INSERT INTO `ChimerPub_dump` VALUES ('6066', 'ARNT_AHR', 't(5;8)(p15;q13) / ', 'ARNT', 'AHR', '22337624', '30', 'leukemia;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', 'Tumor_suppressor', 'Receptor', 'Transcription_Factor', '', '', 'Because the amino terminal part of the transcription factor AHRR, responsible for the recognition of xenobiotic response elements in target genes and for heterodimerization, shows extensive homology with the aryl hydrocarbon receptor (AHR), the fusion is predicted to upregulate the AHR/ARNT signaling pathway. '), ('6067', 'TIF1 _FGFR1', 't(7;8)  / t(7;8)(q34;p11) / ', 'TIF1 ', 'FGFR1', '15609342', '30', '', '', 'Kinase', '', '', '', '', '', '', 'We show that both the TIF1-FGFR1 and FGFR1-TIF1 fusion proteins have the potential to be translated as a result of the translocation. '), ('6068', 'SYT_SSX', '', 'SYT', 'SSX', '15725802', '30', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In this unusual location, the detection of SYT-SSX fusion transcripts is a valuable diagnostic adjunct..     ///    SS is characterized by the chromosomal translocation t(X;18)(SYT-SSX) found in more than 95% of the tumors.     ///    We report a cooperative study from the French Sarcoma Group and the Mesopath Group on 40 t(X;18)(SYT-SSX)-positive primary intrathoracic SS. '), ('6069', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '19463768', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'RUNX1/RUNX1T1 fusion transcripts of MLL gene) and for the Wilms\' tumor (WT1) gene. '), ('6070', 'RARA_PML', '', 'RARA', 'PML', '1325570', '30', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Breakpoints cluster in limited regions of RARA and PML, and PML/RARA and RARA/PML transcripts can also be detected by RT-PCR.     ///    \"Although PML/RARA and RARA/PML fusion products are transcribed in APL, PML/RARA may play an important role in the etiology of APL. \"'), ('6071', 'RUNX1_ETV6', 't(9;22) / ', 'RUNX1', 'ETV6', '26085716', '30', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Some chromosomal abnormalities are associated with more favorable outcomes, such as high hyperdiploidy (51-65 chromosomes) and the ETV6-RUNX1 fusion. '), ('6072', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '19463768', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Frequent MRD monitoring was performed in all AML treatment phases using real-time quantitative polymerase chain reaction for fusion transcripts (CBFB/MYH11. '), ('6073', 'PRP_PACAP', '', 'PRP', 'PACAP', '22227923', '30', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Our results show for first time in fish a differential response of PRP-PACAP transcripts to dietary manipulations, and confirm the sensitivity of the pejerrey GH-IGF system to changes in diet composition despite the lack of (or in advance to) a clear response of somatic growth..     ///    \"Regulation of somatic growth and gene expression of the GH-IGF system and PRP-PACAP by dietary lipid level in early juveniles of a teleost fish, the pejerrey (Odontesthes bonariensis).. \"    ///    \"These results in combination with the lower expression of the anorexigenic PRP-PACAP in fish fed diet L21 and the correlation analysis evidencing a particularly fine tuning of the GH-IGF system in group L13, suggest that this diet may cover the energy demands for growing pejerrey from 27?dah onwards. \"    ///    \"First, the full sequence of pejerrey PRP-PACAP was obtained by RT-PCR, using primers based on conserved fragments of teleosts PACAP sequences. \"    ///    \"Conversely, PRP-PACAP expression significantly decreased with increasing dietary lipids (L10?>?L21). \"'), ('6074', 'PTD_MLL', 't(8;21) / del(9)(q22) / ', 'PTD', 'MLL', '16938118', '30', '', '', '', '', '', '', '', '', '', 'MLL-PTD, KRAS and CEBPA mutations were not found. '), ('6075', 'MYCN_DDX1', '2p24.3 / ', 'MYCN', 'DDX1', '24161495', '30', 'nephroblastoma', '', '', 'Oncogene', '', '', '', '', '', 'Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma..     ///    We supposed that germline DDX1-MYCN duplication could also be involved in the apparition of nephroblastomas.. '), ('6076', 'MPL_JAK2', 'inv(3) / ', 'MPL', 'JAK2', '23349007', '30', 'primary myelofibrosis;pulmonary hypertension', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The presence of fibrosis, JAK2/MPL mutation, or +9/13q- cytogenetic abnormality is supportive but not essential for diagnosis. '), ('6077', 'NOS_CEL', 't(9;22)(q34;11) / ', 'NOS', 'CEL', '24627006', '30', 'chronic myeloid leukemia', '', '', '', '', '', '', '', '', 'The term includes a range of conditions, [ie, BCR-ABL-positive chronic myelogenous leukemia (CML), chronic neutrophilic leukemia (CNL), polycythemia vera (PV), primary myelofibrosis (PMF), essential thromobocythemia (ET), chronic eosinophilic leukemia not otherwise specified (CEL-NOS), mastocytosis, and unclassifiable myeloproliferative neoplasm]. '), ('6078', 'NCOA2_AHHR', 't(5;8)(p15;q13) / ', 'NCOA2', 'AHHR', '22337624', '30', 'leukemia;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'RT-PCR revealed in-frame AHRR/NCOA2 and NCOA2/AHHR transcripts in all four cases.     ///    \"As in the previously described fusion proteins, NCOA2 contributes with its two activation domains to the AHRR/NCOA2 chimera, substituting for the repressor domain of AHRR. \"'), ('6079', 'NTRK3_ETV6', 't(12;15)(p13;q25) / ', 'NTRK3', 'ETV6', '11751416', '30', 'fibrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Therefore, it remains unknown whether ETV6-NTRK3 transformation involves altered NTRK3 signaling.     ///    \"However, previous studies failed to detect interactions between ETV6-NTRK3 and molecules known to link wild-type NTRK3 to its two major effector pathways, namely the Ras-Raf1-Mek1-Erk1/2 mitogenic pathway or the phosphatidylinositol 3\'-kinase pathway leading to activation of the AKT survival factor. \"    ///    \"We now report that ETV6-NTRK3 expression in NIH3T3 cells leads to constitutive activation of Mek1 and Akt, as well as to constitutively high expression of cyclin D1. \"    ///    Our results indicate that ETV6-NTRK3 transformation involves a link between known NTRK3 signaling pathways and aberrant cell cycle progression and that Mek1 and Akt activation act synergistically to mediate these effects..     ///    The chimeric protein tyrosine kinase ETV6-NTRK3 requires both Ras-Erk1/2 and PI3-kinase-Akt signaling for fibroblast transformation.. '), ('6080', 'REN_KCTD11', '17p13.1 / ', 'REN', 'KCTD11', '19617690', '30', '', '', '', '', '', '', '', '', '', 'This segment encompasses 18 genes, including 3 involved in cancer, namely KCTD11/REN, DLG4/PSD95, and GPS2. '), ('6081', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '21676434', '30', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Oncocytic mucoepidermoid carcinoma of the parotid gland with CRTC1-MAML2 fusion transcript: report of a case with review of literature..     ///    Reverse transcriptase polymerase chain reaction and direct sequencing revealed CRTC1-MAML2 translocation of this tumor.     ///    Here we report a case of oncocytic mucoepidermoid carcinoma of parotid gland diagnosed by the detection of CRTC1-MAML2 fusion.     ///    \"To our knowledge, this report describes the first case of oncocytic mucoepidermoid carcinoma confirmed with CRTC1-MAML2 fusion. \"'), ('6082', 'THP_COP', 't(11;14) (q13;q32) / ', 'THP', 'COP', '12096492', '30', 'non Hodgkin lymphoma;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The patient underwent eight courses of THP-COP therapy, and complete remission was achieved.     ///    [Primary subcutaneous mantle cell lymphoma treated successfully with THP-COP therapy].. '), ('6083', 'GFI1B_GFI1', '', 'GFI1B', 'GFI1', '25165253', '30', 'medulloblastoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Comprehensive characterization of these structural variants established that GFI1/GFI1B expression becomes activated through relocation of their coding sequences to genomic regions of transcriptionally active chromatin.     ///    Functional analyses performed in mice confirmed the oncogenicity of Gfi1/Gfi1b in the context of medulloblastoma and demonstrated apparent synergy between both of these candidates and the c-Myc oncogene. '), ('6084', 'RHEBL1_DHH', '', 'RHEBL1', 'DHH', '24127550', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Taken together, these findings are unprecedented and indicate that the DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML.     ///    DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia..     ///    \"Through the screening of a validation cohort of 55 additional pediatric AML patients, we globally detected DHH-RHEBL1 fusion in 8 out of 20 (40%) CBFA2T3-GLIS2-rearranged patients. \"    ///    \"These 8 patients had an 8-year overall survival worse than that of the remaining 12 CBFA2T3-GLIS2-rearranged patients not harboring DHH-RHEBL1 fusion (25% vs 55%, respectively, P=0.1). \"'), ('6085', 'CCND1_SOX11', 't(11;14)(q13;q32) / ', 'CCND1', 'SOX11', '23255553', '30', 'mantle cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The global genomic profile and the high complexity of the 32 cyclin D1(-) SOX11(+) MCL patients analyzed by copy number arrays were similar to the conventional cyclin D1/SOX11 MCL. '), ('6086', 'STAT1_IL2', 'del(5)(q31) / ', 'STAT1', 'IL2', '21425961', '30', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'STAT1 mediates repressive interleukin 2 (IL2)-STAT1 signaling, implicating IL2 pathway avoidance as a possible activation mechanism. '), ('6087', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '7784078', '30', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML/RAR alpha is expressed in APL cells with the non-rearranged alleles, PML and RAR alpha. '), ('6088', 'THP_COP', 't(8;14) (q24;q32) / ', 'THP', 'COP', '9364867', '30', 'cardiac tumor;non Hodgkin Lymphoma', '', '', '', '', '', '', '', '', 'Chemotherapy with pirarubicin, cyclophosphamide, vincristin, and prednisolone (THP-COP) was not effective for his lymphoma. '), ('6089', 'MUM1_IRF4', 't(8;22)  / t(8;14)  / ', 'MUM1', 'IRF4', '20118770', '30', 'leukemia;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Distinguishing features from BL included expression of Bcl2 (P<0.0001), Mum1/IRF4 (P=0.006), Ki-67 <95% (P<0.0001), and absence of EBV-EBER (P=0.006). '), ('6090', 'EML4_ALK', 't(2;5)  / ', 'EML4', 'ALK', '19459784', '30', 'neuroblastoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent reports of the EML4 (echinoderm microtubule-associated protein like 4)-ALK oncoprotein in NSCLC (non-small cell lung cancer), together with the identification of activating point mutations in neuroblastoma, have highlighted ALK as a significant player and target for drug development in cancer. '), ('6091', 'JAK2_BCR', 't(8;9)(p22;p24) / t(9;12)(p24;p13) / t(9;22) / p24;q11??2 / ', 'JAK2', 'BCR', '24913195', '30', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BCR-JAK2 should be documented carefully in order to define their features more clearly and assess whether they can be recognized as entities. '), ('6092', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '15982341', '30', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'A common profile for children with ALL with an ETV6-RUNX1 fusion, amplification or deletion of ETV6, amplification of RUNX1 or hyperdiploidy with an additional chromosome 21 was identified. '), ('6093', 'VCFS_DGS', '', 'VCFS', 'DGS', '10369860', '30', 'DiGeorge syndrome\r\r', '', '', '', '', '', '', '', '', 'In order to determine whether there are particular regions on 22q11 that are prone to rearrangements, the deletion end-points in a large number of VCFS/DGS patients were defined by haplotype analysis.     ///    VCFS/DGS is the most common syndrome associated with 22q11 rearrangements.     ///    \"To support this idea further, we identified a family that carries an interstitial duplication of the same 3 Mb region that is deleted in VCFS/DGS patients. \"    ///    \"Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11. \"    ///    \"Most VCFS/DGS patients have a similar 3 Mb deletion, some have a nested distal deletion breakpoint resulting in a 1.5 Mb deletion and a few rare patients have unique deletions or translocations. \"    ///    \"To investigate this hypothesis, we developed hamster-human somatic hybrid cell lines from VCFS/DGS patients with all three classes of deletions and we now show that the breakpoints occur within similar low copy repeats, termed LCR22s. \"'), ('6094', 'SLL_CCL', 't(9;14)(p13;q32) / ', 'SLL', 'CCL', '9570687', '30', 'non Hodgkin Lymphoma', '', '', '', '', '', '', '', '', ' Low grade B-cell non-Hodgkin\'s lymphomas (B-NHL) represent a markedly heterogeneous group of lymphoproliferative disorders, including B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CCL/SLL), lymphoplasmacytoid lymphoma (LPL), follicular lymphoma (FL), mucosa-associated lymphoid tissue lymphoma (MALTL), and splenic lymphoma with villous lymphocytes (SLVL). '), ('6095', 'BCR_ABL1', '', 'BCR', 'ABL1', '26243622', '30', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The aim of the present study was to evaluate the clinical performances of a novel assay for the quantification of BCR-ABL1 fusion transcripts (e13a2 and e14a2) and ABL1 in a single reaction.     ///    \" Although monitoring of BCR-ABL1 translocation has become an established practice in the management of chronic myeloid leukemia (CML), the detection limit of the BCR-ABL1 transcripts needs more standardization. \"    ///    Evaluation of a novel multiplex RT-qPCR assay for the quantification of leukemia-associated BCR-ABL1 translocation..     ///    \"In a retrospective comparative clinical study performed in a reference laboratory, RNA was extracted from 48 CML patient blood samples with various BCR-ABL1/ABL1 ratios and RT-qPCR was performed using either MAScIR assay or the RT-qPCR simplex reference assay used in routine clinical testing. \"    ///    \"The present study illustrates the utility of MAScIR assay as a sensitive, rapid, and cost-effective quantitative device to monitor the BCR-ABL1 ratios by RT-qPCR on whole blood of diagnosed Philadelphia chromosome-positive (Ph+) leukemia patients. \"'), ('6096', 'PRKCA_DNAJB1', '', 'PRKCA', 'DNAJB1', '25122662', '30', 'hepatocellular carcinoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'The first, a 400 kb deletion, results in a DNAJB1-PRKCA fusion transcript, which leads to increased cAMP-dependent protein kinase (PKA) activity in the index tumor case and other FL-HCC cases compared with normal liver. '), ('6097', 'CCND1_MCL', 't(11;14)(q13;q32) / ', 'CCND1', 'MCL', '23255553', '30', 'mantle cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This comprehensive characterization of a large series of cyclin D1(-) MCL patients indicates that these tumors are clinically and biologically similar to the conventional cyclin D1(+) MCL and provides a basis for the proper identification and clinical management of these patients.. '), ('6098', 'GTL2_DLK1', 'chr14:100 / ', 'GTL2', 'DLK1', '24800088', '30', 'precocious puberty', '', '', '', '', '', '', '', '', 'The deleted region encompasses the DLK1/GTL2 imprinted gene cluster which is consistent with the maternal UPD(14)-like phenotype of the patient. '), ('6099', 'RET_PTC', '', 'RET', 'PTC', '21286310', '30', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Studies have revealed that DNA breakage at fragile sites can induce formation of RET/PTC rearrangements, and deletions within the FHIT gene, resembling those observed in human tumors. '), ('6100', 'MLT_API2', 't(9;14) (p13;q32) / ', 'MLT', 'API2', '10681729', '30', 'MALT lymphoma;non Hodgkin Lymphoma', '', '', '', '', '', '', '', '', 'MALT-lymphoma frequently associates with alterations of API2/MLT and, in some cases, of p53, BCL-6 and BCL-10. '), ('6101', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '24805859', '30', 'ewing sarcoma;sarcoma\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', ' BCOR-CCNB3 fusion transcripts resulting from an X-chromosomal paracentric inversion were recently identified in a series of unclassifiable soft tissue and bone sarcomas with Ewing sarcoma-like morphology.     ///    \"Reverse transcription polymerase chain reaction for BCOR-CCNB3 fusion transcripts was positive in all 9 cases, which yielded sufficient extracted RNA. \"    ///    \"In conclusion, this study provides a detailed description of the histologic spectrum, immunohistochemical features, and clinical characteristic of BCOR-CCNB3 sarcoma justifying distinction from Ewing sarcoma with its typical EWS/FUS-ETS translocations. \"    ///    BCOR-CCNB3 sarcomas located in axial skeleton and soft tissues showed a significantly shorter survival.     ///    \"BCOR-CCNB3 (Ewing-like) sarcoma: a clinicopathologic analysis of 10 cases, in comparison with conventional Ewing sarcoma.. \"    ///    \"The Ewing sarcoma overall survival was not statistically different, although there was a trend for longer survival of patients with BCOR-CCNB3 sarcomas in the extremities. \"    ///    Here we describe the clinicopathologic features of 10 cases of BCOR-CCNB3 sarcoma and compare their clinical course with typical Ewing sarcoma. '), ('6102', 'LIN28B_HMGA2', 't(8;21) / inv(16)  / t(8;21)  / ', 'LIN28B', 'HMGA2', '24270738', '30', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We showed that miR-9 exerts its effects through the cooperation with let-7 to repress the oncogenic LIN28B/HMGA2 axis. '), ('6103', 'FMR2_AF4', 't(4;11)(q21;q23) / ', 'FMR2', 'AF4', '12399976', '30', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The AF5q31 protein is a member of the AF4/LAF4/FMR2-related family of proteins, which have been suggested to play a role in hematopoietic cell growth and differentiation. '), ('6104', 'BCR_ABL1', '', 'BCR', 'ABL1', '2227945', '30', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Ph-negative CML comprises (1) cases of submicroscopic (hidden) insertion of 9q34-ABL within 22q11-BCR, and (2) cases without BCR-ABL rearrangement. '), ('6105', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '25591392', '30', 'cardiac failure;dilated cardiomyopathy', '', '', '', '', '', '', '', 'Seq', 'As a result Ewsr1-Fli1 fusion transcripts were expressed, suggesting a functional Ews-Fli1 protein might be synthesized in vivo. '), ('6106', 'MLL_AF4', 't(4;11)  / t(4;11)(q21;q23) / ', 'MLL', 'AF4', '10773450', '29', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We postulate that both the nonsense-mediated decay eliminating correctly spliced MLL-exon 8/AF4 mRNAs and activation of suboptimal splicing sites contribute to the diversity of MLL/AF4 RNA species.. '), ('6107', 'PHF1_JAZF1', 't(1;6)(p34;p21) / ', 'PHF1', 'JAZF1', '22761769', '29', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'So far, PHF1 was found to be the 3\' partner in the JAZF1-PHF1 and EPC1-PHF1 chimeras but since the 6p21 rearrangements involve also other chromosomal translocation partners, other PHF1-fusions seem likely. '), ('6108', 'PHF1_EPC1', 't(1;6)(p34;p21) / ', 'PHF1', 'EPC1', '22761769', '29', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'So far, PHF1 was found to be the 3\' partner in the JAZF1-PHF1 and EPC1-PHF1 chimeras but since the 6p21 rearrangements involve also other chromosomal translocation partners, other PHF1-fusions seem likely. '), ('6109', 'JJAZ1_JAZF1', 't(7;17)(p15;q21) / ', 'JJAZ1', 'JAZF1', '11371647', '29', 'endometrial stromal tumor', '', '', '', '', '', '', '', '', 'Analyses of tumor RNA indicate that a JAZF1/JJAZ1 fusion is present in all types of endometrial stromal tumors. '), ('6110', 'NUP98_DDX10', 'inv(11)(p15q22) / inv(11)  / t(7;11)(p15;p15) / ', 'NUP98', 'DDX10', '9166830', '29', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The predicted NUP98-DDX10 fusion protein may promote leukemogenesis through aberrant nucleoplasmic transport of mRNA or alterations in ribosome assembly..     ///    \"Although two reciprocal chimeric products, NUP98-DDX10 and DDX10-NUP98, were predicted, only NUP98-DDX10 appears to be implicated in tumorigenesis. \"'), ('6111', 'JAK2_ETV6', '', 'JAK2', 'ETV6', '18476590', '29', 'myelodysplastic syndrome\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'ETV6 rearrangement were found in 4 (6.9%) of 58 cases, among which ETV6/JAK2 fusion was identified by RT-PCR in 1 (1.7%) case. '), ('6112', 'SLC45A3_ELK4', '', 'SLC45A3', 'ELK4', '20693979', '29', 'prostate cancer\r\r', 'RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'The SLC45A3-ELK4 transcript, a fusion transcript without structural gene rearrangement, was detectable in five cases (5/194, 3%). '), ('6113', 'RET_ELE1', '', 'RET', 'ELE1', '8806699', '29', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' A post-Chernobyl papillary thyroid cancer, displaying a novel ELE1/RET oncogenic rearrangement with an anomalous fusion transcript, was molecularly characterized.     ///    \"To characterize the product of this new oncogenic ELE1/RET rearrangement, here designated as RET/PTC4, we performed an immunoprecipitation and Western blot analysis on cell extracts from NIH3T3 transfectants. \"    ///    \"These events predominantly involve ELE1 activating sequence, thus producing RET/PTC3 oncogene (Fugazzola et al., 1995. \"    ///    \"As expected, the molecular weight of this protein was higher than that of RET/ PTC3 protein (p80 and p85, instead of p76 and p81). \"'), ('6114', 'FUS_CHOP', '', 'FUS', 'CHOP', '10982695', '29', 'herpes simplex', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The detection of fusion genes induced by tumor-specific translocations, such as EWS-FLI1 in Ewing\'s sarcoma, SYT-SSX in synovial sarcoma, and CHOP-FUS in myxoid liposarcoma, is becoming significant for clinical diagnosis, because these sarcomas are often indistinguishable from other bone and soft-tissue tumors. '), ('6115', 'SSX_SS18', '', 'SSX', 'SS18', '25613038', '29', 'synovial sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'SS18-SSX fusion transcript presence was confirmed by FISH and RT-PCR. '), ('6116', 'SYT_SSX1', '', 'SYT', 'SSX1', '14704716', '29', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'For five cases, the presence of either an SYT-SSX1 (three cases) or SYT-SSX2 (two cases) gene fusion was known. '), ('6117', 'RARA_PL', 't(15;17)(q22;q11-12) / t(15;17) / ', 'RARA', 'PL', '9164186', '29', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' To examine, in newly diagnosed patients with acute promyelocytic leukemia (APL), the prognostic significance of secondary cytogenetic changes and the relationship between such changes and the two major promyelocytic leukemia-retinoic acid receptor alpha (PML-RAR alpha) mRNA types. '), ('6118', 'MLL_AFF1', 't(4;11)(q21;q23) / t(4;11) / ', 'MLL', 'AFF1', '22993334', '29', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Among them, the MLL/AFF1 (AF4/FMR2 family, member 1) fusion, associated with rearrangements between bands 4q21 and 11q23 is a recurrent event in pre-B acute lymphoblastic leukemia (ALL).     ///    \"The comparison of MLL-AFF1 cases with the ABL1 group identified 477 genes being differentially expressed at the statistically significant level of p<0.05, with 296 and 181 genes up- and down-regulated, respectively, in the MLL-AFF1 cases. \"'), ('6119', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19728396', '29', 'hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A small subgroup of patients with hypereosinophilic syndrome (HES) demonstrates imatinib-sensitive fusion transcript-the FIP1L1-PDGFRA (F/P+).     ///    Clinical characteristics of patients with chronic eosinophilic leukaemia (CEL) harbouring FIP1L1-PDGFRA fusion transcript--results of Polish multicentre study..     ///    \"In this paper, we screened 77 patients to estimate the frequency of FIP1L1-PDGFRA transcript among patients with unexplained, long-term hypereosinophilia exceeding 1.5 x 10(9)/L and to analyse the clinical and serological features in F/P+ CEL population. \"    ///    The FIP1L1-PDGFRA chimeric protein was detectable in 16 (14 males and 2 females) out of 77 examined HES patients (20%) by RT-PCR. '), ('6120', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23781502', '29', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'Molecular characterization and clinical impact of TMPRSS2-ERG rearrangement on prostate cancer: comparison between FISH and RT-PCR..     ///    The presence of TMPRSS2-ERG rearrangement was observed in 56.6% of cases.     ///    No association between TMPRSS2-ERG status and clinicopathological parameters nor biochemical progression and clinical progression free survival was found. '), ('6121', 'EML4_ALK', '', 'EML4', 'ALK', '23741400', '29', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The aim of this study was to compare the diagnostic accuracy of FISH, immunohistochemistry (IHC), and real-time quantitative RT-PCR (QPCR) methodologies for detection of EML4-ALK rearrangement in NSCLC and to appraise immunohistochemistry as a pre-screening tool.     ///    \"However, assessing EML4-ALK rearrangement in NSCLC remains challenging in routine pathology practice. \"'), ('6122', 'NRF2_KEAP1', '', 'NRF2', 'KEAP1', '15706085', '29', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The Nrf2-Keap1 system is present not only in mammals, but in fish, suggesting that its roles in cellular defense are conserved throughout evolution among vertebrates.     ///    \"Signals from reactive oxygen species or electrophilic insults target the Nrf2-Keap1 complex, dissociating Nrf2 from Keap1. \"    ///    Molecular mechanisms activating the Nrf2-Keap1 pathway of antioxidant gene regulation..     ///    \"This review article recounts recent knowledge of the Nrf2-Keap1 system, focusing especially on the molecular mechanism of Nrf2 regulation.. \"'), ('6123', 'SYT_SSX', '', 'SYT', 'SSX', '10982695', '29', 'herpes simplex', '', '', '', '', '', '', '', '', 'The detection of fusion genes induced by tumor-specific translocations, such as EWS-FLI1 in Ewing\'s sarcoma, SYT-SSX in synovial sarcoma, and CHOP-FUS in myxoid liposarcoma, is becoming significant for clinical diagnosis, because these sarcomas are often indistinguishable from other bone and soft-tissue tumors. '), ('6124', 'TLX3_NKX2-5', 't(5;14)(q35;q32) / t(5;14) / t(5;14)  / ', 'TLX3', 'NKX2-5', '17308084', '29', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Intriguingly, although TLX3/NKX2-5 promoter/exon 1 regions were hypoacetylated, their expression was trichostatin A sensitive, implying extrinsic regulation by factor(s) under acetylation control.     ///    \"Knockdown of PU.1, known to be trichostatin A responsive and which potentially binds TLX3/NKX2-5 promoters, effected down-regulation of both homeobox genes. \"'), ('6125', 'LRRTM3_CTNNA3', '', 'LRRTM3', 'CTNNA3', '24587117', '29', '', '', '', '', '', '', '', '', '', 'However, we detected three prominent exceptions: (1) the lrrtm3/ctnna3 gene structure is absent in the ray-finned fish genomes, (2) the genomes of clawed frogs contain ctnna1 but lack the corresponding nested (lrrtm2) gene, and (3) contain lrrtm3 gene in the syntenic position but lack the corresponding host (ctnna3) gene. '), ('6126', 'RET_CCDC6', 'inv(10) / ', 'RET', 'CCDC6', '1542652', '29', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Therefore, a chromosome 10q inversion provides the structural basis for the D10S170-RET fusion that forms the hybrid transforming sequence RET/PTC.. '), ('6127', 'CALM_AF10', 't(10;11)(p13;q14-21) / ', 'CALM', 'AF10', '16107895', '29', 'acute myeloid leukemia;T ALL;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We propose to define a HOXA+ leukemia group composed of at least MLL-t, CALM-AF10 and HOXA-t AL, which may benefit from adapted management..     ///    \"In addition, BMI1, located close to AF10 breakpoint, was overexpressed only in CALM-AF10+ T-ALL and not in MLL-t AL. \"'), ('6128', 'FUS_CHOP', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'FUS', 'CHOP', '20093386', '29', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In all patients, tumor sites showed identical FUS-CHOP fusion products.     ///    \"Using RT-PCR, the detailed molecular characteristics of the FUS-CHOP and EWS-CHOP breakpoints were determined. \"'), ('6129', 'MYC_IGH', 't(8;14)  / t(8;14) / ', 'MYC', 'IGH', '7691153', '29', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The almost constant position of the chromosome 8 breakpoint (within or immediately 5\' of the MYC gene) together with two distinct clusters of breakpoints on chromosome 14 resulted in two main types of MYC/IGH (present in 12 of 15 cases). '), ('6130', 'DLX6_DLX5', 'inv(7) / ', 'DLX6', 'DLX5', '26839112', '29', '', '', '', '', '', '', '', '', '', ' Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. '), ('6131', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '10641597', '29', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'About 40 to 50% of cases diagnosed as ALCL contain a specific chromosomal rearrangement, t(2;5)(p23;q35), resulting in expression of the chimeric tyrosine kinase NPM-ALK.     ///    \"We conclude that NPM-ALK is not stimulated by CD30 activation, but exists as a constitutively hyperactivated protein. \"    ///    We demonstrate that NPM-ALK specifically binds to the intracellular domain of the cytokine receptor CD30.     ///    \"The tyrosine kinase NPM-ALK, associated with anaplastic large cell lymphoma, binds the intracellular domain of the surface receptor CD30 but is not activated by CD30 stimulation.. \"    ///    Western blot analysis of coimmunoprecipitated CD30 and NPM-ALK proteins from stimulated Karpas 299 cells showed that the interaction of the proteins is not modified by stimulation.     ///    \"To better elucidate the function of NPM-ALK, we investigated a possible mechanism for regulation of its activity. \"    ///    In vitro binding assays revealed that the ALK portion of NPM-ALK mediates interaction of the two proteins.     ///    \"Activation of CD30 neither enhanced NPM-ALK activity measured by autophosphorylation of the chimeric tyrosine kinase nor phosphorylation of phospholipase C-gamma, an NPM-ALK substrate. \"    ///    Interaction with CD30 may extend the subcellular localization of NPM-ALK to the microenvironment of membrane-associated proteins.. '), ('6132', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '23970379', '29', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Furthermore, we show that autophagy does not mediate degradation of AML1-ETO but rather has a prosurvival role in AML cells, as inhibition of autophagy significantly reduced the viability and colony-forming ability of HDACi-treated AML cells. '), ('6133', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '8609723', '29', 'granulocytic sarcoma', 'RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The cells had high protein kinase (p210BCR-ABL) activity and carried two identified variants of an ABL-BCR message.     ///    \"We conclude that the KBM-7 cell line will be of value for investigating molecular events underlying neoplastic transformation in CML, in particular for studying the effects of BCR-ABL and ABL-BCR on the proliferation of CML cells in the absence of normal BCR and c-ABL messages.. \"'), ('6134', 'ETO_AML1', '', 'ETO', 'AML1', '21867644', '29', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Additional genetic events are verified to cooperate with fusion genes resulting from chromosomal translocations in acute myeloid leukemia (AML) to develop a leukemic phenotype in mice, such as C-KIT N822K with AML1-ETO, FLT3-ITD with PML-RAR?, Meis1 with NUP98-HOX, and Cdx4 with MLL-AF9. '), ('6135', 'NPM_ALK', 't(2;5) (p23;q35) / t(2;5)(p23;q35) / t(2;5) / ', 'NPM', 'ALK', '8781434', '28', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Further studies are needed to determine the prognostic significance of the NPM-ALK rearrangement, to determine whether its detection can aid in the differential diagnosis between ALCL. '), ('6136', 'MLL_AF6', '', 'MLL', 'AF6', '8630416', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'FISH analysis of nine cases with an MLL-specific yeast artificial chromosome (YAC) confirmed the cytogenetic abnormalities in two cases, clarified them in one, and did not detect six cases, including three MLL self-fusions, one case with a probable MLL-rearranged subclone not represented karyotypically, and twoMLL-AF6. '), ('6137', 'TLS_CHOP', 't(12;16)(q13;p11) / ', 'TLS', 'CHOP', '8510758', '28', 'liposarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In TLS-CHOP the RNA-binding domain of TLS is replaced by the DNA-binding and leucine zipper dimerization domain of CHOP. '), ('6138', 'FLI_EWS', 't(11;22)(q24;q12) / t(11;22)  / ', 'FLI', 'EWS', '9025840', '28', 'neuroectodermal tumor', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'EWS/FLI-1 fusion transcript detection and MIC2 immunohistochemical staining in the diagnosis of Ewing\'s sarcoma..     ///    We have assessed the RT-PCR method of detection by examining 40 cases of ES for the presence of EWS/FLI-1 transcripts.     ///    \"The MIC2 cell surface antigen, which is reported to be present in over 95% of ES/pPNETs, was present in 32 of 33 tumors (97%), including all 24 EWS/FLI-1 transcript-positive cases examined. \"'), ('6139', 'TEL_AML1', 't(8;21)  / t(8;21) / inv(16)  / inv(16) / t(3;21)  / t(12;21)  / ', 'TEL', 'AML1', '9234595', '28', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', 'Other relevant characteristics of TEL/AML1-positive ALL are frequent deletion of the other TEL allele and association with an excellent prognostic outcome.     ///    \"This alteration, which results in the production of a TEL/AML1 chimeric protein, is restricted to pediatric B-lineage acute lymphoid leukemia (ALL), where it represents the most frequent molecular defect known to date (up to 25% of cases). \"'), ('6140', 'TFE3_ASPL', 'p11;q25 / ', 'TFE3', 'ASPL', '12769020', '28', 'alveolar soft part sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'We report yet another case with reciprocal translocation between chromosomes 17q25 and Xp11 with TFE3/ASPL fusion product who presented with metastatic disease. '), ('6141', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '1453773', '28', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Northern-blot analyses show that the chimeric fusion transcript PML-RAR alpha and the normal allelic PML and RAR alpha transcripts are similarly expressed in both cell lines. '), ('6142', 'SYT_SSX4', 'p11.2;q11.2 / ', 'SYT', 'SSX4', '12065783', '28', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A novel fusion transcript variant deriving from the fusion of SYT to exon 6 of SSX4 gene (SYT/SSX4v) was found coexpressed in one of the previously reported SYT/SSX4 cases. '), ('6143', 'RARA_PML', 't(8;21)  / ', 'RARA', 'PML', '7858239', '28', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We analyzed seven patients with acute promyelocytic leukemia (APL) in hematological remission for PML-retinoic acid receptor alpha (PML-RAR alpha) fusion transcripts by RT-PCR with the sensitivity level of one APL cell in 10(5) bone marrow mononuclear cells. '), ('6144', 'RARA_NPM', 't(5;17)  / t(5;17)(q32;q12) / t(2;5)  / t(15;17)  / t(11;17)  / ', 'RARA', 'NPM', '8562957', '28', 'acute promyelocytic leukemia;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Both NPM-RAR proteins are expressed in the patient\'s leukemic cells, along with wild-type RARA derived from the uninvolved allele. '), ('6145', 'NTRK3_ETV6', 't(2;15) / 2p21;15 / ', 'NTRK3', 'ETV6', '27148571', '28', 'hemimelia', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Molecular characterization of the tumor revealed the absence of the prototypical ETV6-NTRK3 translocation. '), ('6146', 'ETO_AML1', 't(8;21)(q22;q22) / t(8;21)  / t(8;21) / ', 'ETO', 'AML1', '24727677', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Silencing AML1-ETO gene expression leads to simultaneous activation of both pro-apoptotic and proliferation signaling..     ///    It results in a transcript encoding for the fusion protein AML1-ETO (AE) with transcription factor activity. '), ('6147', 'RARA_PML', 't(15;17)(q22;q21) / ', 'RARA', 'PML', '21927800', '28', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Fluorescence in situ hybridization with a PML/RARA dual-color DNA probe showed a single fusion signal, and RT-PCR analysis showed PML/RARA fusion transcripts. '), ('6148', 'TLX3_RANBP17', 't(5;14)(q35;q32) / t(5;7)(q35;q21) / ', 'TLX3', 'RANBP17', '15334547', '28', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'In two additional instances, fusion of the BCL11B (also known as CTIP2) and RANBP17/TLX3 loci were shown to result from subtle genomic insertion/deletion within these loci. '), ('6149', 'RUNX1_ETV6', 'inv(16) / t(4;11)  / t(11;19) / ', 'RUNX1', 'ETV6', '23091311', '28', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6.     ///    \"Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. \"'), ('6150', 'NPM_ALK', 'p23;q21 / ', 'NPM', 'ALK', '10362790', '28', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The (2;5) translocation, found in many T-cell and null cell anaplastic large cell lymphomas (ALCLs), creates a hybrid gene encoding the 80-kd NPM-ALK protein.     ///    These results show how ALCL cases that express ALK proteins other than NPM-ALK can be detected by sensitive biochemical techniques using routine cryostat sections.. '), ('6151', 'RARA_PML', 'inv(16) / t(4;11)  / t(11;19) / ', 'RARA', 'PML', '23091311', '28', '', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6.     ///    \"Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. \"'), ('6152', 'TEL_AML1', 't(1;19)  / ', 'TEL', 'AML1', '12970785', '28', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'MI was correlated with standard prognostic factors, including immunophenotype, age, sex, WBC and presence of specific translocations (TEL-AML1, BCR-ABL, E2A-PBX1 or MLL-AF4). '), ('6153', 'ZBTB16_RARA', 'inv(16) / t(4;11)  / t(11;19) / ', 'ZBTB16', 'RARA', '23091311', '28', '', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6154', 'RARA_NPM', 't(5;17)(q35;q21) / t(5;17)  / ', 'RARA', 'NPM', '23927396', '28', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'We have previously shown that leukemic cells express both NPM-RAR and RAR- NPM reciprocal translocation products.     ///    Expression of NPM-RAR inhibited vitamin D3/transforming growth factor ? (TGF?)-mediated differentiation of U937 cells by more than 50%. '), ('6155', 'BCR_ABL1', 't(15;21) / t(9;22) / t(15;21)  / ', 'BCR', 'ABL1', '24123676', '28', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our data suggest that RUNX1 haploinsufficiency collaborates with the BCR-ABL1 oncogene in this leukemia. '), ('6156', 'P12_P11', 't(8;13)(p12;q12) / t(8;13)  / ', 'P12', 'P11', '12694254', '28', 'myeloproliferative disorder\r\r', '', '', '', '', '', '', '', '', ' A rare atypical myeloproliferative disorder (aMPD) associated with chromosomal translocations involving the short arm of chromosome 8, region p11-p12 has been described. '), ('6157', 'TAL1_SIL', '', 'TAL1', 'SIL', '9432040', '28', 'T ALL\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Since tal(d) lead to expression of a SIL-TAL1 fusion transcript, irrespective of the genomic breakpoint, we have used a single monoplex RT-PCR reaction to screen 55 T-ALL patients at diagnosis.     ///    \"SIL-TAL1 RT-PCR screening should therefore increase the detection rate of tal(d) by approximately 15-20%, with an at least comparable sensitivity to tal(d) genomic PCR, and represents a more practical and economic alternative to multiple DNA PCRs or Southern blotting when incorporated into molecular screening for multiple transcripts at diagnosis.. \"    ///    \"SIL-TAL1 transcripts were demonstrated in 12 (22%) cases, including 7/27 (26%) children <15 years of age, 2/8 (25%) adolescents and 2/17 (12%) adults aged >20 years. \"    ///    Simultaneous SIL-TAL1 RT-PCR detection of all tal(d) deletions and identification of novel tal(d) variants..     ///    \"SIL-TAL1 RT-PCR was preferrable to tal(d) DNA PCR since it allowed the simultaneous detection of tal(d), tal(d2) and two previously undescribed tal(d) variants. \"'), ('6158', 'ETO_AML1', 't(8;21) / t(8;21)  / ', 'ETO', 'AML1', '15476184', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'and the AML1/ETO fusion transcript in 23 cases examined by reverse transcription-polymerase chain reaction (RT-PCR) assay, including 6 cases with normal karyotype. '), ('6159', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '22337712', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' AML1-ETO (AE) is a fusion product of translocation (8;21) that accounts for 40% of M2 type acute myeloid leukemia (AML).     ///    The thrombopoietin/MPL/Bcl-xL pathway is essential for survival and self-renewal in human preleukemia induced by AML1-ETO.. '), ('6160', 'RARA_PML', 't(15;17)  / t(5;17)  / t(11;17)  / ', 'RARA', 'PML', '9103677', '28', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', '17) leading to the formation of PML-RAR alpha, RAR alpha-PML and aberrant PML fusion products. '), ('6161', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '22562027', '28', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The PML-RARA translocation alone may not be sufficient to induce leukemia.     ///    \"Therefore, we assume that FLT3 mutations and the other genetic and chromosomal alterations may cooperate with PML-RARA in the development of APL disease.. \"'), ('6162', 'LMO1_LDB1', 't(11;14)(p15;q11) / t(11;14) / t(11;14)(p13;q11) / ', 'LMO1', 'LDB1', '9872335', '28', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Therefore, the LMO1-LDB1 interaction is likely to be involved in tumorigenesis after LMO1 is ectopically expressed following chromosomal translocation in T cells prior to development of acute leukaemias.. '), ('6163', 'MYH11_CBFB', 'inv(16) / t(4;11)  / t(11;19) / ', 'MYH11', 'CBFB', '23091311', '28', '', 'PCR', '', '', '', '', '', '', '', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6164', 'BCL2_IGH', 't(14;18) / t(14;18)  / ', 'BCL2', 'IGH', '15875184', '28', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular epidemiology of follicular lymphoma in Chinese: relationship with bcl-2/IgH translocation and bcl-6 397G/C polymorphism.. '), ('6165', 'ENC1_ENC1', 'inv(5) / ', 'ENC1', 'ENC1', '15459180', '28', 'Sandhoff disease', '', '', '', '', '', '', '', 'Seq', 'Upon further analysis of the ENC-1/ENC-1AS locus, we identified a complex 5\' regulatory mechanism involving an inverse expression of the ENC-1 sense and the ENC-1AS transcripts in several tissues supporting the hypothesis that expression of ENC-1AS regulates ENC-1 levels.     ///    \"In addition, we have also found tissue-specific methylation of a 1.2 kb segment encompassing the overlapping ENC-1/ENC-1AS 5\' exons, adding to the complexity of the regulation of this locus. \"'), ('6166', 'IG_BCL2', 't(14;18) / t(2;18) / p11;q21.3 / t(18;22) / t(14;18)  / t(8;14)(q24;q32) / t(2;8)(p11;q24) / t(8;22)(q24;q11) / ', 'IG', 'BCL2', '21628855', '28', 'leukemia;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The pathological diagnosis in most cases of DHL with BCL2-IG and MYC-IG translocation is B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL, although DLBCL is most common in DHL with BCL2-IG and MYC-nonIG translocation. '), ('6167', 'NTRK3_ETV6', 't(12;15)(q13;q25) / ', 'NTRK3', 'ETV6', '26945684', '28', 'AIDS\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Also, characteristic ETV6-NTRK3 translocation was confirmed in case 1. '), ('6168', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '20439113', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'For example, the GM-CSF gene is activated by RUNX1, but is repressed by RUNX1-ETO.     ///    \"In contrast, RUNX1-ETO, which cannot associate with CBP, is unable to transactivate the GM-CSF promoter and is associated with the generation of a repressive chromatin environment at the promoter.. \"    ///    The resulting RUNX1-ETO fusion protein contributes to leukemic progression by directing aberrant association of transcriptional cofactors and epigenetic modifiers to RUNX1 target genes. '), ('6169', 'MLLT1_MLL', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLLT1', 'MLL', '23091311', '28', '', 'PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6170', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '19075651', '28', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This translocation creates two new genes, BCR-ABL on the 22q- (Ph chromosome) and the reciprocal ABL-BCR on 9q-. '), ('6171', 'BIRC3_MALT1', 't(11;18)(q21;q21) / ', 'BIRC3', 'MALT1', '16395399', '28', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'add to our understanding of the molecular consequences of this translocation, showing that its fusion product, cIAP2-MALT1, may concomitantly contribute to lymphomagenesis both as a tumor suppressor gene and as an oncogene.. '), ('6172', 'PDE8A_AKAP13', '', 'PDE8A', 'AKAP13', '24151535', '28', 'colorectal cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Whole-genome sequencing identified a specific genomic breakpoint in COMMD10-AP3S1 and further indicates that both the COMMD10-AP3S1 and AKAP13-PDE8A fusion transcripts are due to genomic duplications in specific cell lines.     ///    \"Six were intrachromosomal fusion transcripts, and interestingly, three of these, AKAP13-PDE8A, COMMD10-AP3S1, and CTB-35F21.1-PSD2, were present in, respectively, 18, 18, and 20 of 21 analyzed cell lines and in, respectively, 18, 61, and 48 (17%-58%) of 106 primary cancer tissues. \"    ///    \"In conclusion, we have identified AKAP13-PDE8A, COMMD10-AP3S1, and CTB-35F21.1-PSD2 as novel intrachromosomal fusion transcripts and the most highly recurring chimeric transcripts described for CRC to date. \"'), ('6173', 'P300_TEL', 't(12;21)(p12;q22) / ', 'P300', 'TEL', '15179033', '28', '', '', '', '', '', '', '', '', '', 'These results suggest that the p300-TEL/RUNX1 complex and heterodimerization of TEL/RUNX1 with TEL may be responsible for the ability of TEL/RUNX1 to inhibit RUNX1-mediated transactivation. '), ('6174', 'FLI_EWS', 't(11;22) / ', 'FLI', 'EWS', '20543858', '28', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'For example, nearly all cases of Ewing\'s sarcoma contain the (11;22)(q24;q12) chromosomal translocation that encodes the EWS/FLI oncoprotein.     ///    These two features suggest that EWS/FLI is the primary mutation that drives the development of this tumor. '), ('6175', 'EML4_ALK', '', 'EML4', 'ALK', '22791881', '28', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, six novel ALK fusion variants were identified, including one KIF5B-ALK (E17;A20) and five EML4-ALK variants (E6a;A19, E6a/b ins 18;A20, E17b ins 39;A20, E10a/b, E13;A20, and E17 ins 65;A20). '), ('6176', 'MLL_ELL', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLL', 'ELL', '23091311', '28', '', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6177', 'MLLT3_MLL', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLLT3', 'MLL', '23091311', '28', '', 'PCR', '', 'Oncogene', '', '', '', '', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6.     ///    \"Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. \"'), ('6178', 'MYC_IG', 't(14;18) / t(2;18) / p11;q21.3 / t(18;22) / t(14;18)  / t(8;14)(q24;q32) / t(2;8)(p11;q24) / t(8;22)(q24;q11) / ', 'MYC', 'IG', '21628855', '28', 'leukemia;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The pathological diagnosis in most cases of DHL with BCL2-IG and MYC-IG translocation is B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL, although DLBCL is most common in DHL with BCL2-IG and MYC-nonIG translocation. '), ('6179', 'PAX3_FKHR', '11p15.5 / ', 'PAX3', 'FKHR', '12170781', '28', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FKHR and PAX7-FKHR fusion products, respectively. '), ('6180', 'PAX7_FKHR', '11p15.5 / ', 'PAX7', 'FKHR', '12170781', '28', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FKHR and PAX7-FKHR fusion products, respectively. '), ('6181', 'AE3_AE1', 't(11;22)(q24;q12) / ', 'AE3', 'AE1', '10716155', '28', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'To establish further the prevalence of cytokeratin immunoreactivity in a series of well-characterized ES/PNET, we then performed immunohistochemical studies with antibodies CAM5.2 and AE1/AE3 on 50 cases of ES/PNET diagnosed at Memorial Sloan-Kettering Cancer Center in which molecular evidence of a specific ES/PNET-associated translocation were available. '), ('6182', 'RUNX1T1_RUNX1', 'inv(16) / t(4;11)  / t(11;19) / ', 'RUNX1T1', 'RUNX1', '23091311', '28', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6183', 'PPARG_PAX8', 't(2;3) (q13;p25) / ', 'PPARG', 'PAX8', '19883731', '28', 'thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The role of the PAX8/PPARgamma fusion oncogene in the pathogenesis of follicular thyroid cancer..     ///    \"This chromatin rearrangement results in the expression of a PAX8/PPARgamma fusion protein, designated PPFP, whose incidence is relatively common in FTC and may represent an initiating event in the genesis of FTC. \"'), ('6184', 'P160_P15', 't(9;14)(p21;q32) / ', 'P160', 'P15', '8847892', '28', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'We have established a novel pre-B acute lymphoblastic leukemia (ALL) cell line (JKB2) with a chromosomal translocation between 9p2l and 14q32, on which p16INK4A/p15INK4B and heavy chain immunoglobulin (Ig) genes, respectively, are located.     ///    A novel pre-B acute lymphoblastic leukemia cell line with chromosomal translocation between p16(INK4A)/p15(INK4B) tumor suppressor and immunoglobulin heavy chain genes: TGFbeta/IL-7 inhibitory signaling mechanism..     ///    \"Homozygous deletions of P16INK4A/p15INK4B genes in JKB2 cells were confirmed by polymerase chain reaction, and their protein products were not detectable by Western blotting. \"'), ('6185', 'TCF3_PBX1', 'inv(16) / t(4;11)  / t(11;19) / ', 'TCF3', 'PBX1', '23091311', '28', '', 'PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6186', 'CCND1_PTH', '', 'CCND1', 'PTH', '8626826', '28', 'parathyroid adenoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Overexpression of the cyclin D1 oncogene in 18% of our cases, due to the cyclin D1/PTH translocation and/or other mechanisms, suggests that overexpressed cyclin D1 plays a role in the pathogenesis of a much larger proportion of parathyroid adenomas than previously appreciated. '), ('6187', 'PAX5_FOXP1', 't(3;9)(p13;p13) / ', 'PAX5', 'FOXP1', '21962897', '28', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'The PAX5-FOXP1 translocation is a nonrandom aberration, which is recurrent in both childhood and in adult B-ALL, and may contribute to leukemogenesis by blocking differentiation of hematopoietic cells into mature B-cells.. '), ('6188', 'MLLT10_MLL', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLLT10', 'MLL', '23091311', '28', '', 'PCR', '', '', '', '', '', 'KB', '', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6189', 'NUP214_DEK', 'inv(16) / t(4;11)  / t(11;19) / ', 'NUP214', 'DEK', '23091311', '28', '', 'PCR', '', '', '', '', '', 'KB', '', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6190', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '25709891', '28', 'leukemia\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Preleukemic or smoldering chronic myelogenous leukemia (CML):BCR-ABL1 positive: A brief case report.. '), ('6191', 'TLS_CHOP ', 't(12;16)  / ', 'TLS', 'CHOP ', '11802205', '28', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The TLS-CHOP protein consists of the N-terminal half of TLS juxtaposed to the N-terminal of the entire CHOP.     ///    An abnormal extra nuclear localization of PML bodies was also found in TLS-CHOP carrying cell lines established from myxoid liposarcomas.     ///    TLS-CHOP may disturb the nuclear machinery by binding and sequestering important factors from their natural sites..     ///    Transfection of TLS-CHOP to normal fibroblasts causes a rapid down regulation and relocation of PML nuclear bodies.     ///    Transfection of TLS-CHOP induced a rapid disappearance of PCNA.     ///    The myxoid liposarcoma specific TLS-CHOP fusion protein localizes to nuclear structures distinct from PML nuclear bodies.. '), ('6192', 'MLLT4_MLL', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLLT4', 'MLL', '23091311', '28', '', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6.     ///    \"Seven cryptic translocations including ETV6-RUNX1, MLL-MLLT3, MLL-MLLT4, and PML-RARA were detected. \"'), ('6193', 'MLL_AFF1', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLL', 'AFF1', '23091311', '28', '', 'PCR', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6194', 'BCR_ABL1', 't(9;22)(q34;q11) / ', 'BCR', 'ABL1', '25337274', '28', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Expression of CD25 is a specific and relatively sensitive marker for the Philadelphia chromosome (BCR-ABL1) translocation in pediatric B acute lymphoblastic leukemia.. '), ('6195', 'FGFR1_CEP110', 'p11;q12 / t(8;9) (p11;q32) / ', 'FGFR1', 'CEP110', '24343089', '28', 'T cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'The CEP110-FGFR1 fusion transcript was detected by RT-PCR. '), ('6196', 'BCR_ABL1', '', 'BCR', 'ABL1', '8340287', '28', 'acute lymphoid leukemia', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Consistent with this result, polymerase chain reaction (PCR) analyses detected a BCR-ABL mRNA with BCR exon 1 fused to ABL exon 2. '), ('6197', 'HES_CEL', '', 'HES', 'CEL', '18512307', '28', 'leukemia;hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The clinical manifestations, laboratory parameters were retrospectively analyzed in 20 patients with HES/CEL.     ///    \"(1) There is a male predominance in HES/CEL, and the median age was in the thirties. \"'), ('6198', 'PPARG_PAX8', 't(2;3)(q13;p25) / ', 'PPARG', 'PAX8', '15972966', '28', 'follicular thyroid carcinoma', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Moreover many genes involved in PAX8-PPARgamma expression profile presented a putative PPARgamma-promoter site, compatible with a direct activity of the fusion product. '), ('6199', 'MLLT6_MLL', 'inv(16) / t(4;11)  / t(11;19) / ', 'MLLT6', 'MLL', '23091311', '28', '', 'PCR', '', '', '', '', '', '', '', 'Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL-ELL, MLL-MLLT1, and MLL-MLLT6. '), ('6200', 'FB1_E2A', '19p13.3 / ', 'FB1', 'E2A', '10086727', '28', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The E2A/FB1 fusion appears to be a recurrent feature of pre-B ALLs, suggesting that it might have a role in the development and/or progression of leukemogenesis.. '), ('6201', 'STAT5B_RARA', 't(15;17) / ', 'STAT5B', 'RARA', '26414475', '28', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'It is important to identify these cryptic and variant translocations because certain variants, including ZBTB16/RARA and STAT5B/RARA, are resistant to treatment with all-trans retinoic acid, arsenic trioxide, and anthracyclines. '), ('6202', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '26563884', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Potential Therapeutic Approaches for the Treatment of Acute Myeloid Leukemia with AML1-ETO Translocation..     ///    \"Further, newer technologies like combining gene expression and DNA occupancy profiling assays, gene expression-based high-throughput screening, etc have led to identification of proteins or pathways that are required by AML1-ETO for leukemogenesis and the agents that modulate these proteins to be considered good candidates for targeted molecular therapy. \"    ///     Twenty percent of patients with Acute Myeloid Leukemia (AML) carry a translocation between chromosomes 21 and chromosome 8 resulting in the formation of a chimeric oncoprotein AML1-ETO. '), ('6203', 'STS1_CBL', 't(8;21)  / ', 'STS1', 'CBL', '26449661', '28', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO.. '), ('6204', 'ZBTB16_RARA', 't(15;17) / ', 'ZBTB16', 'RARA', '26414475', '28', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', '', 'It is important to identify these cryptic and variant translocations because certain variants, including ZBTB16/RARA and STAT5B/RARA, are resistant to treatment with all-trans retinoic acid, arsenic trioxide, and anthracyclines.     ///    \"With the exception of ZBTB16/RARA, these variants have similar morphologic and immunophenotypic features as classic APL. \"'), ('6205', 'TGFB_IL7', 't(9;14)(p21;q32) / ', 'TGFB', 'IL7', '8847892', '28', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'A novel pre-B acute lymphoblastic leukemia cell line with chromosomal translocation between p16(INK4A)/p15(INK4B) tumor suppressor and immunoglobulin heavy chain genes: TGFbeta/IL-7 inhibitory signaling mechanism.. '), ('6206', 'JJAZ1_JAZF1', '', 'JJAZ1', 'JAZF1', '18580489', '27', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'JAZF1-JJAZ1 fusion transcript was detected in 6 (50%) out of 12 ESS-LG and in 1 (33%) of 3 UES-U, whereas it was not detected in any of the cases of UES-P. '), ('6207', 'KIF5B_RET', '', 'KIF5B', 'RET', '23877438', '27', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To better understand the role of recently identified ROS1 and RET fusion oncokinases in pulmonary carcinogenesis, we examined 114 NSCLCs for SLC34A2-ROS1, EZR-ROS1, CD74-ROS1 and KIF5B-RET fusion transcripts using RT-polymerase chain reaction and subsequent sequencing analyses.    ///    \"To better understand the role of recently identified ROS1 and RET fusion oncokinases in pulmonary carcinogenesis, we examined 114 NSCLCs for SLC34A2-ROS1, EZR-ROS1, CD74-ROS1 and KIF5B-RET fusion transcripts using RT-polymerase chain reaction and subsequent sequencing analyses. \"    ///    \"Although the expression of SLC34A2-ROS1, EZR-ROS1, or KIF5B-RET fusion transcripts was not detected in any of the cases, the expression of CD74-ROS1 fusion transcripts was detected in one (0.9%) of the 114 NSCLCs. \"');
INSERT INTO `ChimerPub_dump` VALUES ('6208', 'MYH11_CBF', '', 'MYH11', 'CBF', '16643429', '27', '', '', '', '', '', '', '', '', '', 'Comparison of methylation data with a series of other molecular alterations in the same patient materials revealed a correlation between hypermethylation of the RARbeta2 promoter and the presence of CBF-MYH11 fusion transcripts (P < 0.01).     ///    Our data suggest that RARbeta2 promoter methylation is frequent in AML and may co-operate with the expression of CBF-MYH11 fusion transcripts in leukaemogenesis.. '), ('6209', 'ROS1_EZR', '', 'ROS1', 'EZR', '23877438', '27', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Although the expression of SLC34A2-ROS1, EZR-ROS1, or KIF5B-RET fusion transcripts was not detected in any of the cases, the expression of CD74-ROS1 fusion transcripts was detected in one (0.9%) of the 114 NSCLCs.     ///    \"To better understand the role of recently identified ROS1 and RET fusion oncokinases in pulmonary carcinogenesis, we examined 114 NSCLCs for SLC34A2-ROS1, EZR-ROS1, CD74-ROS1 and KIF5B-RET fusion transcripts using RT-polymerase chain reaction and subsequent sequencing analyses.\"    ///    \"To better understand the role of recently identified ROS1 and RET fusion oncokinases in pulmonary carcinogenesis, we examined 114 NSCLCs for SLC34A2-ROS1, EZR-ROS1, CD74-ROS1 and KIF5B-RET fusion transcripts using RT-polymerase chain reaction and subsequent sequencing analyses. \"'), ('6210', 'EWS_ERG', '', 'EWS', 'ERG', '8648380', '27', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Fifteen cases of EWS-ERG rearrangement were identified. '), ('6211', 'NPM1_ALK', '', 'NPM1', 'ALK', '19545284', '27', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Distribution of NPM1-ALK and X-ALK fusion transcripts in paediatric anaplastic large cell lymphoma: a molecular-histological correlation..     ///    \"Reverse transcription polymerase chain reaction detected NPM1-ALK in 58 tumours, all showing nuclear and cytoplasmic ALK staining. \"    ///    \"Reverse transcription polymerase chain reaction detected NPM1-ALK in 58 tumours, all showing nuclear and cytoplasmic ALK staining.\"    ///    Almost 90% of paediatric ALK-positive ALCLs express NPM1-ALK. '), ('6212', 'TEL_MN1', 'p13;q11 / t(12;22) (p13;q11) / t(5;12)  / ', 'TEL', 'MN1', '7731705', '27', 'lymphoid leukemia', '', '', '', '', '', '', '', '', 'The translocation results in transcription of the reciprocal fusion mRNAs, MN1-TEL and TEL-MN1, of which MN1-TEL is likely to encode an aberrant transcription factor containing the ETS DNA-binding domain of TEL. '), ('6213', 'RET_PTC3', '', 'RET', 'PTC3', '8806700', '27', 'thyroid carcinoma;thyloid cancer\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Now we found a new type of RET rearrangement: By the 5\'RACE method we demonstrated in cDNA the fusion of the tyrosine kinase domain of RET with a truncated ELE1 gene shorter than the ELE1 in RET/PTC3.     ///    Obviously the new and possibly additional ELE/RET fusion molecules might even increase the high prevalence of ELE1/RET rearrangements in thyroid carcinomas of children after the Chernobyl reactor accident.. '), ('6214', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23447416', '27', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'This strategy showed > 90% sensitivity and specificity in identifying TMPRSS2-ERG rearrangements, and allowed identification of intra- and inter-chromosomal rearrangements involving TMPRSS2 and ERG with known and novel fusion partners.    ///    \"This strategy showed > 90% sensitivity and specificity in identifying TMPRSS2-ERG rearrangements, and allowed identification of intra- and inter-chromosomal rearrangements involving TMPRSS2 and ERG with known and novel fusion partners. \"    ///     TMPRSS2-ERG rearrangements occur in approximately 50% of prostate cancers and therefore represent one of the most frequently observed structural rearrangements in all cancers.     ///    The observed TMPRSS2-ERG rearrangements often exhibited complex chromosomal architecture associated with several intra- and inter-chromosomal rearrangements. '), ('6215', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '15085762', '27', 'rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular examination revealed a PAX3-FKHR fusion transcript specific to the alveolar type of rhabdomyosarcoma. '), ('6216', 'MLL_AF10', '', 'MLL', 'AF10', '7564531', '27', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'A novel type of MLL/AF10 fusion transcript in a child with acute megakaryocytic leukemia (AML-M7). '), ('6217', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '19017053', '27', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Dermatofibrosarcoma protuberans with COL1A1-PDGFB fusion transcript arising on a scar due to a previous drainage tube insertion.. '), ('6218', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '22548077', '27', 'pilocytic astrocytoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this paper, we describe a novel KIAA1549:BRAF fusion transcript in a sporadic PA tumor associated with increased ERK activation and review the spectrum of BRAF genetic alterations in this common pediatric low-grade central nervous system neoplasm.. '), ('6219', 'PDGFB_COL1A1', 't(17;22)  / ', 'PDGFB', 'COL1A1', '9739023', '27', 'giant cell fibroblastoma', '', '', 'Oncogene', '', '', '', 'KB', '', 'All 16 tumors studied contained the COL1A1/PDGFB gene.     ///    We now report characterization of COL1A1/PDGFB chimeric genes at the RNA and DNA sequence levels in a series of DFSPs and GCFs.     ///    Its retention in all chimeric COL1A1/PDGFB genes suggests that it is important for the normal processing of the PDGFB polypeptide.. '), ('6220', 'SYT_SSX', '', 'SYT', 'SSX', '17152284', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction demonstrated the presence of a SYT-SSX fusion transcript. '), ('6221', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '11745240', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In one of these patients, the PAX3-FKHR fusion transcript was detected. '), ('6222', 'SYT_SSX1', '', 'SYT', 'SSX1', '17880539', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular characterization of a novel variant of a SYT-SSX1 fusion transcript in synovial sarcoma.. '), ('6223', 'SYT_SSX1', '', 'SYT', 'SSX1', '16286044', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The histopathologic diagnosis was supported by the immunohistochemical profile and the presence of the SYT-SSX1 fusion transcript identified by molecular genetic studies.. '), ('6224', 'NDE1_PDGFRB', '', 'NDE1', 'PDGFRB', '17301821', '27', 'Noonan Syndrome', '', 'Kinase', '', '', 'Receptor', '', '', '', 'A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome.     ///    A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome.. '), ('6225', 'CRTC1_MAML2', '', 'CRTC1', 'MAML2', '19531414', '27', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'p27Kip1, Ki-67, and the CRTC1-MAML2 fusion transcript were expressed in 71, 31, and 34 of the 101 cases, respectively.    ///    \"p27Kip1, Ki-67, and the CRTC1-MAML2 fusion transcript were expressed in 71, 31, and 34 of the 101 cases, respectively. \"    ///    \"Prognostic significance of p27Kip1, Ki-67, and CRTC1-MAML2 fusion transcript in mucoepidermoid carcinoma: a molecular and clinicopathologic study of 101 cases.. \"    ///    MEC cases (n = 101) were examined for p27Kip1 and Ki-67 expression using immunohistochemistry and for CRTC1-MAML2 fusion transcript using reverse transcriptase-polymerase chain reaction.     ///    p27Kip1 and CRTC1-MAML2 fusion were associated with favorable clinicopathologic tumor features and Ki-67 with aggressive clinicopathologic features.    ///    \"In each analysis, p27Kip1 and CRTC1-MAML2 fusion were independent of the clinical stage.\"    ///    \"For overall survival, p27Kip1 expression, CRTC1-MAML2 fusion, and tumor size were significant.\"    ///    \"Multivariate survival analyses were performed that included the following 10 clinicopathologic factors: age, gender, tumor site, tumor size, nodal metastasis, clinical stage, histologic grade, p27 expression, Ki-67 expression, and CRTC1-MAML2 fusion. \"    ///    \"In the present study, we investigated the prognostic significance of p27Kip1, Ki-67, and CRTC1 (also called MECT1, TORC1, and WAMTP1)-MAML2 fusion in MEC. \"    ///    \"In each analysis, p27Kip1 and CRTC1-MAML2 fusion were independent of the clinical stage. \"    ///    \"For overall survival, p27Kip1 expression, CRTC1-MAML2 fusion, and tumor size were significant. \"    ///    \"p27Kip1 and CRTC1-MAML2 fusion were associated with favorable clinicopathologic tumor features, and both were useful in predicting the overall survival of patients with MEC. \"'), ('6226', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '16634907', '27', 'giant cell fibroblastoma', '', '', 'Oncogene', '', '', '', 'KB', '', 'Detection of COL1A1-PDGFB fusion transcripts and platelet-derived growth factor alpha and beta receptors in giant cell fibroblastoma of the postsacrococcygeal region.. '), ('6227', 'PDGFRB_TPM3', '', 'PDGFRB', 'TPM3', '16838028', '27', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', 'TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia.     ///    TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia.. '), ('6228', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '11107170', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This molecular genetics methodology has now been applied to numerous tumor samples and has led to the finding that, in contrast to tumors carrying SYT-SSX2 fusions, SYT-SSX1-positive tumors more often exhibit a biphasic histology, show a higher proliferation rate, and are associated with a poorer clinical outcome. '), ('6229', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '20406730', '27', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans.. '), ('6230', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '26221861', '27', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'All 12 patients with tumor tissue available for testing were positive for MECT1/MAML2 fusion transcripts.    ///    \"In contrast to adults, MECT1/MAML2 fusion transcripts occur with a frequency of 100% in our pediatric MEC series. \"'), ('6231', 'SYT_SSX1', '', 'SYT', 'SSX1', '11720441', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX1 fusion transcript appeared to be an independent, though not reaching statistical significance (P = 0.183), prognostic factor clearly associated with a reduced metastasis-free survival.     ///    \"Regarding the association between transcript type and histologic subtype we found, a borderline P value (P = 0.067) between the SYT-SSX1 transcript and the biphasic subtype which, subsequently expanding the analysis to 70 cases, turned out to be significant. \"    ///    \"However, we could not confirm the prediction value of the biphasic subtype for the presence of the SYT-SSX1 transcript since in our hands 6 out 33 (18%) biphasic tumours carried the SYT-SSX2 transcript.. \"'), ('6232', 'FUS_CHOP', '', 'FUS', 'CHOP', '15720420', '27', 'liposarcoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The present data show that the epithelioid variant of pleomorphic liposarcoma represents a further variant of myxoid liposarcoma sharing the FUS-CHOP fusion transcript but carrying a distinct expression profile, in keeping with its aggressive clinical course..     ///    Molecular analysis demonstrated for the first time the presence of FUS-CHOP transcript in this liposarcoma variant.     ///    Gene expression profile identifies a rare epithelioid variant case of pleomorphic liposarcoma carrying FUS-CHOP transcript.. '), ('6233', 'PRKACA_DNAJB1', '', 'PRKACA', 'DNAJB1', '26437858', '27', 'hepatocellular carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RNA-seq analysis confirms the presence of a fusion transcript (DNAJB1-PRKACA) characteristic of hFL-HCC tumours. '), ('6234', 'IGH_BCL2', 't(14;18)  / t(14;18) / ', 'IGH', 'BCL2', '19190694', '27', 'hepatitis;lymphoproliferative disorder', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bcl-2/IgH translocation was detected in 21 (38.2%) of all 55 chronically infected HCV patients.     ///    The bcl-2/IgH rearrangement was detected in peripheral blood mononuclear cells (PBMCs) by nested polymerase chain reaction. '), ('6235', 'MAML2_CRTC3', '', 'MAML2', 'CRTC3', '24150195', '27', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'CRTC3-MAML2 fusion transcript in a bronchial mucoepidermoid carcinoma.. '), ('6236', 'EML4_ALK', '', 'EML4', 'ALK', '24633422', '27', 'lung cancer;neuroblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This is the first report of the whole genomic sequencing of a papillary thyroid cancer in which we identified an EML4-ALK translocation of a TRAPP oncogene mutation.     ///    Whole-genome sequencing of an aggressive BRAF wild-type papillary thyroid cancer identified EML4-ALK translocation as a therapeutic target..     ///    \"The EML4-ALK translocation has been reported in approximately 5 % of lung cancers, as well as in pediatric neuroblastoma, and is a therapeutic target for crizotinib. \"'), ('6237', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '23910806', '27', 'osteosarcoma', '', '', '', '', '', '', '', '', 'PAX3-FKHR fusion transcripts were detected on reverse transcription-polymerase chain reaction. '), ('6238', 'TRP_DUP', '', 'TRP', 'DUP', '21964572', '27', '', '', '', '', '', '', '', '', '', 'We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by >300 kb, a genomic architecture that apparently leads to susceptibility to such complex rearrangements. '), ('6239', 'BCR_ABL1', '', 'BCR', 'ABL1', '26206693', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The e1a3 BCR-ABL1 fusion transcript in philadelphia chromosome-positive acute lymphoblastic leukemia.. '), ('6240', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19120352', '27', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Weekly imatinib dosage for chronic eosinophilic leukaemia expressing FIP1L1-PDGFRA fusion transcript: extended follow-up.. '), ('6241', 'NCOA4_MSMB', '', 'NCOA4', 'MSMB', '22661295', '27', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'Promoter variants in the MSMB gene associated with prostate cancer regulate MSMB/NCOA4 fusion transcripts..     ///    \"Here, we provide evidence for the expression of full-length MSMB-NCOA4 fusion transcripts regulated by the MSMB promoter. \"    ///    \"The predominant MSMB-NCOA4 transcript arises by fusion of the 5\'UTR and exons 1-2 of the MSMB pre-mRNA, with exons 2-10 of the NCOA4 pre-mRNA, producing a stable fusion protein, comprising the essential domains of NCOA4. \"'), ('6242', 'CSF2RA_CRLF2', '', 'CSF2RA', 'CRLF2', '24935070', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Messenger RNA sequencing revealed a novel fusion transcript, CSF2RA-CRLF2, in a case with CRLF2 OE, suggesting that this fusion is associated with CRLF2 OE. '), ('6243', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17654661', '27', 'myeloproliferative disorder;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The most frequently encountered genetic aberrancy is the cryptic FIP1-like 1/platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) fusion transcript, which results in an eosinophilic, myeloproliferative disorder. '), ('6244', 'SYT_SSX', '', 'SYT', 'SSX', '25659258', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular diagnosis was done by detection of SYT/SSX fusion transcript. '), ('6245', 'SYT_SSX', '', 'SYT', 'SSX', '19088035', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX fusion transcript data were available for 132 patients. '), ('6246', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '25999740', '27', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We report an uncommon case of primary paraesophageal Ewing\'s sarcoma in a 25-year-old male harboring the infrequent EWSR1/ERG fusion transcript with multiple splice variants coexisting in the same tumor. '), ('6247', 'PDGFRA_BCR', '', 'PDGFRA', 'BCR', '25941032', '27', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Here we describe a patient with a rare CML-like disease in whom we identified a novel in-frame BCR-PDGFRA rearrangement joining BCR exon 17 to PDGFRA exon 13, resulting in overexpression of PDGFRA.     ///    \"The design of a specific quantitative PCR assay to monitor the molecular response during treatment with imatinib, a multitargeted tyrosine kinase inhibitor (TKI) with activity against ABL, c-Kit, and PDGFRA revealed an outstanding disease control with durably undetectable BCR-PDGFRA transcripts. \"'), ('6248', 'SYT_SSX', '', 'SYT', 'SSX', '11129448', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT-SSX fusion transcripts and epithelial differentiation in synovial sarcoma.. '), ('6249', 'SYT_SSX', '', 'SYT', 'SSX', '12187231', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Primary synovial sarcoma of the kidney diagnosed by molecular detection of SYT-SSX fusion transcripts.. '), ('6250', 'TEL_AML1', '', 'TEL', 'AML1', '16673018', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A novel TEL-AML1 fusion transcript involving the pro-apoptotic gene BCL-G in pediatric precursor B acute lymphoblastic leukemia.. '), ('6251', 'ROS1_CD74', '', 'ROS1', 'CD74', '23877438', '27', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'CD74-ROS1 fusion transcripts in resected non-small cell lung carcinoma..     ///    \"Although the expression of SLC34A2-ROS1, EZR-ROS1, or KIF5B-RET fusion transcripts was not detected in any of the cases, the expression of CD74-ROS1 fusion transcripts was detected in one (0.9%) of the 114 NSCLCs. \"    ///    \"To better understand the role of recently identified ROS1 and RET fusion oncokinases in pulmonary carcinogenesis, we examined 114 NSCLCs for SLC34A2-ROS1, EZR-ROS1, CD74-ROS1 and KIF5B-RET fusion transcripts using RT-polymerase chain reaction and subsequent sequencing analyses. \"    ///    The above results suggest that CD74-ROS1 fusion is involved in the carcinogenesis of a subset of NSCLCs and may contribute to the elucidation of the characteristics of ROS1 fusion-positive NSCLC in the future.. '), ('6252', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '26355764', '27', 'dermatofibrosarcoma,', '', '', 'Oncogene', '', '', '', 'KB', '', 'The diagnosis was confirmed by the detection of the characteristic COL1A1/PDGFB fusion transcript by reverse-transcription polymerase chain reaction. '), ('6253', 'SYT_SSX', '', 'SYT', 'SSX', '15717763', '27', 'synovial sarcoma;neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemistry and identification of SYT/SSX fusion transcript are useful for confirmation.. '), ('6254', 'BCR_ABL1', '', 'BCR', 'ABL1', '26023536', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Erratum: Two Cases of Acute Lymphoblastic Leukemia with an e1a3 BCR-ABL1 Fusion Transcript.. '), ('6255', 'STAT5B_RARA', '', 'STAT5B', 'RARA', '25629986', '27', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Novel STAT5B-RARA fusion transcript in acute promyelocytic leukemia: identification and treatment response.. '), ('6256', 'TPO_EPO', '', 'TPO', 'EPO', '18726261', '27', '', '', '', '', '', '', '', '', '', 'In order to study the possibility of using TPO-EPO fusion protein for the curing of anemia and thrombocytopenia induced by high dose chemotherapy, a fusion gene is constructed by linking TPO N-terminal 153 peptideand EPO mature peptide-coding region.     ///    \"The preliminaryin vivo experiment reveals that the TPO-EPO fusion protein containing cell supernatant raises the platelet level by 37 % in mice, while its function on erythroid hematopoiesis remains to be determined. \"    ///    These results indicate that the construction of TPO-EPO fusion protein and the further study of its use in high dose chemotherapy are possible.. '), ('6257', 'MS4A7_C2CD3', '', 'MS4A7', 'C2CD3', '22807096', '27', 'squamous cell carcinoma;leukemia;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Two novel cancer-specific translocations involving MGST3-ZMAT5 and MS4A7-C2CD3 were found in 2 of the tumor samples tested. '), ('6258', 'RET_PTC', '', 'RET', 'PTC', '18335752', '27', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', ' To investigate the characteristics of RET/PTC and H47PTEN rearrangement and the association between gene rearrangement and clinicopathological properties of thyroid carcinoma.     ///    H4-PTEN rearrangement can occur simultaneously with RET/PTC rearrangement in PTC.     ///    \"In 3 cases, both RET/PTC and H4-PTEN were identified simultaneously. \"    ///    \"Rearrangement of RET/PTC-1, RET/PTC-2, RET/PTC-3, ELKS-RET and H4-PTEN (H4/PTEN and PTEN/H4) was analyzed in 139 thyroid tumor tissues by using RT-PCR and sequencing. \"    ///    High frequency of lateral neck lymph node involvement was detected in RET/PTC positive PTC (P < 0.01).     ///    \"Twelve RET/PTC-1, 6 RET/PTC-3, 6 H4/PTEN and 7 PTEN/H4 were detected in 126 papillary thyroid carcinomas. \"'), ('6259', 'BCR_ABL1', '', 'BCR', 'ABL1', '22208485', '27', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To describe the approach used by an individual laboratory for development and validation of a laboratory-developed quantitative reverse transcription polymerase chain reaction test for BCR-ABL1 fusion transcripts.     ///    Elements of design and analytic validation of a laboratory-developed quantitative molecular test are discussed using quantitative detection of BCR-ABL1 fusion transcripts as an example.     ///    Design and analytic validation of BCR-ABL1 quantitative reverse transcription polymerase chain reaction assay for monitoring minimal residual disease..     ///    We demonstrate how one laboratory validated and clinically implemented a quantitative BCR-ABL1 assay that can be used for the management of patients with chronic myelogenous leukemia.. '), ('6260', 'IGH_BCL2', '', 'IGH', 'BCL2', '16840191', '27', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Bcl-2/IgH rearrangement is the molecular hallmark of follicular lymphoma which is present in 70 - 90% of cases at diagnosis.     ///    \"Of 98 patients studied at initial staging for the presence of bcl-2 rearrangement, 64 (65%) showed bcl-2/IgH rearrangement in peripheral blood (PB) and/or bone marrow (BM) (58 at Major Breakpoint Region, MBR, and 6 at minor cluster region, mcr) while no bcl-2/IgH rearrangement was detected in the remaining 34 (35%) (germline status). \"'), ('6261', 'RET_PTC3', '', 'RET', 'PTC3', '9192845', '27', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The RET/PTC3 oncogene is an activated form of the RET protooncogene, which is frequently rearranged in papillary thyroid carcinoma.     ///    \"RET/PTC3 results from a structural rearrangement between the ELE1 and the RET genes, and it has been observed in both sporadic and radiation-associated post-Chernobyl tumors. \"    ///    \"Notably, in all sporadic tumors and in one post-Chernobyl tumor the ELE1/RET recombination corresponded with short sequences of homology (3-7 nt) between the two rearranging genes. \"    ///    Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomas..     ///    \"To understand the molecular basis that predisposes RET and ELE1 genes to be recurrent targets of \"\"illegitimate\"\" recombination, we examined the genomic regions containing the ELE1/RET breakpoints of six sporadic and three post-Chernobyl tumors in two papillary carcinomas of different origins. \"'), ('6262', 'SYT_SSX2', '', 'SYT', 'SSX2', '20377831', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Upon tumor recurrence, molecular detection of SYT-SSX2 fusion transcripts lead to the diagnosis of synovial sarcoma of the kidney. '), ('6263', 'RET_PTC', '', 'RET', 'PTC', '12517951', '27', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Thyroid epithelial cells frequently express one or more members of the rearranged during transfection/papillary thyroid carcinoma (RET/PTC) fusion oncogene family during early stages of cancer, and fusion gene transcripts have been found in inflammatory conditions of the thyroid such as the autoimmune disease, Hashimoto\'s thyroiditis.     ///    \"Because these oncogenes encode chimeric proteins, novel RET/PTC epitopes may be targets of antitumor immune responses. \"'), ('6264', 'CD5_CD19', '', 'CD5', 'CD19', '1282428', '27', 'chronic lymphocytic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Evaluation of residual disease in B-cell chronic lymphocytic leukemia patients in clinical and bone-marrow remission using CD5-CD19 markers and PCR study of gene rearrangements.. '), ('6265', 'PRKACA_DNAJB1', '', 'PRKACA', 'DNAJB1', '25557953', '27', 'hepatic cancer;liver cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'FLCs contain mutations and chromosomal aberrations not previously associated with liver cancer, and almost 80% contain the DNAJB1-PRKACA fusion transcript.     ///    we also assessed the prevalence of the DNAJB1-PRKACA fusion transcript associated with this cancer (n = 73).     ///    The DNAJB1-PRKACA fusion transcript was detected in 79% of samples. '), ('6266', 'POLA2_CDC42EP2', '', 'POLA2', 'CDC42EP2', '25987131', '27', 'gastrointestinal stromal tumor\r\r', '', '', '', '', '', '', '', '', 'We additionally identified three recurrent read-through fusion transcripts: POLA2-CDC42EP2, C8orf42-FBXO25, and STX16-NPEPL1. '), ('6267', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '26115961', '27', 'glioma;pilocytic astrocytoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549-BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification..     ///    \"Combination of IDH1-R132, BRAF V600 and KIAA1549-BRAF fusion analysis is therefore a useful tool to increase diagnostic accuracy in pediatric gliomas.. \"'), ('6268', 'TRP_INV', '', 'TRP', 'INV', '21964572', '27', '', '', '', '', '', '', '', '', '', 'All the complex rearrangement products share a common genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the triplicated segment is inverted and located between directly oriented duplicated genomic segments.     ///    \"We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by >300 kb, a genomic architecture that apparently leads to susceptibility to such complex rearrangements. \"'), ('6269', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '9285794', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'It is proposed that the t(X;18) translocation results in the generation of an SYT-SSX transcriptional co-activator in which the addition of the C-terminal SSX domain to SYT provides a new interacting domain that redirects the SYT activation domain to different target promoters..     ///    Transfection of constructs expressing GAL4 fusion proteins demonstrate that the SYT domains present in the SYT-SSX fusion proteins can activate transcription of a luciferase reporter.     ///    \"Using green fluorescent protein fusions we demonstrate that the SYT, SSX and the SYT-SSX proteins are nuclear proteins. \"'), ('6270', 'TEL_AML1', '', 'TEL', 'AML1', '10086740', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'TEL-AML1 fusion transcript designates a favorable outcome with an intensified protocol in childhood acute lymphoblastic leukemia.. '), ('6271', 'BCL2_IGH', '', 'BCL2', 'IGH', '10102612', '27', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'bcl-2/IgH translocation was also studied. '), ('6272', 'TEL_ARG', '', 'TEL', 'ARG', '16310306', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' We previously identified TEL/ARG as a novel fusion transcript consisting of the oligomerization domain of TEL and the kinase domain of ARG, in a case of acute myeloid leukemia.     ///    \"We report here the existence of an alternatively spliced TEL/ARG transcript lacking part of a F-actin binding domain of ARG, and the phenotype of TEL/ARG expressing 293T cells. \"    ///    \"In 293T cells, both TEL/ARG forms co-localized with the cellular beta-actin and were associated with a morphologic change of the cells, consisting in cell rounding and detachment from the tissue culture plastic. \"    ///    TEL/ARG induces cytoskeletal abnormalities in 293T cells.. '), ('6273', 'ZMAT5_MGST3', '', 'ZMAT5', 'MGST3', '22807096', '27', 'squamous cell carcinoma;leukemia;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Two novel cancer-specific translocations involving MGST3-ZMAT5 and MS4A7-C2CD3 were found in 2 of the tumor samples tested. '), ('6274', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23491079', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', ' We report on a rare case of a 3-year-old boy with B-cell acute lymphoblastic leukemia (B-ALL), which was characterized simultaneously with two different fusion transcripts: ETV6-RUNX1 and BCR-ABL1 (e1a2).     ///    Simultaneous occurrence of ETV6-RUNX1 and BCR-ABL1 (e1a2) transcripts in a child with B-cell acute lymphoblastic leukemia..     ///    \"however, molecular analysis revealed the BCR-ABL1 (p190) and ETV6-RUNX1 transcripts. \"'), ('6275', 'MYH11_CBFB', 'inv(16)(p13q22) / inv(16)  / inv(16) / del(7)(q32) / del(16)(q22) / ', 'MYH11', 'CBFB', '21763633', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Our patient was a 30-year-old man with newly diagnosed acute myeloid leukemia who was found to have a CBFB-MYH11 fusion by reverse transcriptase-polymerase chain reaction. '), ('6276', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '17515123', '27', 'hepatic veno-occlusive disease', '', '', '', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction demonstrated PAX3/FKHR fusion transcripts, confirming the diagnosis of alveolar rhabdomyosarcoma. '), ('6277', 'SYT_SSX', '', 'SYT', 'SSX', '16723849', '27', 'ganglion cyst;glomus tumor;synovial sarcoma', '', '', '', '', '', '', '', '', 'SYT-SSX fusion transcripts were demonstrated in 5 cases studied by polymerase chain reaction assay. '), ('6278', 'BCR_ABL1', '', 'BCR', 'ABL1', '22031455', '27', 'lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'As previously reported, Bcl-2 expression was lower in B-LL with BCR-ABL1 gene rearrangement, but the fluorescence intensity of this group of specimens was still significantly higher than that seen for hematogones. '), ('6279', 'INV_DUP', '', 'INV', 'DUP', '25749076', '27', 'Pelizaeus-Merzbacher disease', '', '', '', '', '', '', '', '', 'We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a DUP-TRP/INV-DUP rearrangement product.     ///    An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals. '), ('6280', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23488608', '27', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia.. '), ('6281', 'MLL_FOXR1', '', 'MLL', 'FOXR1', '21860421', '27', 'neuroblastoma;osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Genes at the proximal side of the deletion were fused to FOXR1, resulting in fusion transcripts of MLL-FOXR1 and PAFAH1B2-FOXR1. '), ('6282', 'TRP_DUP', '', 'TRP', 'DUP', '25749076', '27', 'Pelizaeus-Merzbacher disease', '', '', '', '', '', '', '', '', 'We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a DUP-TRP/INV-DUP rearrangement product.     ///    An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals. '), ('6283', 'EML4_ALK', '', 'EML4', 'ALK', '26037683', '27', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We report the case of a 54-year-old woman with a primary bronchial adenocarcinoma with an EML4-ALK translocation. '), ('6284', 'STAT6_NAB2', '', 'STAT6', 'NAB2', '25516114', '27', 'solitary fibrous tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'NAB2-STAT6 fusion transcripts were detected by reverse transcriptase polymerase chain reaction in both the conventional and high-grade components. '), ('6285', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '24917491', '27', 'hematologic malignancy;tumor lysis syndrome', '', '', '', '', '', '', '', '', 'Brain biopsy showed brain metastasis with PAX3-FKHR fusion transcript. '), ('6286', 'BCR_ABL1', '', 'BCR', 'ABL1', '22249155', '27', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'International reporting scale of BCR-ABL1 fusion transcript in chronic myeloid leukemia: first report from India..     ///    \"In collaboration with an international reference laboratory in Adelaide, S.A., Australia, we have established and validated a lab-specific conversion factor for expressing BCR-ABL1 transcript levels in the IS. \"    ///    \"In this report, we explain the process and steps involved in obtaining a valid lab-specific conversion factor for expressing BCR-ABL1 transcript levels in the IS.. \"    ///    \"This requires accurate measurement of BCR-ABL1 transcripts normalized to a control gene, as well as defining a level (BCR-ABL1/control gene ratio) that will correlate with sustained clinical response. \"    ///    A BCR-ABL1/control gene ratio of 0.10% represents MMR in the IS. '), ('6287', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '18835836', '27', 'T ALL;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Most of these samples were further studied for NUP214-ABL1 and CALM-AF10 fusion transcripts.     ///    \"Likewise, the frequency and the prognostic significance in pediatric T-cell acute lymphoblastic leukemia of the newly characterized NUP214-ABL1 fusion transcript is not yet clear. \"    ///    \"When co-expressed with TLX3, NUP214-ABL1 transcripts may increase the risk of poor survival.. \"    ///    NUP214-ABL1 was expressed in 16.6% of patients with TLX3-positive T-ALL (3 of 18). '), ('6288', 'GPB5_GPA2', '', 'GPB5', 'GPA2', '22085792', '27', '', '', '', '', '', '', '', '', '', 'Our model suggests that vertebrate gph? and gph? were generated by a specific local duplication of the ancestral forms of gpa2 and gpb5, followed by a translocation of gph? to a new environment whereas gph? was retained in the gpa2-gpb5 locus. '), ('6289', 'MYH11_CBF', '', 'MYH11', 'CBF', '7662994', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Novel CBF beta-MYH11 fusion transcripts and alternative splicing in acute myeloid leukemia with inversion of chromosome 16.. '), ('6290', 'RUNX1_MECOM', '', 'RUNX1', 'MECOM', '25379409', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'An unusual case of splenomegaly and increased lactate dehydrogenase heralding acute myeloid leukemia with eosinophilia and RUNX1-MECOM fusion transcripts..     ///    \" We report the first case of acute myeloid leukemia (AML) with RUNX1-MECOM fusion transcripts, showing marked eosinophilia. \"'), ('6291', 'BCR_ABL1', '', 'BCR', 'ABL1', '22166509', '27', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This patient\'s poor clinical outcome may have been exacerbated by the acquisition of the BCR-ABL1 fusion transcript overlapping with the aggressive nature of MDS-F..     ///    We report the case of a 66-year-old male patient diagnosed with refractory anemia with excess blasts-2 with fibrosis (MDS RAEB-2-F) with a normal karyotype and negative findings for both BCR-ABL1 transcript and JAK2 V617F mutations.     ///    Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes.. '), ('6292', 'BCR_ABL1', '', 'BCR', 'ABL1', '22614971', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'High-risk ALL was defined by MRD ? 1 ?? 10(-3) at week 12 and/or poor prednisolone response, BCR-ABL1, MLL gene rearrangements, hypodiploid less than 45 chromosomes, or induction failure. '), ('6293', 'GLIS2_CBFA2T3', '', 'GLIS2', 'CBFA2T3', '23407549', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'These data suggest that the presence of CBFA2T3-GLIS2 fusion transcript is a novel common feature of pediatric CN-AML, not restricted to the FAB M7 subtype, predicting poorer outcome..     ///    \"CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype.. \"    ///    \"In 3 patients we identified a recurrent cryptic inversion of chromosome 16, encoding a CBFA2T3-GLIS2 fusion transcript. \"    ///    \"Among a total of 20 patients with CBFA2T3-GLIS2 fusion transcript out of 237 investigated (8.4%), 10 patients (50%) did not belong to the French-American-British (FAB) M7 subgroup. \"'), ('6294', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '22571758', '27', 'myeloproliferative disease\r\r', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'ETV6-PDGFRB fusion transcript was not detected in all patients. '), ('6295', 'SSX_SS18', '', 'SSX', 'SS18', '21131827', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The diagnosis in all the cases was supported by immunohistochemical findings and reverse transcription polymerase chain reaction and sequencing demonstration of SS18/SSX fusion transcripts. '), ('6296', 'TLX3_RANBP17', 't(5;14)(q35;q32) / t(5;14)  / ', 'TLX3', 'RANBP17', '16926283', '27', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'It affects the BCL11B/CTIP2 locus on chromosome 14 and the RANBP17-TLX3/HOX11L2 region on chromosome 5. '), ('6297', 'SEC8L1_PTEN', 't(7;10)(q33;q23) / ', 'SEC8L1', 'PTEN', '15834588', '27', '', 'FISH;PCR;RT-PCR ', '', '', 'Tumor_suppressor', '', '', '', '', 'The patient\'s phenotype may be caused by a dominant-negative effect of the SEC8L1-PTEN fusion protein and/or haploinsufficiency of the disrupted or deleted genes. '), ('6298', 'TPR_MET', '', 'TPR', 'MET', '10760755', '27', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the current study the authors analyzed the rearrangement of TPR-MET in gastric carcinoma patients and in first-degree relatives to evaluate the potential role and timepoint of this genetic alteration in the process of gastric carcinogenesis and its potential value in identifying those individuals with an increased risk of developing gastric carcinoma.     ///    Frequency of TPR-MET rearrangement in patients with gastric carcinoma and in first-degree relatives..     ///    \"It is interesting to note that TPR-MET rearrangement also was detected in the gastric corpus mucosa of 1 first-degree relative (6%), but in none of the control subjects. \"    ///    The presence of TPR-MET mRNA was determined in gastric tissue from 19 patients with gastric carcinoma and in the gastric mucosa of 18 first-degree relatives without gastric carcinoma and in the gastric mucosa of 18 first-degree relatives without gastric carcinoma using a nested reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blot analysis.     ///    The data from the current study indicate that TPR-MET activation may be an early event in gastric carcinogenesis and may be useful for the identification of individuals with an increased risk of developing gastric carcinoma..     ///    \"Among these patients, TPR-MET mRNA was present in the both tumor and tumor free tissues in 5 patients (26%), in the tumor tissue only in 2 patients (11%), and in the tumor free gastric mucosa only in 2 patients (11%). \"    ///    TPR-MET mRNA was detected in nine gastric carcinoma patients (47%). '), ('6299', 'RARA_PL', '', 'RARA', 'PL', '11818666', '27', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' The presence of the characteristic fusion transcript gene, promyelocytic leukemia-retinoic acid receptor-alpha (PML-RARalpha), provided hematologists with a rationale for the use of all-trans retinoic acid (ATRA) for differentiation therapy for acute promyelocytic leukemia (APL). '), ('6300', 'SLC45A2_AMACR', '', 'SLC45A2', 'AMACR', '25238935', '27', 'prostate cancer\r\r', '', '', '', '', '', '', '', 'Seq', 'The analyses indicated that most patients [69 (91%) of 76] positive for any of these fusion transcripts (TRMT11-GRIK2, SLC45A2-AMACR, MTOR-TP53BP1, LRRC59-FLJ60017, TMEM135-CCDC67, KDM4-AC011523.2, MAN2A1-FER, and CCNH-C5orf30) experienced PCa recurrence, metastases, and/or PCa-specific death after radical prostatectomy. '), ('6301', 'RET_ELE1', '', 'RET', 'ELE1', '11340615', '27', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The RET-fused gene is obviously decisive for modulating tumor development: ELE1/RET rearrangements lead to most rapid tumor progression and are related to the solid variant of PTC, in contrast to H4/RET rearrangements connected with papillary or follicular variants of PTC. '), ('6302', 'NEU1_CTL4', '', 'NEU1', 'CTL4', '12067718', '27', 'sialidosis', '', '', '', '', '', '', '', '', 'Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient..     ///    \"In one patient we found the resulting CTL4/Neu1 fusion transcript, in the other we detected an alternatively spliced CTL4 transcript (retention of intron 9).. \"'), ('6303', 'SYT_SSX1', '', 'SYT', 'SSX1', '19559255', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A case of primary synovial sarcoma of the thorax with a variant SYT-SSX1 fusion transcript..     ///    \"A fragment of the SYT-SSX1 fusion transcript, which was smaller than the control, was amplified with reverse transcriptase polymerase chain reaction. \"'), ('6304', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16999279', '27', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'After 3 months of therapy, the FIP1L1-PDGFRA fusion transcript was no longer detectable in peripheral blood.     ///    [A man with FIP1L1/PDGFRA-positive chronic eosinophilic leukemia]..     ///    He appeared to have chronic eosinophilic leukaemia that was positive for the \'FIP1-like-1-platelet-derived growth factor receptor alpha\' (FIP1L1-PDGFRA) gene. '), ('6305', 'MALT1_API2', '', 'MALT1', 'API2', '17052258', '27', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'No API2-MALT1 fusion transcript was detected in any of the 14 cases examined.. '), ('6306', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '12842988', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' To evaluate the prognostic significance of quantitative PML-RARA, AML1-ETO, and CBFB-MYH11 fusion transcript expression, real-time polymerase chain reaction was used to analyze bone marrow samples of 349 such patients at diagnosis and 522 samples of 142 patients also during therapy (total analyses, n = 859. '), ('6307', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '22197543', '27', 'ewing sarcoma;rhabdomyosarcoma;neuroblastoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR fusion transcript was detected in 9 ARMS samples, PAX7-FKHR fusion transcript was detected in 7 ARMS samples, and 2 uncertain SRCTs were detected. '), ('6308', 'FLI_EWS', '', 'FLI', 'EWS', '9104953', '27', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'An intra-abdominal small round cell neoplasm with features of primitive neuroectodermal and desmoplastic round cell tumor and a EWS/FLI-1 fusion transcript..     ///    \"Reverse transcription polymerase chain reaction revealed a EWS/FLI-1 fusion transcript as in PNET/Ewing\'s sarcoma, instead of the EWS/WT1 transcript of DSRCT. \"'), ('6309', 'DMD_BMD', '', 'DMD', 'BMD', '19449031', '27', 'Duchenne and Becker muscular dystrophies', '', '', '', '', '', '', '', '', 'We examined 792 DMD/BMD clinical samples by oligonucleotide array-CGH and report on the junction sequence analysis of 15 unique deletion cases and three complex intragenic rearrangements to elucidate potential underlying mechanism(s). '), ('6310', 'CALM_AF10', '', 'CALM', 'AF10', '18835836', '27', 'T ALL;leukemia\r\r', '', '', '', '', '', '', '', '', 'Most of these samples were further studied for NUP214-ABL1 and CALM-AF10 fusion transcripts. '), ('6311', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '9844935', '27', '', '', '', '', '', '', '', '', '', 'Identification of a novel CBFB-MYH11 fusion transcript in a patient with AML and inversion of chromosome 16.. '), ('6312', 'ETO_AML1', '', 'ETO', 'AML1', '15988144', '27', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'AML1/ETO translocations were found in 9 of 29 spontaneous AML but only in 1 of 24 radiation-associated AML cases. '), ('6313', 'DMD_BMD', '', 'DMD', 'BMD', '23453023', '27', '', '', '', '', '', '', '', '', '', 'We found that 27.50% of cases had a family medical history of DMD/BMD, and large rearrangements were identified in 70.56% of the probands, of which 59.35% and 11.21% were deletions or duplications, respectively.     ///    \"Clinical data from 1053 Chinese patients with DMD/BMD were collected, and the DMD gene was tested by MLPA in all patients and 400 proband mothers. \"    ///    \"It is essential to increase physicians\' understanding of DMD/BMD, to promote scientific information, and to increase awareness in regards to genetic counseling and prenatal diagnosis in pedigrees with a family history of the disease, particularly in families with small DMD lesions in China. \"    ///    MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.. '), ('6314', 'BCR_ABL1', '', 'BCR', 'ABL1', '25553301', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Two cases of acute lymphoblastic leukemia with an e1a3 BCR-ABL1 fusion transcript.. '), ('6315', 'SYT_SS2', '', 'SYT', 'SS2', '22007079', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis indicated that the patient tested positive for the SYT/SS2 fusion transcript.. '), ('6316', 'SYT_SSX', '', 'SYT', 'SSX', '18633459', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Seventeen cases of pediatric SS showing the SYT-SSX fusion transcript were screened immunohistochemically, biochemically, molecularly, and cytogenetically (depending on the available material) to investigate any expression/activation of epidermal growth factor receptor, platelet-derived growth factor receptor alpha (PDGFRalpha), PDGFRbeta, Akt, and deregulated Wnt pathway. '), ('6317', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '11846302', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Because the majority of ARMS expressed either the PAX3/FKHR or PAX7/FKHR fusion transcript, the low level of expression may be related to the redox activity of APE/ref1. '), ('6318', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '11846302', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Because the majority of ARMS expressed either the PAX3/FKHR or PAX7/FKHR fusion transcript, the low level of expression may be related to the redox activity of APE/ref1. '), ('6319', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8415704', '27', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The PML-retinoic acid receptor alpha translocation converts the receptor from an inhibitor to a retinoic acid-dependent activator of transcription factor AP-1.. '), ('6320', 'IGH_BCL2', '', 'IGH', 'BCL2', '11208834', '27', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To determine the incidence and frequency of the Bcl-2/IgH rearrangement in the peripheral blood of normal individuals to define the potential complication this may pose for the molecular monitoring of disease in patients with follicular lymphoma (FL).     ///    \"Twenty three percent of samples were positive for the Bcl-2/IgH rearrangement, with approximately 3% of these at levels of more than 1 in 10(4) cells. \"    ///    Frequency of the Bcl-2/IgH rearrangement in normal individuals: implications for the monitoring of disease in patients with follicular lymphoma.. '), ('6321', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16819435', '27', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Allogeneic bone marrow transplantation for hypereosinophilic syndrome: long-term follow-up with eradication of FIP1L1-PDGFRA fusion transcript.. '), ('6322', 'NUP98_NSD1', '', 'NUP98', 'NSD1', '12931227', '27', '', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia.. '), ('6323', 'FN1_ACVR2A', '', 'FN1', 'ACVR2A', '25024164', '27', 'chondrosarcoma;osteochondromatosis', '', 'Kinase', '', '', '', '', '', '', 'Furthermore, a novel FN1-ACVR2A fusion transcript was observed in both chondrosarcoma and osteochondromatosis cases. '), ('6324', 'ETO_AML1', '', 'ETO', 'AML1', '17485549', '27', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', '', '', '', ' AML1/RUNX1 is implicated in leukemogenesis on the basis of the AML1-ETO fusion transcript as well as somatic mutations in its DNA-binding domain. '), ('6325', 'INV_DUP', '', 'INV', 'DUP', '21964572', '27', '', '', '', '', '', '', '', '', '', 'We provide evidence that the DUP-TRP/INV-DUP structures are mediated by inverted repeats that can be separated by >300 kb, a genomic architecture that apparently leads to susceptibility to such complex rearrangements. '), ('6326', 'SSX1_SS18', '', 'SSX1', 'SS18', '21355957', '27', 'pericardial effusion', '', '', '', '', '', '', 'KB', '', 'Based on the histopathological and immunohistochemical findings and reverse transcription polymerase chain reaction detection of SS18-SSX1 fusion transcripts, a monophasic fibrous type synovial sarcoma was diagnosed. '), ('6327', 'TEL_AML1', '', 'TEL', 'AML1', '18521927', '27', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'TEL/AML1 molecular fusion transcript was found in only 1 of 44 (2.2%) tested patients.     ///    \"They are almost invariably characterized by BCP phenotype, and are often TEL/AML1 negative. \"'), ('6328', 'TRMT11_GRIK2', '', 'TRMT11', 'GRIK2', '25238935', '27', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'The analyses indicated that most patients [69 (91%) of 76] positive for any of these fusion transcripts (TRMT11-GRIK2, SLC45A2-AMACR, MTOR-TP53BP1, LRRC59-FLJ60017, TMEM135-CCDC67, KDM4-AC011523.2, MAN2A1-FER, and CCNH-C5orf30) experienced PCa recurrence, metastases, and/or PCa-specific death after radical prostatectomy. '), ('6329', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '8630430', '27', '', '', '', '', '', '', '', '', '', 'Novel CBFB-MYH11 fusion transcripts or reverse transcription-polymerase chain reaction artifacts?. '), ('6330', 'CBF_AML1', 't(8;16)  / ', 'CBF', 'AML1', '11742995', '27', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The AML1-CBF beta transcription factor complex is the most frequent target of specific chromosome translocations in human leukemia. '), ('6331', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '18945709', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR or PAX7-FKHR fusion transcripts or FKHR breaks were identified in 5 cases confirming a diagnosis of alveolar rhabdomyosarcoma. '), ('6332', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '18945709', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'PAX3-FKHR or PAX7-FKHR fusion transcripts or FKHR breaks were identified in 5 cases confirming a diagnosis of alveolar rhabdomyosarcoma. '), ('6333', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '17508004', '27', '', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease.. '), ('6334', 'SYT_SSX', '', 'SYT', 'SSX', '22232717', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Detection of SYT/SSX fusion transcript confirmed the diagnosis of synovial sarcoma. '), ('6335', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '9632796', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This provides the first evidence that chromosomal translocation results in altered target gene specificity of PAX3-FKHR and suggests a transcriptional target that may play a significant role in oncogenic activity and rhabdomyosarcoma development..     ///    \"Previously, tumor-specific PAX3-FKHR has been shown to bind to DNA sequences normally recognized by wild-type PAX3 and to exhibit relatively enhanced transcriptional activity. \"    ///    The DNA binding sites used to demonstrate that PAX3-FKHR is a more potent transcriptional activator than PAX3 have included recognition sequences for the paired domain of PAX3.     ///    \"Tumor-specific PAX3-FKHR transcription factor, but not PAX3, activates the platelet-derived growth factor alpha receptor.. \"    ///    \"In this report, we demonstrate the ability of PAX3-FKHR to activate the product of a growth control gene, platelet-derived growth factor alpha receptor (PDGFalphaR), by recognizing a paired-type homeodomain binding site located in the PDGFalphaR promoter. \"'), ('6336', 'ETO_AML1', '', 'ETO', 'AML1', '12842988', '27', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' To evaluate the prognostic significance of quantitative PML-RARA, AML1-ETO, and CBFB-MYH11 fusion transcript expression, real-time polymerase chain reaction was used to analyze bone marrow samples of 349 such patients at diagnosis and 522 samples of 142 patients also during therapy (total analyses, n = 859. '), ('6337', 'TRP_INV', '', 'TRP', 'INV', '25749076', '27', 'Pelizaeus-Merzbacher disease', '', '', '', '', '', '', '', '', 'We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a DUP-TRP/INV-DUP rearrangement product.     ///    An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals.     ///    \"Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080). \"'), ('6338', 'BCR_ABL1', '', 'BCR', 'ABL1', '17957805', '27', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The success of the tyrosine kinase inhibitor (TKI), imatinib, as the currently recommended first-line treatment of early chronic phase CML has both fueled the need for timely and reproducible molecular testing of the BCR-ABL1 fusion transcript in diagnosis and monitoring as well as necessitated the detection of kinase domain mutations that confer resistance to this agent. '), ('6339', 'SYT_SSX', '', 'SYT', 'SSX', '19363442', '27', 'cushing syndrome', '', '', '', '', '', '', '', '', 'None of the tumors was positive for Ewing sarcoma-primitive neuroectodermal tumors, desmoplastic small round cell tumor, and SYT-SSX fusion transcript. '), ('6340', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '17492759', '27', 'MALT Lymphoma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'FISH analysis for MALT1 gene alteration was performed for ocular and nodal MZBCL and RT-PCR for the detection of API2-MALT1 transcripts was performed for pulmonary MZBCL. '), ('6341', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '23814486', '27', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'We have shown that the proapoptotic BH3-only family member Noxa is upregulated by the PAX3-FOXO1 fusion transcription factor in a p53-independent manner.     ///    We therefore demonstrate that PAX3-FOXO1 up-regulation of Noxa represents an unanticipated aspect of ARMS tumor biology that creates a therapeutic window to allow induction of apoptosis in ARMS cells.     ///    PAX3-FOXO1 induces up-regulation of Noxa sensitizing alveolar rhabdomyosarcoma cells to apoptosis.. '), ('6342', 'YPEL5_PPP1CB', '', 'YPEL5', 'PPP1CB', '26605151', '27', 'chronic lymphoblastic leukemia;chronic myeloid leukemia;hematologic malignancy;hepatitis', '', '', '', '', '', '', '', '', 'The YPEL5-PPP1CB fusion transcript is detected in different hematological malignancies and in normal samples..     ///    \"Here we show that the YPEL5-PPP1CB fusion is not specific for CLL but is also detected in other hematological malignancies such as chronic myeloid leukemia, monoclonal B cell lymphocytosis or acute leukemia and also in normal samples. \"    ///    \"As such, it is unlikely that the YPEL5-PPP1CB fusion is a good drug target in CLL or a suitable target to monitor disease. \"'), ('6343', 'RET_PTC3', '', 'RET', 'PTC3', '10597232', '27', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The RET/PTC3 rearrangement is formed by fusion of the ELE1 and RET genes, and is highly prevalent in radiation-induced post-Chernobyl papillary thyroid carcinomas.     ///    \"Such a structure would facilitate formation of RET/PTC3 rearrangements because a single radiation track could produce concerted breaks in both genes, leading to inversion due to reciprocal exchange via end-joining.. \"    ///    We characterized the breakpoints in the ELE1 and RET genes in 12 post-Chernobyl pediatric papillary carcinomas with known RET/PTC3 rearrangement. '), ('6344', 'NFIB_MYB', '', 'NFIB', 'MYB', '26969893', '27', 'cylindroma\r\r', '', '', '', '', '', '', 'KB', '', 'We have previously shown that sporadic cylindromas express either MYB-NFIB fusion transcripts or show evidence of MYB activation in the absence of such fusions.     ///    \"Strikingly, none of the inherited CYLD-defective (n = 23) tumours expressed MYB-NFIB fusion transcripts. \"'), ('6345', 'BCL2_IGH', '', 'BCL2', 'IGH', '12701113', '27', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Among 41 NHL patients examined, bcl-2/IgH translocations were evident in LN biopsies and marrow from each of 10 follicular lymphoma patients, but not in any samples from 31 newly diagnosed diffuse lymphoma patients. '), ('6346', 'EVI1_AML1', '', 'EVI1', 'AML1', '24608072', '27', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', '', '', ' We herein present a case of pediatric therapy-related myelodysplastic syndrome (t-MDS) with complex karyotype who was treated with azacitidine (AZA) for AML1-EVI1 fusion transcript as minimal residual disease after allogeneic hematopoietic stem cell transplantation (HSCT).     ///    \"After 9 cycles of AZA, the AML1-EVI1 fusion transcript disappeared, and there was no manifestation of graft versus host disease during AZA treatment. \"'), ('6347', 'CALM_AF10', '', 'CALM', 'AF10', '17597474', '27', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'A novel AF10-CALM fusion transcript in gamma/delta-T cell type lymphoblastic lymphoma.. '), ('6348', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '10072425', '27', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The C-terminal SSX domain present in SYT-SSX translocation protein contributes a transcriptional repressor domain to the protein.     ///    Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus..     ///    \"We demonstrate that the human homologue of the SNF2/Brahama protein BRM co-localizes with SYT and SYT-SSX in nuclear speckles, and also interacts with SYT and SYT-SSX proteins in vitro. \"'), ('6349', 'FLI_EWS', '', 'FLI', 'EWS', '22484982', '27', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This diagnosis was further supported by the cytogenic and reverse transcriptase-polymerase chain reaction findings of EWS/FLI-1 fusion transcripts. '), ('6350', 'RELA_C11orf95', '', 'RELA', 'C11orf95', '25388523', '27', 'ependymoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'We here describe a case of a sarcoma developing in a patient previously treated with chemotherapy and radiation whose original ependymoma and recurrent sarcoma were both shown to carry the type 1 C11orf95-RELA fusion transcript indicating a monoclonal origin for both tumors.     ///    C11orf95-RELA fusion present in a primary supratentorial ependymoma and recurrent sarcoma.. '), ('6351', 'BCR_ABL1', '', 'BCR', 'ABL1', '25976962', '27', 'leukemia;polycythemia vera\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this review, we discuss the role and caveats of BCR-ABL1 fusion transcript evaluation in CML diagnosis and monitoring, as well as ABL1 kinase mutation testing in the setting of tyrosine kinase inhibitor resistance. '), ('6352', 'HMGA2_FHIT', '', 'HMGA2', 'FHIT', '21394649', '26', 'pleomorphic adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The TCEA1-PLAG1, HMGA2-FHIT, and HMGA2-NFIB fusion transcripts were not detected. '), ('6353', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '16049513', '26', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We studied 52 ALCL for NPM-ALK expression by RT-PCR: 47/52 biopsies were positive. '), ('6354', 'KIF5B_RET', '', 'KIF5B', 'RET', '24759083', '26', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we report the application of CRISPR/Cas technology to successfully generate several types of chromosomal rearrangements implicated as driver events in lung cancer, including the CD74-ROS1 translocation event and the EML4-ALK and KIF5B-RET inversion events.    ///    \"Here we report the application of CRISPR/Cas technology to successfully generate several types of chromosomal rearrangements implicated as driver events in lung cancer, including the CD74-ROS1 translocation event and the EML4-ALK and KIF5B-RET inversion events. \"'), ('6355', 'NFIB_HMGA2', '', 'NFIB', 'HMGA2', '21394649', '26', 'pleomorphic adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The TCEA1-PLAG1, HMGA2-FHIT, and HMGA2-NFIB fusion transcripts were not detected. '), ('6356', 'CD74_ROS1', '', 'CD74', 'ROS1', '24759083', '26', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we report the application of CRISPR/Cas technology to successfully generate several types of chromosomal rearrangements implicated as driver events in lung cancer, including the CD74-ROS1 translocation event and the EML4-ALK and KIF5B-RET inversion events.    ///    \"Here we report the application of CRISPR/Cas technology to successfully generate several types of chromosomal rearrangements implicated as driver events in lung cancer, including the CD74-ROS1 translocation event and the EML4-ALK and KIF5B-RET inversion events. \"');
INSERT INTO `ChimerPub_dump` VALUES ('6357', 'MLL_ACTN4', '', 'MLL', 'ACTN4', '19144982', '26', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', 'Seq', 'In addition, rare MLL fusion genes were found: 2 MLL-TET1 cases, not previously reported in ALL, 1 MLL-AF9, 1 MLL-PTD, a novel MLL-ACTN4, and an MLL-11q23 fusion. '), ('6358', 'ETO_AML1', 't(8;21)(q22;q22) / ', 'ETO', 'AML1', '18511808', '26', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The alteration of AML1 target gene expression due to the presence of AML1-ETO is related to the development of leukemia.     ///    \"Here, using a 25-bp random double-stranded oligonucleotide library and a polymerase chain reaction (PCR)-based DNA-binding site screen, we show that compared with native AML1, AML1-ETO fusion proteins preferentially bind to DNA sequences with duplicated AML1 consensus sites. \"    ///    \"Since AML1 is a well-defined DNA-binding protein, AML1-ETO fusion proteins have been recognized as DNA-binding proteins interacting with the same consensus DNA-binding site as AML1. \"    ///    These results suggest that AML1-ETO fusion proteins have a selective preference for certain AML1 target genes that contain multimerized AML1 consensus sites in their regulatory elements. '), ('6359', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '9517514', '26', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Case two had a typical anaplastic large cell lymphoma (ALCL) morphology, with a suboptimal BM biopsy, but abnormal circulating cells in the PB showing the presence of the NPM/ALK fusion product demonstrated by RT-PCR. '), ('6360', 'RAG2_KRAS', '', 'RAG2', 'KRAS', '23821038', '26', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'cdh15:KRAS(G12D) and rag2:KRAS(G12D) fish developed tumors that displayed an inability to complete muscle differentiation as determined by histological appearance and gene expression analyses.     ///    mylz2:KRAS(G12D) fish showed significantly improved survival compared with cdh15:KRAS(G12D) and rag2:KRAS(G12D) fish. '), ('6361', 'TEL_AML1', '', 'TEL', 'AML1', '20155409', '26', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'MSC from all ten ALL patients analyzed presented the chromosomal translocations that had been detected in leukemia cells (TEL-AML1, E2A-PBX1, or MLL rearrangement). '), ('6362', 'SMED_6476_IA1', '', 'SMED_6476', 'IA1', '2069423', '26', '', '', '', '', '', '', '', '', '', 'The induction of cytochrome P-450-IA1 in juvenile fish by creosote-contaminated sediment..     ///    An average 50-fold induction in the cytochrome P-450-IA1 was found in the liver in the absence of any histopathological lesions. '), ('6363', 'EVI1_ETV6', '', 'EVI1', 'ETV6', '11173830', '26', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'ETV6/RUNX1 (AML1), RUNX1/CBFA2T1 (ETO), ETV6/EVI1, RUNX1/EVI1, ETV6/ABL, BCR/ABL). '), ('6364', 'CDKN2B_CDKN2A', 't(11;14)(q13;q32) / ', 'CDKN2B', 'CDKN2A', '16258956', '26', 'mantle cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'In addition, alterations of other cell-cycle-regulating signal pathways (CDKN2B/CDKN2A-CCND1 and ARF-MDM2-TP53) are frequently observed. '), ('6365', 'TEL_AML1', '', 'TEL', 'AML1', '17560648', '26', '', '', '', '', '', '', '', '', '', 'Association of PIM gene translocation and TEL/AML1 rearrangement.. '), ('6366', 'EML4_ALK', '', 'EML4', 'ALK', '25247338', '26', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The incredible story of ALK rearranged tumors, with the rapid Food and Drug Administration approval of Crizotinib after only 4 years from the discovery of EML4-ALK translocation in NSCLC, has profoundly influenced the concept of drug development in NSCLC, paving the way to a novel series of molecularly selected studies with specific inhibitors. '), ('6367', 'MAR_ECO', '', 'MAR', 'ECO', '24298949', '26', '', '', '', '', '', '', '', '', '', 'MAR-ECO and CMarZ, supported by the Census of Marine Life programme) have quantitatively strengthened distribution patterns previously described for fishes and have provided new perspectives. '), ('6368', 'LPL_HSL', '', 'LPL', 'HSL', '19561215', '26', '', '', '', '', '', '', '', '', '', 'The resulting LPL/HSL ratio was thereby highest in fat fish, which suggests that this group of fish has not reached its peak fat storage capacity. '), ('6369', 'EPA_ARA', '', 'EPA', 'ARA', '19864401', '26', '', '', '', '', '', '', '', '', '', 'Women consuming <101 g fish/wk consumed less EPA and DHA and had markedly elevated median dietary ARA:EPA and ARA:DHA ratios and RBC lipid ARA:EPA + DHA ratios compared with women consuming >or=101 g fish/wk (P < 0.001). '), ('6370', 'RUNX1_CBFA2T1', '', 'RUNX1', 'CBFA2T1', '11173830', '26', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'ETV6/RUNX1 (AML1), RUNX1/CBFA2T1 (ETO), ETV6/EVI1, RUNX1/EVI1, ETV6/ABL, BCR/ABL). '), ('6371', 'diaphorase_NADPH', '', 'diaphorase', 'NADPH', '17802743', '26', '', '', '', '', '', '', '', '', '', ' Traditional neuromorphological and NADPH-diaphorase methods were used to study the topography, morphology and neurochemical organization properties of spinal cord in teleosts fishes. '), ('6372', 'MCT_LCT', '', 'MCT', 'LCT', '10422083', '26', '', '', '', '', '', '', '', '', '', ' The in vitro effect of a fish oil-derived lipid emulsion (omega-3) on the superoxide anion production during the respiratory burst (RB) of human neutrophils was compared to a LCT lipid (Intralipid), and an LCT/MCT emulsion (Lipofundin MCT).     ///    LCT/MCT increased the RB after E. '), ('6373', 'C13_C10', '', 'C13', 'C10', '10705545', '26', '', '', '', '', '', '', '', '', '', 'A comparative study of polychlorinated alkanes as standards for the determination of C10-C13 polychlorinated paraffines in fish samples.. '), ('6374', 'ZPB_ZP1', '', 'ZPB', 'ZP1', '12968942', '26', '', '', '', '', '', '', '', '', '', 'Analysis of fish ZP1/ZPB homologous genes--evidence for both genome duplication and species-specific amplification models of evolution.. '), ('6375', 'RIF_MTB', '', 'RIF', 'MTB', '23134697', '26', 'MDR tuberculosis', '', '', '', '', '', '', '', '', 'Sensitivity of the Xpert MTB/RIF assay was assessed with the Pearson ?(2) or Fishers exact test.     ///    Assessment of the Xpert MTB/RIF assay for diagnosis of tuberculosis with gastric lavage aspirates in children in sub-Saharan Africa: a prospective descriptive study..     ///    Analyses of GLA samples with the Xpert MTB/RIF assay is a sensitive and specific method for rapid diagnosis of pulmonary tuberculosis in children who cannot produce sputum.     ///    The sensitivity and specificity of the Xpert MTB/RIF assay were similar: sensitivity was 68??8% (95% CI 53??6-80??9) for GLA versus 90??0% (54??1-99??5.     ///    The Xpert MTB/RIF assay detected rifampicin resistance in three GLA samples: two confirmed as MDR tuberculosis and one false positive.     ///    \"We did a prospective study to assess the sensitivity and specificity of the Xpert MTB/RIF assay with GLA samples for the detection of pulmonary tuberculosis and MDR tuberculosis in new paediatric inpatient admissions at the University Teaching Hospital, Lusaka, Zambia. \"    ///    \"GLA and sputum were analysed by standard smear-microscopy, mycobacterial growth indicator tube (MGIT) culture, MGIT drug-susceptibility testing, and the Xpert MTB/RIF assay. \"    ///    The Xpert MTB/RIF assay is useful for rapid diagnosis of childhood tuberculosis with sputum and nasopharyngeal samples.     ///    \"The Xpert MTB/RIF assay detected an extra 28 tuberculosis cases compared with smear microscopy and was significantly more sensitive than smear microscopy for both sputum (90??0% [54??1-99??5] vs 30??0% [8??1-64??6], p=0??01) and GLA (68??8% [53??6-80??9] vs 25??0% [14??1-40??0], p<0??0001). \"'), ('6376', 'ARB_ACE', '', 'ARB', 'ACE', '25534901', '26', 'systolic heart failure', '', '', '', '', '', '', '', '', 'Mnemonic upgrading from a Fairly Fast SAAB Convertible to a Fairly Fast SA(2)A(2)B (Fish oils, Fibrate, Statin, Antiplatelets (Aspirin+Other), ACE/ARB, Aldosterone Antagonist, Beta-blocker) may help to ensure patients receive best practice evidence-based pharmacotherapies for the secondary prevention of cardiovascular disease.. '), ('6377', 'EML4_ALK', '', 'EML4', 'ALK', '24138719', '26', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EGFR activating mutations, EML4/ALK translocation, ROS1 rearrangements) in a selected population of patients affected by non small cell lung cancer (NSCLC) translated into effective treatments for this small but well defined fraction of patients, driven by the use of predictive biomarkers of efficacy for targeted agents. '), ('6378', 'LMC_GSE', '', 'LMC', 'GSE', '19256555', '26', '', '', '', '', '', '', '', '', '', 'therefore, biomarkers of estrogenic exposure together with cholesterol titers were assessed in both plasma and tissue samples taken from fish fed with different doses of LMC-GSE for 4 weeks.     ///    \"In addition, it was found that both plasma E2 levels and hepatic total cholesterol were not affected by LMC-GSE dietary regimens.. \"    ///    Dietary LMC-GSE (71 or 35 mg/g diet) did not affect vitellogenin (VTG) synthesis.     ///    \"For that reason, it was considered of interest to investigate the beneficial or detrimental effects induced by low monomer content grape seed extract (LMC-GSE) in a teleost experimental model, the juvenile goldfish (Carassius auratus). \"'), ('6379', 'FOXP3_CD4', '', 'FOXP3', 'CD4', '25097153', '26', 'chronic obstructive pulmonary disease', '', '', '', '', '', 'Transcription_Factor', '', '', 'Depletion of Tregs increased SEB-induced activation of Foxp3(-)CD45RO(+) CD4(+) T-cells in samples from 15/15 healthy controls (demonstrating Treg-mediated suppression) and 9/14 COPD patients (Fisher\'s test, p=0.017).     ///    Treg-mediated suppression of memory non-Treg (Foxp3(-)CD45RO(+)) CD4(+) T-cell activation was analysed by comparing PBMC responses to staphylococcal enterotoxin-B (SEB) pre- and post-depletion of Tregs (CD25(+)CD127(low)CD4(+) T-cells) by fluorescence-activated cell sorting (FACS). '), ('6380', 'diaphorase_NADPH', '', 'diaphorase', 'NADPH', '10682268', '26', '', '', '', '', '', '', '', '', '', ' The distribution of NADPH-diaphorase activity was studied in the cichlid fish Tilapia mariae, during the first developmental stages by means of the tetrazolium salt technique.     ///    Developmental pattern of NADPH-diaphorase activity in the peripheral nervous system of the cichlid fish Tilapia mariae..     ///    The present results indicate an early activity of NADPH-diaphorase during the development of the peripheral nervous system of Tilapia and reveal a gradual maturation of NADPH-diaphorase positive structures.. '), ('6381', 'NKG2_CD94', '', 'NKG2', 'CD94', '12802013', '26', '', '', '', '', '', '', '', '', '', 'Thus, the CD94/NKG2 subfamily of NK cell receptors must have arisen before the divergence of fish and tetrapods and may have retained its function (possibly monitoring the expression of MHC class I molecules) for >400 million years.. '), ('6382', 'IL9R_IL9', '', 'IL9R', 'IL9', '21664274', '26', '', '', '', '', '', '', '', '', '', 'In recent years, aided by the availability of sequenced fish genomes and expressed sequence tag databases, five of the six mammalian ?C cytokines and their cognate receptors have been discovered in fish, with only the IL-9/IL-9R homologues apparently absent. '), ('6383', 'EGF_CFC', '', 'EGF', 'CFC', '12052855', '26', '', '', '', '', '', '', '', '', '', 'Although recent findings in frog and fish embryos have suggested that EGF-CFC proteins function as coreceptors for Nodal, studies in cell culture have implicated Cripto as a growth factor-like signaling molecule.     ///     The EGF-CFC gene Cripto encodes an extracellular protein that has been implicated in the signaling pathway for the transforming growth factor beta (TGF beta) ligand Nodal.     ///    \"Furthermore, we found that the ability of Cripto to bind to Nodal and mediate Nodal signaling requires the addition of an O-linked fucose monosaccharide to a conserved site within EGF-CFC proteins. \"    ///    Here we reconcile these apparently disparate models of Cripto function by using a mammalian cell culture assay to investigate the signaling activities of Nodal and EGF-CFC proteins. '), ('6384', 'ECD_ACVR2B', '', 'ECD', 'ACVR2B', '22911153', '26', '', '', 'Kinase', '', '', '', '', '', '', 'Likewise, fish larvae immersed in Pichia pastoris culture supernatant, containing goldfish Acvr2b-ECD, showed enhanced larval growth.     ///    \"In addition, the study shows that bioactive fish Acvr2b-ECD can be produced from P. \"    ///    The direct inhibitory effect of Acvr2b-ECD on Mstn activity was tested in vitro.     ///    It has been previously shown that WT mice injected with ACVR2B extracellular domain (ACVR2B-ECD) had higher muscle mass. '), ('6385', 'HDL3_HDL2', '', 'HDL3', 'HDL2', '2297349', '26', '', '', '', '', '', '', '', '', '', 'Thus fish oil produced three potentially beneficial changes: significant decreases in VLDL concentration and in thromboxane production and an increase in the HDL2/HDL3 ratio.     ///    \"However, the apo A-I/A-II ratio rose by 5% (p less than 0.05), and the HDL2/HDL3 protein ratio increased by 28% with the fish-oil diet (p less than 0.005). \"'), ('6386', 'CDH15_KRAS', '', 'CDH15', 'KRAS', '23821038', '26', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'cdh15:KRAS(G12D) and rag2:KRAS(G12D) fish developed tumors that displayed an inability to complete muscle differentiation as determined by histological appearance and gene expression analyses.     ///    mylz2:KRAS(G12D) fish showed significantly improved survival compared with cdh15:KRAS(G12D) and rag2:KRAS(G12D) fish. '), ('6387', 'EGF_CFC', '', 'EGF', 'CFC', '11062482', '26', '', '', '', '', '', '', '', '', '', 'Our findings indicate that the essential role of EGF-CFC genes and Nodal signalling in left-right axis formation is conserved from fish to humans.     ///    \"The EGF-CFC genes, mouse Cfc1 (encoding the Cryptic protein. \"    ///    Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects..     ///    \"EGF-CFC proteins act as co-factors for Nodal-related signals, which have also been implicated in L-R axis development. \"'), ('6388', 'HDL3_HDL2', '', 'HDL3', 'HDL2', '11194527', '26', '', '', '', '', '', '', '', '', '', 'Higher plasma concentrations of sex hormone-binding globulin (SHBG), HDL2 cholesterol and HDL2:HDL3 cholesterol ratio were found with the lean fish diet compared with the nonfish diet. '), ('6389', 'MLL_ENL', 'p22;q23 / ', 'MLL', 'ENL', '16230385', '26', '', 'PCR', '', '', '', '', '', '', '', 'Continuous MLL-ENL expression is necessary to establish a \"Hox Code\" and maintain immortalization of hematopoietic progenitor cells..     ///    \"Thus, MLL-ENL is required to initiate and maintain immortalization of myeloid progenitors and may contribute to leukemogenesis by aberrantly sustaining the expression of a \"\"Hox code\"\" consisting of Hoxa4 to Hoxa11.. \"    ///    \"By comparing these changes with Hox gene expression in cells induced to differentiate with granulocyte colony-stimulating factor, we show for the first time that reduced Hox gene expression is specific to loss of MLL-ENL and is not a consequence of differentiation. \"    ///    To investigate the molecular mechanism of immortalization by MLL-ENL we established a Tet-regulatable system of MLL-ENL expression in primary hematopoietic progenitor cells.     ///    This analysis showed that loss of MLL-ENL was accompanied by a reduction in the expression of multiple Hoxa genes.     ///    These cells either terminally differentiate or die when MLL-ENL expression is turned off with doxycycline.     ///    \"Immortalized myeloid cell lines were generated, which are dependent on continued MLL-ENL expression for their survival and proliferation. \"'), ('6390', 'MMSET_FGFR3', '', 'MMSET', 'FGFR3', '16829212', '26', 'multiple myeloma;plasma cell tumor', '', 'Kinase', '', '', '', '', '', '', 'The five partner loci include 11q13, 6p21, 4p16, 16q23, and 20q12, with corresponding dysregulation of CYCLIN D1, CYCLIN D3, FGFR3/MMSET, c-MAF, and MAFB, respectively, by strong enhancers in the IgH locus. '), ('6391', 'CL3_CL1', '', 'CL3', 'CL1', '10092422', '26', '', '', '', '', '', '', '', '', '', 'In contrast, PCB homologues of light (Cl1-Cl3) or moderate (Cl4-Cl6) chlorination were unrelated to fish consumption.     ///    \"While PCB homologues of light (Cl1-Cl3) or moderate (Cl4-Cl6) chlorination did not correlate with their breast milk homologues, the most persistent and heavily chlorinated PCB homologues (Cl7-Cl9) were significantly and positively correlated with breast milk levels. \"'), ('6392', 'calmodulin_SOX9', '', 'calmodulin', 'SOX9', '25233956', '26', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Evaluation of the calmodulin-SOX9 interaction by \"magnetic fishing\" coupled to mass spectrometry.. '), ('6393', 'MCTS_LCT', '', 'MCTS', 'LCT', '22282868', '26', 'gastrointestinal cancer\r\r', '', '', '', '', '', '', '', '', 'Twenty-five patients from a randomized, double-blind clinical trial (ID: NCT01218841) were randomly included to evaluate leukocyte death after 3 days of preoperative infusion (0.2 g fat/kg/d) of an LE composed equally of medium/long-chain triglycerides and soybean oil (MCTs/LCTs) or pure fish oil (FO).     ///    There were no differences in lymphocyte or neutrophil death when MCT/LCT and FO treatments were compared during either preoperative or postoperative periods.     ///    \"In patients with gastrointestinal cancer, preoperative MCT/LCT infusion was associated with postoperative lymphocyte and neutrophil apoptosis. \"    ///    \"After LE infusion (t1 vs t0), MCTs/LCTs did not influence cell death. \"    ///    \"In the postoperative period, MCT/LCT emulsion increased the proportion of apoptotic neutrophils, and FO emulsion did not change any parameter of apoptosis in the neutrophil population. \"    ///    \"MCT/LCTs altered the expression of 12 of 108 genes related to cell death, with both pro- and antiapoptotic effects. \"    ///    \"At the postoperative period (t2 vs t0), MCTs/LCTs tripled the proportion of apoptotic lymphocytes. \"'), ('6394', 'BCR_ABL1', '', 'BCR', 'ABL1', '9536079', '26', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukaemia (CML) develops when two genes, BCR on chromosome 22 and ABL on chromosome 9, recombine to form a hybrid BCR-ABL gene with leukaemogenic properties. '), ('6395', 'MCT_LCT', '', 'MCT', 'LCT', '18357434', '26', 'nosocomial infections', '', '', '', '', '', '', '', '', 'In unselected critically ill medical patients, fish oil supplementation that increased the n-3/n-6 PUFA ratio to 1:2 did not affect inflammation or clinical outcome, compared to parenteral lipid nutrition with an MCT/LCT emulsion.. '), ('6396', 'TEL_AML1', '', 'TEL', 'AML1', '15368546', '26', 'down syndrome\r\r', '', '', '', '', '', '', '', '', 'DS patients were less likely to have either favorable (hyperdiploidy, triple trisomy of chromosomes 4, 10, and 17, TEL-AML1 rearrangement) or unfavorable (T-cell ALL, hypodiploidy, adverse translocations) biologic features. '), ('6397', 'CD8_CD4', '', 'CD8', 'CD4', '1868870', '26', '', '', '', '', '', '', '', '', '', 'Increased CD4/CD8 ratio and elevated IgE were noted, which suggests immunological behavior in Fisher\'s syndrome similar to that in Guillain-Barr? syndrome.. '), ('6398', 'EML4_ALK', '', 'EML4', 'ALK', '24759083', '26', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here we report the application of CRISPR/Cas technology to successfully generate several types of chromosomal rearrangements implicated as driver events in lung cancer, including the CD74-ROS1 translocation event and the EML4-ALK and KIF5B-RET inversion events. '), ('6399', 'PRKY_PRKX', '', 'PRKY', 'PRKX', '24088663', '26', 'chondrodysplasia punctata', 'PCR', 'Kinase', '', '', '', '', '', '', 'Subsequently, a long PCR product was obtained with an X-specific and a Y-specific primers that were designed on the assumption of the presence of a Yp inversion that permits the alignment of PRKX and PRKY in the same direction, and the translocation fusion point was determined to reside within a 246 bp X-Y homologous segment at the \"hot spot A\" in the 5\' region of PRKX/PRKY, by sequential direct sequencing for the long PCR product.     ///    \"These results argue not only for the presence of rare 45,X-TDSD with Xp;Yp translocation, but also for a critical role of a common paracentric Yp inversion in the occurrence of PRKX/PRKY-mediated unbalanced Xp;Yp translocation. \"    ///    \"Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.. \"'), ('6400', 'SBP_DBP', '', 'SBP', 'DBP', '23210033', '26', '', '', '', '', '', '', '', '', '', 'In each subgroups of Fisher grade and different dose, SBP/DBP also decreased after the use of nicardipine.     ///    \"The blood pressure measurement showed that the mean systolic blood pressure / diastolic blood pressure (SBP/DBP) in continuous injection period (120.9/63.0 mmHg) was significantly lower than pre-injection period (145.6/80.3 mmHg) and bolus injection period (134.2/71.3 mmHg), and these were statistically significant (p < 0.001). \"'), ('6401', 'CA4_CA1', '', 'CA4', 'CA1', '10408600', '26', '', '', '', '', '', '', '', '', '', 'Post-hoc testing with Fisher\'s PLSD showed significant reductions (74-94%) of [3H]ryanodine binding in the subiculum, and CA1-CA4 regions of the late isocortical stage (V-VI) cases compared to the early entorhinal stage I-II cases. '), ('6402', 'MUM1_IRF4', 't(8;14)(q24;q32) / ', 'MUM1', 'IRF4', '26173642', '26', 'lymphoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Remarkably, all six primary Burkitt lymphomas with a PCBP1 mutation expressed MUM1/IRF4, which is otherwise detected in around 20-40% of Burkitt lymphomas. '), ('6403', 'CDKN2A_CCND1', 't(11;14)(q13;q32) / ', 'CDKN2A', 'CCND1', '16258956', '26', 'mantle cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'In addition, alterations of other cell-cycle-regulating signal pathways (CDKN2B/CDKN2A-CCND1 and ARF-MDM2-TP53) are frequently observed. '), ('6404', 'S100B_COL6A1', '', 'S100B', 'COL6A1', '1463008', '26', 'fallot tetralogy', '', '', '', '', '', '', '', '', 'The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. '), ('6405', 'diaphorase_NADPH', '', 'diaphorase', 'NADPH', '10559552', '26', '', '', '', '', '', '', '', '', '', 'Development of NADPH-diaphorase activity in the central nervous system of the cichlid fish, Tilapia mariae..     ///    \"Several trigeminal motor neurons showed strong NADPH-diaphorase activity, whereas the optic tectum and cerebellum were completely free of enzymatic activity. \"    ///    \"NADPH-diaphorase activity was seen in the neuropil area of the telencephalon, the target of olfactory inputs, and in the sensory dorso-lateral area of the spinal cord.. \"'), ('6406', 'HMCN2_FBLN1', '', 'HMCN2', 'FBLN1', '22771579', '26', 'fraser syndrome', '', '', '', '', '', '', '', '', 'While antisense morpholino oligonucleotide (MO)-based knockdown of hmcn2 did not yield any discernable defects, hmcn2/fbln1 double knockdown fish displayed blistering in the trunk, pointing to an essential contribution of these proteins from mesodermal sources for proper epidermal-dermal junction formation.     ///    \"In contrast, and unlike hmcn1 mutants, epidermal-dermal junctions in the fin folds of hmcn2/fbln1 double knockdown fish were only moderately affected. \"'), ('6407', 'ZPB_ZP1', '', 'ZPB', 'ZP1', '25229478', '26', '', '', '', '', '', '', '', '', '', 'Teleostean fish chorion is a fibrous structure, consisting of protein members of the ZPB/ZP1 and the ZPC/ZP3 families, which are incorporated as tandemly repeating heterodimers inside chorion fibers.     ///    \"Computational analysis of multiple ZPB/ZP1 proteins from several teleostean species, reveals two potential \"\"aggregation-prone\"\" sequence segments, forming a specific polymerization interface (AG interface). \"    ///    \"This, most probably implies that the AG interface of ZPB/ZP1 proteins plays an important role for the formation of the repeating ZPB-ZPC heterodimers, which constitute teleostean chorion fibrils.. \"'), ('6408', 'NST_IDC', '', 'NST', 'IDC', '19479727', '26', 'breast cancer;breast carcinoma;ductal carcinoma\r\r', '', '', '', '', '', '', '', '', 'When compared to grade- and ER-matched IDC-NSTs, mixed MPCs significantly more frequently harboured amplification of multiple regions on 8q (adjusted Fisher\'s p value < 0.05).     ///    \"Our results suggest that micropapillary differentiation in breast cancer may identify a subgroup of more aggressive ER-positive breast carcinomas, even in those featuring a mixed histology, and that mixed MPCs are more closely related to pure MPCs than to IDC-NSTs.. \"    ///    \"however, this histological type is more frequently found admixed with invasive ductal carcinomas of no special type (IDC-NSTs). \"    ///    \"Furthermore, mixed MPCs displayed higher proliferative rates than grade- and ER-matched IDC-NSTs. \"    ///    \"Using high-resolution microarray comparative genomic hybridization (aCGH), we profiled a series of 10 MPCs of mixed histology and 20 IDC-NSTs matched for grade and oestrogen receptor (ER) status. \"'), ('6409', 'B23_B13', '', 'B23', 'B13', '24495840', '26', '', '', '', '', '', '', '', '', '', 'Learning of novel graphotactic constraints on the position and context of letter distributions was induced by means of a two-phase learning task adapted from Onishi, Chambers, and Fisher (Cognition, 83 (2002) B13-B23). '), ('6410', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23272087', '26', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Notably, knockdown of the ATM gene expression in HPr-1AR cells can promote androgen-induced TMPRSS2: ERG rearrangement, a prostate-specific chromosome translocation frequently found in prostate cancer cells. '), ('6411', 'EBP_C/EBP', '', 'EBP', 'C/EBP', '11755676', '26', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' The findings of this study represent the first report, to the authors\' knowledge, of CCAAT/enhancer binding protein (C/EBP) cDNA sequence in a fish species. '), ('6412', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '11173830', '26', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'ETV6/RUNX1 (AML1), RUNX1/CBFA2T1 (ETO), ETV6/EVI1, RUNX1/EVI1, ETV6/ABL, BCR/ABL). '), ('6413', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '21484932', '26', 'mucoepidermoid carcinoma;myoepithelial tumor\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '3\'RACE on an EWSR1 rearranged HCCC identified an EWSR1-ATF1 fusion, which was confirmed by RT-PCR.     ///    The presence of EWSR1-ATF1 fusion in most HCCCs reliably separates these tumors from its histological mimics.     ///    EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland.. '), ('6414', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '11173830', '26', 'leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'ETV6/PDGFRB, ETV6/JAK2, ETV6/ABL etc.), but also networks connecting several genes with more than one fusion partner (e.g. '), ('6415', 'IL1RA_IL1B', '', 'IL1RA', 'IL1B', '16437718', '26', '', '', '', '', '', '', '', '', '', 'IBD tissues, after incubation with elemental diet modified in its fatty acid composition with fish oil, show an increase in IL-1ra/IL-1beta cytokine ratio.     ///    \"Incubation of CD-affected tissue with EF (1:20, 1:10, and 1:5) modestly and non-significantly increased IL-1ra/IL-1beta ratio as compared with medium control (CD 39.1+/-16.1. \"    ///    \"26.5+/-7.8, 47.1+/-16.8 vs control 13.0+/-2.2), but incubation of UC-affected tissues increased IL-1ra/IL-1beta ratio significantly in all three dilutions (UC 69.1+/-32.2, P<0.05. \"    ///    Cytokine ratio of IL-1ra/IL-1beta (low ratio indicative of inflammation) and production of those cytokines as a percentage of medium control were assayed in the culture supernatant.     ///    \"Incubation of non-inflamed non-IBD control tissue did not increase the IL-1ra/IL-1beta ratio in any dilution compared to medium control (69.3+/-47.0, 54.1+/-30.6, 79.4+/-34.0 vs control 76.1+/-37.3). \"'), ('6416', 'HB3_HB1', '', 'HB3', 'HB1', '25252741', '26', '', '', '', '', '', '', '', '', '', 'Bigels prepared with mixture of sodium alginate and fish oil (SB1 and SB2), and the bigels prepared with the mixture of hydroxypropyl methylcellulose and fish oil (HB1-HB3) showed high cumulative permeation and drug flux compared to hydrogels. '), ('6417', 'KISS1_GPR54', '', 'KISS1', 'GPR54', '17324425', '26', 'hypogonadotropic hypogonadism', '', '', '', '', '', '', '', '', 'While characterization of its role in non-mammalian species remains largely unexplored, the presence of GPR54 in GnRH neurons and the changes in its expression during pubertal development, reported recently in fish species, are suggestive of a conserved function of the KiSS-1/GPR54 system in the control of reproduction during evolution..     ///    \"In sum, compelling experimental evidence, obtained in mammals, has recently defined the pivotal role of the KiSS-1/GPR54 system in the control of essential aspects of female reproduction, from puberty to ovulation. \"'), ('6418', 'MAML2_CRTC3', '', 'MAML2', 'CRTC3', '23035786', '26', 'mucoepidermoid carcinoma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'In the present study, 95 mucoepidermoid carcinomas (paraffin-embedded materials) were analyzed for CRTC1-MAML2 and CRTC3-MAML2 fusions by RT-PCR and for the MAML2 gene split by FISH.     ///    \"CRTC1-MAML2 and CRTC3-MAML2 fusions were detected in 37 and 6 cases, respectively. \"    ///     CRTC1-MAML2 and CRTC3-MAML2 fusions have been associated with favorable clinicopathological features of mucoepidermoid carcinomas. '), ('6419', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '23035786', '26', 'mucoepidermoid carcinoma', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In the present study, 95 mucoepidermoid carcinomas (paraffin-embedded materials) were analyzed for CRTC1-MAML2 and CRTC3-MAML2 fusions by RT-PCR and for the MAML2 gene split by FISH.     ///    Quantitative RT-PCR for the CRTC1-MAML2 transcript was performed in selected cases.     ///    \"The level of CRTC1-MAML2 transcript expression was highly variable, and its clinicopathological impact was unclear. \"    ///     CRTC1-MAML2 and CRTC3-MAML2 fusions have been associated with favorable clinicopathological features of mucoepidermoid carcinomas.     ///    \"CRTC1-MAML2 and CRTC3-MAML2 fusions were detected in 37 and 6 cases, respectively. \"'), ('6420', 'PSA_NCAM', '', 'PSA', 'NCAM', '22527122', '26', '', '', '', '', '', '', '', '', '', 'Paraffin sections from decalcified heads of Poecilia reticulata (microsmatic fish) and Carassius auratus (macrosmatic fish) were processed to immunocytochemically detect ensheathing cell markers used in research on mammals: GFAP, S100, NCAM, PSA-NCAM, vimentin, p75NTR and galectin-1.     ///    \"P75NTR staining is more evident in Poecilia, PSA-NCAM positivity in Carassius. \"'), ('6421', 'diaphorase_NADPH', '', 'diaphorase', 'NADPH', '16139537', '26', '', '', '', '', '', '', '', '', '', 'However, in the large arteries and veins of various species of fishes and amphibians, no anatomical evidence was found for endothelial NOS using both NADPH-diaphorase and eNOS immunohistochemistry. '), ('6422', 'EML4_ALK', '', 'EML4', 'ALK', '24070465', '26', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Elderly patients affected by NSCLC harboring the EML4-ALK translocation could benefit mostly from a treatment with an oral inhibitor of such a rearrangement (crizotinib). '), ('6423', 'SSB_SSA', '', 'SSB', 'SSA', '11875835', '26', 'mixed connective tissue disease;polymyositis/dermatomyositis;progressive systemic sclerosis;Raynaud phenomenon;systemic vasculitis', '', '', '', '', '', '', '', '', 'The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/arthralgia and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144). '), ('6424', 'MCT_LCT', '', 'MCT', 'LCT', '21410033', '26', '', '', '', '', '', '', '', '', '', 'In a prospective, randomised setting the authors compared the short-term hepatic effects of medium-chain triglycerides/short-chain triglycerides (MCT/LCT) physical mixture with a four-component intravenous (i.v.) lipid emulsion (LCT, MCT, Olive-oil and Fish-oil) in patients undergoing elective gastrointestial surgery during the early postoperative period. '), ('6425', 'GREAT_ER', '', 'GREAT', 'ER', '16999128', '26', '', '', '', '', '', '', '', '', '', 'Using the established GREAT-ER hydrological model,we have first predicted the concentrations and then the estrogenic effects on fish, of estrone, estradiol, ethinyl estradiol, and nonylphenol individually throughout an entire river catchment. '), ('6426', 'CL6_CL4', '', 'CL6', 'CL4', '10092422', '26', '', '', '', '', '', '', '', '', '', 'In contrast, PCB homologues of light (Cl1-Cl3) or moderate (Cl4-Cl6) chlorination were unrelated to fish consumption.     ///    \"While PCB homologues of light (Cl1-Cl3) or moderate (Cl4-Cl6) chlorination did not correlate with their breast milk homologues, the most persistent and heavily chlorinated PCB homologues (Cl7-Cl9) were significantly and positively correlated with breast milk levels. \"'), ('6427', 'OSM_LIF', '', 'OSM', 'LIF', '19419770', '26', '', '', '', '', '', '', '', '', '', 'Phylogenetic analysis suggests that the fish CNTF-like and M17 genes may have arisen from ancestral genes that have given rise to mammalian LIF/OSM, and CNTF/CLC/CT-1/CT-2 of the IL-6 family. '), ('6428', 'GLP1_CCK', '', 'GLP1', 'CCK', '26829186', '26', '', '', '', '', '', '', '', '', '', 'Supplementation with a fish protein hydrolysate (Micromesistius poutassou): effects on body weight, body composition, and CCK/GLP-1 secretion..     ///    CCK/GLP-1 levels were measured since they are involved in controlling food intake.     ///    \"and circumference of waist, thighs, and hips) and CCK/GLP-1 blood levels were measured at the beginning of the study and after 45 and 90 days of product use. \"'), ('6429', 'MCT_LCT', '', 'MCT', 'LCT', '22205554', '26', 'liver steatosis', '', '', '', '', '', '', '', '', 'Four patient groups, including systemic inflammatory response syndrome (SIRS) and sepsis patients, were assigned to receive PN employing the MCT/LCT fat infusion or the fish oil-based fat infusion over 7 days.     ///    Sepsis groups who received MCT/LCT revealed higher grades of liver steatosis by ultrasound on days 7 and 10 (P < .05). '), ('6430', 'SS2_SS1', '', 'SS2', 'SS1', '20633132', '26', '', '', '', '', '', '', '', '', '', 'Subsequently, segment duplication would have originated two diverging SST genes in both fish (SS1/SS2) and tetrapods [(SST/cortistatin(CST))]. '), ('6431', 'MAE_FOV', '', 'MAE', 'FOV', '11128135', '26', '', '', '', '', '', '', '', '', '', ' Focused open-vessel microwave-assisted extraction (FOV-MAE), closed-vessel microwave-assisted extraction (CV-MAE), and accelerated solvent extraction (ASE) were used for extraction before determination of organochlorine compounds (polychlorinated biphenyls, DDT, toxaphene, chlordane, hexachlorobenzene, hexachlorocyclohexanes, and dieldrin) in cod liver and fish fillets.     ///    \"For FOV-MAE, the solvent mixture removed water from the sample matrix via azeotropic distillation. \"'), ('6432', 'S100B_PFKL', '', 'S100B', 'PFKL', '1463008', '26', 'fallot tetralogy', '', 'Kinase', '', '', '', '', '', '', 'The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. '), ('6433', 'QKI_MYB', '', 'QKI', 'MYB', '26829751', '26', '', '', '', '', '', '', '', '', '', 'In vitro and in vivo functional studies show that MYB-QKI rearrangements promote tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression and hemizygous loss of the tumor suppressor QKI.     ///    MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism..     ///    We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas. '), ('6434', 'TIP39_PTH2R', '', 'TIP39', 'PTH2R', '16375902', '26', '', 'PCR;RT-PCR', '', '', '', 'Receptor', '', '', '', 'Although the mammalian PTH2R-TIP39 system is involved in nociception and pituitary regulation, the function(s) of this system in fishes is undetermined. '), ('6435', 'APOB_APOA1', '', 'APOB', 'APOA1', '19339404', '26', 'coronary disease;coronary heart disease', '', '', '', '', '', '', '', '', 'The ratios of total cholesterol:HDL cholesterol, LDL cholesterol:HDL cholesterol, and apolipoprotein B:apolipoprotein A-I were lower (P < 0.05) in those who followed the walnut diet compared with those who followed the control and fish diets. '), ('6436', 'CD8_CD4', '', 'CD8', 'CD4', '20473991', '26', 'colon cancer', '', '', '', '', '', '', '', '', 'The median (interquartile range) difference in CD4/CD8 between days 1 and 8 after surgery was + 0.30 (0.06 to 0.79) in patients receiving fish oil and + 0.20 (-0.19 to 0.55) in controls (P = 0.021). '), ('6437', 'SRA1_CMPD1', '', 'SRA1', 'CMPD1', '8570691', '26', 'campomelic dysplasia', '', '', '', '', '', '', '', '', 'Identification of SO X9 as SRA1/CMPD1 and the role of SO X9 mutations in sex reversal and campomelic dysplasia are discussed.. '), ('6438', 'SHP_FXR', '', 'SHP', 'FXR', '19739642', '26', '', '', '', '', '', '', '', '', '', 'In addition, it was found that dietary fish protein affects the farnesoid X receptor/small heterodimer partner-dependent pathway, which is negatively regulated by the decreased reabsorption of bile acid. '), ('6439', 'diaphorase_NADPH', '', 'diaphorase', 'NADPH', '10526017', '26', '', '', '', '', '', '', '', '', '', 'Neuronal and glial cell types revealed by NADPH-diaphorase histochemistry in the retina of a teleost fish, the grass goby (Zosterisessor ophiocephalus, Perciformes, Gobiidae)..     ///    \"NADPH-diaphorase histochemistry was performed on retinal sections and wholemounts to reveal cells that contain nitric oxide synthase and so may be presumed to synthesise nitric oxide, a gaseous intercellular messenger with many roles including vasodilation. \"'), ('6440', 'SDF1_ATPase', '', 'SDF1', 'ATPase', '22362916', '26', 'gastric cancer\r\r', '', '', '', '', '', '', '', '', 'Analysis of the H/K-ATPase/SDF-1 transgenic (SDF-Tg) mice showed that SDF-1 overexpression results in significant gastric epithelial hyperproliferation, mucous neck cell hyperplasia and spontaneous gastric dysplasia (wild-type mice 0/15 (0%) vs SDF-Tg mice 4/14 (28.6%), p=0.042, Fisher exact test) but has minimal effects on inflammation. '), ('6441', 'RUNX1_EVI1', '', 'RUNX1', 'EVI1', '11173830', '26', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'ETV6/RUNX1 (AML1), RUNX1/CBFA2T1 (ETO), ETV6/EVI1, RUNX1/EVI1, ETV6/ABL, BCR/ABL). '), ('6442', 'PCB_PAH', '', 'PCB', 'PAH', '12683439', '26', '', '', '', '', '', '', '', '', '', 'The production of hydrogen peroxide (H2O2) was, however, reduced in the fish held on the PAH and PAH/PCB spiked sediments. '), ('6443', 'PI3K_IRS', '', 'PI3K', 'IRS', '21726560', '26', '', '', '', '', '', '', '', '', '', 'The IRs of fish link to several cellular effector systems, including the ERK and IRS-PI3k-Akt pathways. '), ('6444', 'SOX9_AMH', '', 'SOX9', 'AMH', '23390004', '26', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'We illustrate these differences by comparing key sex genes in fishes versus birds and mammals, with emphasis on DM domain genes and the SOX9-AMH pathway in the testis and the FOXL2-Aromatase pathway in the ovary. '), ('6445', 'S100B_CD18', '', 'S100B', 'CD18', '1463008', '26', 'fallot tetralogy', '', '', '', '', '', '', '', '', 'The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. '), ('6446', 'ND5_ND4', '', 'ND5', 'ND4', '19527790', '26', '', '', '', '', '', '', '', '', '', 'Phylogenetic relationships of catostomid fishes (Actinopterygii: Cypriniformes) based on mitochondrial ND4/ND5 gene sequences.. '), ('6447', 'CCA2_CCA1', '', 'CCA2', 'CCA1', '23480377', '26', '', '', '', '', '', '', '', '', '', 'A canonical correspondence analysis (CCA) yielded a diagram that shows a specific mesohabitat selection of the fish assemblage, in which the species were plotted widely on the CCA1-CCA2 biplot. '), ('6448', 'IAP_CSF', '', 'IAP', 'CSF', '3210023', '26', 'Miller Fisher syndrome;spinocerebellar degeneration', '', '', '', '', '', '', '', '', 'CSF-IAP levels increased significantly in patients with multiple sclerosis (MS) during both the active and inactive stages and in patients with Guillain-Barr? syndrome (GBS) or Miller Fisher syndrome (MFS) as compared with those of control patients, but not in patients with amyotrophic lateral sclerosis or spinocerebellar degeneration.     ///    \"In patients with neuro-Beh?et\'s disease, CSF-IAP levels and IAP% were elevated during the active stage, but remained normal levels during the inactive stage. \"    ///    \"In contrast, in patients with GBS or MFS, increased CSF-IAP levels without elevation of IAP% could be attributed largely to increased total CSF protein levels. \"    ///    Assaying CSF-IAP could provide useful information about inflammatory or immunopathological events within the central nervous system.. '), ('6449', 'FOXL2_aromatase', '', 'FOXL2', 'aromatase', '23390004', '26', '', '', '', '', '', '', '', '', '', 'We illustrate these differences by comparing key sex genes in fishes versus birds and mammals, with emphasis on DM domain genes and the SOX9-AMH pathway in the testis and the FOXL2-Aromatase pathway in the ovary. '), ('6450', 'PSA_NCAM', '', 'PSA', 'NCAM', '17462622', '26', '', '', '', '', '', '', '', '', '', 'Expression analysis, gene-targeted knockdown experiments and in vitro catalytic assays indicate that zebrafish Stx is the principal--if not unique--polysialyltransferase performing NCAM-PSA modifications in both developing and adult fish. '), ('6451', 'P73_P63', '', 'P73', 'P63', '21762762', '26', '', '', '', '', '', '', '', '', '', 'Gene duplication occurred in an ancestor in common with cartilaginous fishes, giving rise to a separate p53 gene and at least one ancestral p63/p73 gene. '), ('6452', 'MYC_TGFA', '', 'MYC', 'TGFA', '18579559', '26', 'liver cancer', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Here, we analyzed in preneoplastic and neoplastic livers from Fisher 344 and Brown Norway rats, possessing different genetic predisposition to HCC, in transforming growth factor-alpha (TGF-alpha) and c-Myc-TGF-alpha transgenic mice, characterized by different susceptibility to HCC, and in human HCC: (i) iNOS function and interactions with nuclear factor-kB (NF-kB) and Ha-RAS/extracellular signal-regulated kinase (ERK) during hepatocarcinogenesis.     ///    \"We found progressive iNos induction in rat and mouse liver lesions, always at higher levels in the most aggressive models represented by HCC of rats genetically susceptible to hepatocarcinogenesis and c-Myc-TGF-alpha transgenic mice. \"'), ('6453', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '22374738', '26', 'congenital mesoblastic nephroma', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', 'KB', 'Seq', 'An additional 4/14 were negative by RT-PCR and absence of ETV6-NTRK3 was confirmed by FISH for both ETV6 and NTRK3.     ///    \"Unexpectedly, abundant ETV6-NTRK3 transcript copies were present in only 7/14 IFS, with very low copy number in 3/14. \"'), ('6454', 'PML_HERC1', 't(15;17)(q24;q12) / ', 'PML', 'HERC1', '20155840', '26', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', '', 'The other two had HERC1-PML and NT_009714.17-PML genomic fusion sequences at their respective reciprocal breakpoints. '), ('6455', 'PTD_MLL', '', 'PTD', 'MLL', '19144982', '26', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In addition, rare MLL fusion genes were found: 2 MLL-TET1 cases, not previously reported in ALL, 1 MLL-AF9, 1 MLL-PTD, a novel MLL-ACTN4, and an MLL-11q23 fusion. '), ('6456', 'BCAA_AAA', '', 'BCAA', 'AAA', '2467054', '26', '', '', '', '', '', '', '', '', '', 'Increased concentrations of aromatic amino acids: phenylalanine and tyrosine, and low concentrations of branched-chain amino acids: valine, leucine, and isoleucine were associated with a decrease of Fisher\'s index (BCAA/AAA molar ratio) from 3.0 +/- 0.5 (normal) to 2.0 +/- 0.5 which was of high diagnostic and prognostic significance. '), ('6457', 'RAC1_NUP214', '', 'RAC1', 'NUP214', '26517539', '26', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214..     ///    \"RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. \"'), ('6458', 'MCT_LCT', '', 'MCT', 'LCT', '24780004', '26', 'acute kidney injury;acute respiratory distress syndrome', '', '', '', '', '', '', '', '', 'Mice pre-infused with fish oil-containing lipid emulsion showed decreased leukocyte invasion, protein leakage, myeloperoxidase activity, and cytokine production in their alveolar space after LPS challenge compared to mice receiving LCT or LCT/MCT. '), ('6459', 'EPA_ARA', '', 'EPA', 'ARA', '16257554', '26', '', '', '', '', '', '', '', '', '', 'ARA-derived PGE(2) production in plasma was not affected by vegetable oils, in agreement with similar eicosanoid precursor ratio (ARA/EPA) in leukocytes total lipids and plasma phospholipids among fish fed with the different dietary treatments.     ///    \"Dietary treatments resulted in alterations of DHGLA/ARA ratios, but not ARA/EPA. \"'), ('6460', 'FADS2_FADS1', '', 'FADS2', 'FADS1', '23160180', '26', '', '', '', '', '', '', '', '', '', 'Genetic variation at the FADS1-FADS2 gene locus influences delta-5 desaturase activity and LC-PUFA proportions after fish oil supplement..     ///    \"In conclusion, different sites at the FADS1-FADS2 locus appear to influence D5D and D6D activity, and rs174537 genotype interacts with dietary EPA+DHA to modulate D5D.. \"    ///    \"In this sample of healthy subjects (n = 310), genotypes of single nucleotide polymorphisms (SNPs) rs174537, rs174561, and rs3834458 in the FADS1-FADS2 gene cluster were strongly associated with proportions of LC-PUFAs and desaturase activities estimated in plasma and erythrocytes. \"'), ('6461', 'BDKRB2_LEU8', '', 'BDKRB2', 'LEU8', '20923691', '26', '', '', '', '', '', 'Receptor', '', '', '', 'A fish bradykinin (Arg0, Trp5, Leu8-bradykinin) from the defensive skin secretion of the European edible frog, Pelophylax kl. '), ('6462', 'JAK2_ETV6', '', 'JAK2', 'ETV6', '11173830', '26', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'ETV6/PDGFRB, ETV6/JAK2, ETV6/ABL etc.), but also networks connecting several genes with more than one fusion partner (e.g. '), ('6463', 'A30_A10', '', 'A30', 'A10', '25139749', '26', '', '', '', '', '', '', '', '', '', 'The control diet (A0) used fish meal (FM) as the sole source of animal protein and the other three diets (A10-A30), 33%-100% of FM was substituted by TBM at 10% increments. '), ('6464', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '11173830', '26', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ETV6/PDGFRB, ETV6/JAK2, ETV6/ABL etc.), but also networks connecting several genes with more than one fusion partner (e.g.     ///    \"ETV6/RUNX1 (AML1), RUNX1/CBFA2T1 (ETO), ETV6/EVI1, RUNX1/EVI1, ETV6/ABL, BCR/ABL). \"'), ('6465', 'PWCR1_HBII-85', '', 'PWCR1', 'HBII-85', '16075369', '26', 'Prader Willi syndrome\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Recent studies of rare human translocation patients narrowed the PWS critical genes to a 121-kb region containing PWCR1/HBII-85 and HBII-438 snoRNA genes. '), ('6466', 'PCB_PAH', '', 'PCB', 'PAH', '25912264', '26', '', '', '', '', '', '', '', '', '', 'In this study, we carried out an experimental contamination of fish using a PAHs/PCBs mixture, which was designed to mimic the concentrations found in the Seine estuary (C1) and 10 times these concentrations (C2).     ///    Proteomic analysis of the European flounder Platichthys flesus response to experimental PAH-PCB contamination.. '), ('6467', 'PBX1_E2A', 't(1;19) / t(1;19)(q23;p13) / t(1;19)  / ', 'PBX1', 'E2A', '1355570', '26', 'leukoencephalopathy', '', '', '', '', '', 'Transcription_Factor', '', '', '1;19 translocation can alter the E2A gene, leading to formation of a chimeric E2A-PBX1 gene that retain the activator domain of the E2A gene but substitute a homeobox domain of the PBX1 gene for the helix-loop-helix DNA binding and dimerization domain of E2A. '), ('6468', 'sulfatase_GUSB', '', 'sulfatase', 'GUSB', '25269264', '26', '', '', '', '', '', '', '', '', '', 'The samples (fish, liver, milk and honey) were enzymatically digested by beta-glucuronidase/sulfatase for about 16 h and then extracted with ether. '), ('6469', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '12065783', '25', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the present investigation, we describe a new SS case that was previously shown to be negative for SYT/SSX1 and SYT/SSX2 expression by conventional reverse transcription polymerase chain reaction (RT-PCR) methods. '), ('6470', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) (p23;q35) / t(2;5)  / ', 'NPM', 'ALK', '9274957', '25', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Using primers spanning the NPM/ALK fusion junction, PCR amplification following reverse transcription (RT) of mRNA failed to show the products of NPM/ALK fusion in all samples tested. '), ('6471', 'HMGIC_FHIT', '3p14.2 / ', 'HMGIC', 'FHIT', '8988031', '25', 'angiomyxoma', 'PCR', '', '', '', '', '', '', '', 'In addition to normal HMGIC and FHIT transcripts, an HMGIC/FHIT hybrid transcript as well as its reciprocal counterpart, FHIT/HMGIC, were found to be expressed by reverse transcription-PCR. '), ('6472', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '8683984', '25', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Since all three patients are presently in clinical and hematological complete remission, PCR detection of persistent E2A/ PBX1 transcript does not seem to affect significantly the DFS at 3 years. '), ('6473', 'MECT1_MAML2', 't(11;19)  / ', 'MECT1', 'MAML2', '16103063', '25', '', 'PCR', '', '', '', '', '', '', '', 'In addition, we detected candidate cAMP-responsive element sites within 100 nucleotides of the transcriptional start sites of other genes activated by Mect1-Maml2 expression.     ///    \"Further, we have shown that the ectopic induction of Mect1-Maml2 in HeLa cells strongly activated the expression of a group of known cAMP/CREB-regulated genes. \"    ///    Mect1-Maml2 fusion oncogene linked to the aberrant activation of cyclic AMP/CREB regulated genes..     ///    \"To determine if the Mect1-Maml2 fusion oncogene mediates tumorigenicity by disrupting cAMP/CREB signaling, we have generated in-frame deletions within the CREB-binding domain of Mect1/Torc1 for testing transformation activity and have also developed a doxycycline-regulated Mect1-Maml2 mammalian expression vector for global gene expression profiling. \"    ///    \"In addition, we detected candidate cAMP-responsive element sites within 100 nucleotides of the transcriptional start sites of other genes activated by Mect1-Maml2 expression.\"'), ('6474', 'NUP98_HOXC13', 't(11;12)(p15;q13) / t(11;12) / ', 'NUP98', 'HOXC13', '12461755', '25', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', 'PCR;ISH', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Neither the HOXC13/NUP98 transcript nor the normal HOXC13 was expressed. '), ('6475', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '12065783', '25', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the present investigation, we describe a new SS case that was previously shown to be negative for SYT/SSX1 and SYT/SSX2 expression by conventional reverse transcription polymerase chain reaction (RT-PCR) methods. '), ('6476', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '14962911', '25', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, transient expression of NPM-ALK in U-20S cells inhibited FOXO3a-mediated transactivation of reporter gene expression.     ///    \"Thus, FOXO3a is a barrier to hematopoietic transformation that is overcome by phosphorylation and cytoplasmic relocalization induced by the expression of NPM-ALK.. \"    ///    \"To further study survival signaling by NPMALK, we generated Ba/F3 cell lines with either inducible or constitutive expression of NPM-ALK and examined the regulation of the AKT target FOXO3a. \"    ///    \"In Ba/F3 cells with induced or constitutive expression of NPM-ALK, concomitant AKT activation and phosphorylation of its substrate, FOXO3a, was observed. \"    ///    NPM-ALK fusion kinase of anaplastic large-cell lymphoma regulates survival and proliferative signaling through modulation of FOXO3a.. '), ('6477', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '23015660', '25', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Our aim was to establish a sensitive method which is able to identify all combinatorially possible EWSR1-FLI1 and EWSR1-ERG translocation transcripts in FFPE tissue samples despite significant RNA-degradation.     ///    \"Using this method, we processed 60 FFPE samples of Ewing sarcoma family of tumours, and identified six types EWSR1-FLI1 and one type EWSR1-ERG chimeric transcripts acceptable for RT-PCR analysis in 27 out of 45 samples. \"    ///    \"The combination of fluorescent multiplex PCR with laser-induced capillary electrophoresis was used to detect and identify EWSR1-FLI1 and EWSR1-ERG chimeric transcripts on the basis of amplicon size, and forward primers labelled by distinct fluorophores. \"'), ('6478', 'PAX5_ELN', 't(7;9)(q11;p13) / ', 'PAX5', 'ELN', '17179230', '25', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Furthermore, real-time quantitative polymerase chain reaction (RQ-PCR) experiments showed that PAX5-ELN was able to affect the transcription of endogenous PAX5 target genes.     ///    \"Thus, in vitro, PAX5-ELN was able to block CD19 transcription. \"    ///    \"The mechanism involved in this process appears to be, at least in part, through a dominant-negative effect of PAX5-ELN on the wild-type PAX5 in a setting ofPAX5 haploinsufficiency.. \"    ///    Chromatin immunoprecipitation clearly indicated that PAX5-ELN retained the capability to bind CD19 and BLK promoter sequences.     ///    A novel PAX5-ELN fusion protein identified in B-cell acute lymphoblastic leukemia acts as a dominant negative on wild-type PAX5..     ///    \"After cloning the full-length cDNA of the chimeric gene, confocal microscopy of transfected NIH3T3 cells and Burkitt lymphoma cells (DG75) demonstrated that PAX5-ELN was localized in the nucleus. \"'), ('6479', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '9342843', '25', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'When cultured in ATRA, these resistant cells still express PML, RAR alpha, and PML/RAR alpha proteins. '), ('6480', 'GAL4_BLIMP1', '', 'GAL4', 'BLIMP1', '21216469', '25', '', '', '', '', '', '', '', '', '', 'Results from the reporter assays in mammalian cell lines (HeLa, HEK-293, CV-1 and NIH3T3) and the fish cell line EPC show that Gal4-BCL6 and Gal4-Blimp1 strongly repress the transcription of the luciferase gene in all cell lines. '), ('6481', 'YAP_TAZ', '', 'YAP', 'TAZ', '24562386', '25', '', '', '', '', '', '', '', '', '', 'Arl4c expression resulted in rearrangement of the cytoskeleton through activation of Rac and inactivation of Rho properly, which promoted cell growth by inducing nuclear translocation of Yes-associated protein and transcriptional co-activator with PDZ-binding motif (YAP/TAZ) in leading cells.     ///    YAP/TAZ was observed in the nucleus of extending ureteric bud tips. '), ('6482', 'GAL4_BCL6', '', 'GAL4', 'BCL6', '21216469', '25', '', '', '', 'Oncogene', '', '', '', '', '', 'Results from the reporter assays in mammalian cell lines (HeLa, HEK-293, CV-1 and NIH3T3) and the fish cell line EPC show that Gal4-BCL6 and Gal4-Blimp1 strongly repress the transcription of the luciferase gene in all cell lines. '), ('6483', 'NHL_BCL2', '', 'NHL', 'BCL2', '8703825', '25', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The present study suggests that BCL6 gene rearrangement is primarily involved in large cell lymphoma irrespective of growth pattern of neoplastic cells, and that BCL6(+)BCL2(-) NHL could be curable with modern intensive chemotherapy.. '), ('6484', 'SRF_MAL', 't(1;22)(p13;q13) / ', 'SRF', 'MAL', '12732141', '25', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The MAL-SRF interaction displays the predicted properties of a Rho-regulated SRF cofactor. '), ('6485', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '10229776', '25', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'The current case was tested for the SYT-SSX fusion by reverse transcriptase polymerase chain reaction (PCR) followed by sequencing of the PCR product.     ///    \"As the number of reported variations of the SYT-SSX chimeric fusion increases in synovial sarcoma, the mechanics of the translocation machinery and the functional significance of these chimeric fusions will be better understood.. \"'), ('6486', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '17654723', '25', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'In this article we present evidence demonstrating that multiple genomic alterations contribute to the formation of various TMPRSS2/ERG transcripts. '), ('6487', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '16084951', '25', 'anaplastic large cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK has been shown to activate signal transducer and activator of transcription (STAT) 3, a transcriptional regulator of cyclin D3. '), ('6488', 'IGF2_H19', '', 'IGF2', 'H19', '21278389', '25', 'Silver-Russell syndrome\r\r', '', '', '', '', '', '', '', '', 'Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation..     ///    They all have a breakpoint within the H19/IGF2 enhancer region. '), ('6489', 'P27_KIP1', '12p12.3 / ', 'P27', 'KIP1', '10580149', '25', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Two genes, ETV6/TEL and p27/KIP1, are located in this interval.     ///    The map covers 1.8Mb and extends from the distal salivary proline-rich protein gene cluster to the proximal p27/KIP1 gene.     ///    The data confirmed the order tel-D12S358-p27/KIP1-cen and excluded p27/KIP1 as a candidate tumor suppressor gene. '), ('6490', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '16857994', '25', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'These data carry implications for the hematopoietic progenitor targeted by the PML-RARA oncoprotein in APL and are suggestive of a different cellular origin for classic hypergranular (M3) and variant forms of the disease. '), ('6491', 'MLT_API2', 't(11;18)(q21;q21) / t(11;18) / ', 'MLT', 'API2', '10339464', '25', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'As a result, the reciprocal transcript was not present, strongly suggesting that the API2-MLT fusion is involved in the oncogenesis of MALT lymphoma.. '), ('6492', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '24735198', '25', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', 'Seq', 'However, reverse transcription-polymerase chain reaction (RT-PCR) analysis confirmed the presence of a rare variant of the EWSR1-FLI1 fusion transcript, featuring fusion of EWSR1 exon 10 to FLI1 exon 6.     ///    Primary subcutaneous spindle cell Ewing sarcoma with strong S100 expression and EWSR1-FLI1 fusion: a case report..     ///    \"Ewing sarcoma most often is characterized by a fusion of the Ewing sarcoma breakpoint region 1 (EWSR1) and the Friend leukemia virus integration 1 (FLI1) genes, forming an EWSR1-FLI1 fusion transcript. \"'), ('6493', 'TRAF1_ALK', '', 'TRAF1', 'ALK', '23999969', '25', 'anaplastic large cell lymphoma;lymphoma;hematologic malignancy\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The TRAF1-ALK fusion transcript was confirmed at the mRNA level by Sanger sequencing and the fusion protein was visualized by Western blot.     ///    The discovery of this TRAF1-ALK fusion expands the diversity of known ALK fusion partners and highlights the power of deep sequencing for fusion transcript discovery.     ///    Novel TRAF1-ALK fusion identified by deep RNA sequencing of anaplastic large cell lymphoma.. '), ('6494', 'NDUFAF2_MAST4', '', 'NDUFAF2', 'MAST4', '23615946', '25', 'prostate cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'On RNA level, only five transcripts were detected and NDUFAF2-MAST4 was the only resulting in an in-frame fusion transcript. '), ('6495', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '23015660', '25', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', 'Seq', 'Our aim was to establish a sensitive method which is able to identify all combinatorially possible EWSR1-FLI1 and EWSR1-ERG translocation transcripts in FFPE tissue samples despite significant RNA-degradation.     ///    \"Using this method, we processed 60 FFPE samples of Ewing sarcoma family of tumours, and identified six types EWSR1-FLI1 and one type EWSR1-ERG chimeric transcripts acceptable for RT-PCR analysis in 27 out of 45 samples. \"    ///    \"The combination of fluorescent multiplex PCR with laser-induced capillary electrophoresis was used to detect and identify EWSR1-FLI1 and EWSR1-ERG chimeric transcripts on the basis of amplicon size, and forward primers labelled by distinct fluorophores. \"'), ('6496', 'FGFR1_CEP1', 't(8;9)(p11;q33) / ', 'FGFR1', 'CEP1', '18295660', '25', 'hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'previously CEP1)/fibroblast growth factor receptor 1 (FGFR1) fusion transcript. '), ('6497', 'BCR_ABL1', '', 'BCR', 'ABL1', '9809034', '24', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The BCR/ABL1-D probe, formatted to display a fluorescent signal for both the reciprocal products of a 9/22 rearrangement, gave a positive fusion signal on the derivatives 9 and 22.     ///    \"Fluorescence in situ hybridization with a BCR/ABL1-S probe, which is formatted to display a BCR/ABL fusion signal on chromosome 22, gave a positive fusion signal on a chromosome 9. \"'), ('6498', 'ETV6_AML1', 't(12;21)(p13;q22) / ', 'ETV6', 'AML1', '9864173', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'ETV6-AML1 translocation breakpoints cluster near a purine/pyrimidine repeat region in the ETV6 gene..     ///    \"Here, we report the mapping of the AML1 gene between exons 1 and 3, cloning of ETV6-AML1 breakpoints from different patients, and localization of the AML1 breakpoints within AML1 intron 1. \"'), ('6499', 'LMO2_TCRD', 't(11;14)(p13;q11) / ', 'LMO2', 'TCRD', '17360939', '24', 'T ALL\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Furthermore, the position of the LMO2 breakpoints in T-ALL in the light of the occurrence of TCRD-LMO2 translocations in normal thymocytes points to a critical role for the exact breakpoint location in determining LMO2 activation levels and the consequent pressure for T-ALL development.. ');
INSERT INTO `ChimerPub_dump` VALUES ('6500', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '23469153', '24', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'More than 80% of ARMSs harbor a PAX3-FOXO1 fusion transcription factor.    ///    More than 80% of ARMSs harbor a PAX3-FOXO1 fusion transcription factor.     ///    Here we report that inhibition of cyclin-dependent kinase 4 (Cdk4) by fascaplysin (a small molecule selective inhibitor of Cdk4/cyclin D1 that we identified in a screen for compounds that inhibit PAX3-FOXO1) led to inhibition of the transcriptional activity of PAX3-FOXO1 in ARMS cell line Rh30.    ///    Here we report that inhibition of cyclin-dependent kinase 4 (Cdk4) by fascaplysin (a small molecule selective inhibitor of Cdk4/cyclin D1 that we identified in a screen for compounds that inhibit PAX3-FOXO1) led to inhibition of the transcriptional activity of PAX3-FOXO1 in ARMS cell line Rh30.     ///    \"Whereas fascaplysin did not affect the protein level of PAX3-FOXO1, it did increase the cytoplasmic level of PAX3-FOXO1 in a portion of cells.\"    ///    Cyclin-dependent kinase 4 phosphorylates and positively regulates PAX3-FOXO1 in human alveolar rhabdomyosarcoma cells..     ///    This prompted us to examine the signaling pathways required to activate the function of PAX3-FOXO1 and to explore the functional interaction between the Ink4a/ARF and PAX3-FOXO1 signaling pathways.     ///    \"Whereas fascaplysin did not affect the protein level of PAX3-FOXO1, it did increase the cytoplasmic level of PAX3-FOXO1 in a portion of cells. \"    ///    Our findings indicate that Cdk4 phosphorylates and positively regulates PAX3-FOXO1 and suggest that inhibition of Cdk4 activity should be explored as a promising avenue for developing therapy for ARMS..     ///    In vitro kinase assays revealed that Cdk4 directly phosphorylated PAX3-FOXO1 at Ser(430).     ///    \"However, expression of PAX3-FOXO1 in muscle cells alone is not sufficient and requires the loss of function of Ink4a/ARF to promote malignant proliferation of muscle cells in vitro or initiate ARMS tumor formation in vivo. \"    ///    \"Consistent with this finding, activation of Cdk4 enhanced the activity of PAX3-FOXO1. \"'), ('6501', 'CYP2B_CAR', '', 'CYP2B', 'CAR', '11976065', '24', '', '', '', '', '', '', '', '', '', 'These results suggest that there may be species-specific differences in CAR activation or CAR-CYP2B coupling signaling transduction in fish from those in mouse..     ///    One approach to understanding CAR function is to study the evolutionary history of processes such as CAR-CYP2B coupling. '), ('6502', 'GJB6_GJB2', 'chr13:19 / ', 'GJB6', 'GJB2', '20236118', '24', '', '', '', '', '', '', '', '', '', 'Characterization of distant GJB2/GJB6 cis-regulatory regions evidenced by this allele may be required to find the \'missing\' DFNB1 mutations that are believed to exist.. '), ('6503', 'SYT_SSX', '', 'SYT', 'SSX', '18202796', '24', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Data on 108 SYT-SSX fusion transcript-positive patients with synovial sarcoma, treated in 11 tertiary referral cancer centers in Japan, were retrospectively analyzed.     ///    Prognostic implication of SYT-SSX fusion type in synovial sarcoma: a multi-institutional retrospective analysis in Japan..     ///    \"In conclusion, the SYT-SSX fusion type is not a significant prognostic factor unlike tumor size, followed by histological grade for patients with localized synovial sarcoma in Japan.. \"    ///    \"Univariate survival analyses for 91 patients with localized disease at presentation showed that tumor size was the only significant prognostic factor for OS (P=0.0033) and MFS (P=0.0029) and the histological grade was marginally significant for MFS (P=0.0785), whereas the SYT-SSX fusion type and other variables were not. \"    ///     The prognostic implication of SYT-SSX fusion type in synovial sarcomas is still controversial.     ///    \"The following parameters were examined for their potential prognostic impact: SYT-SSX fusion type, patient age at presentation, sex, primary tumor location, tumor size, histological subtype, histological grade, treatment modalities and disease stage at presentation. \"'), ('6504', 'TLS_ERG', '', 'TLS', 'ERG', '18021563', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Thirteen cases of TEL-AML1, 10 cases of rearrangement in the MLL gene, 4 cases of E2A-PBX1, 4 cases of E2A-HLF, 3 cases of BCR-ABL, 2 cases of TLS-ERG, 32 cases of HOX11 were detected by Multiplex PCR in B-lineage leukemias. '), ('6505', 'NF1_CSF3', 't(17;22) / ', 'NF1', 'CSF3', '2491776', '24', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The gene cluster including ErbA1 is known to be flanked by the constitutional 15;17 translocation breakpoint in hybrid SP3 and by the acute promyelocytic leukemia (APL) breakpoint, which provides the following gene and breakpoint order: cen-SP3-(D17S33,CRYB1)-NF1-(CSF3,ERBA1, ERBB2)-APL-tel. '), ('6506', 'HLF_E2A', '', 'HLF', 'E2A', '18021563', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'Thirteen cases of TEL-AML1, 10 cases of rearrangement in the MLL gene, 4 cases of E2A-PBX1, 4 cases of E2A-HLF, 3 cases of BCR-ABL, 2 cases of TLS-ERG, 32 cases of HOX11 were detected by Multiplex PCR in B-lineage leukemias. '), ('6507', 'RARA_PLZF', 't(15;17)  / ', 'RARA', 'PLZF', '22655241', '24', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'However, there are few data on tracking disease response in patients with rarer retinoid resistant subtypes of APL, characterized by PLZF-RARA and STAT5b-RARA.     ///    \"Despite their rarity (<1% of APL) we identified 6 cases (PLZF-RARA, n?=?5. \"    ///    Serial samples were available from two PLZF-RARA APL patients. '), ('6508', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '9523202', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We expanded the primary cells from this ETV6/ABL rearranged case of ALL in SCID animals and analyzed them for expression of both ETV6/ABL and the normal ETV6 mRNA.     ///    \"Thus, deletion of the second ETV6 allele is not necessary for the transformation to leukemia by ETV6/ABL.. \"    ///    The second ETV6 allele is not necessarily deleted in acute leukemias with a ETV6/ABL fusion.. '), ('6509', 'RET_PTC', '', 'RET', 'PTC', '24633422', '24', 'lung cancer;neuroblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'There was notably a lack of mutations in NRAS and BRAF, and no RET/PTC rearrangement. '), ('6510', 'TEL_AML1', '', 'TEL', 'AML1', '18021563', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Thirteen cases of TEL-AML1, 10 cases of rearrangement in the MLL gene, 4 cases of E2A-PBX1, 4 cases of E2A-HLF, 3 cases of BCR-ABL, 2 cases of TLS-ERG, 32 cases of HOX11 were detected by Multiplex PCR in B-lineage leukemias. '), ('6511', 'P53_HDM2', '', 'P53', 'HDM2', '17199506', '24', '', '', '', '', '', '', '', '', '', 'Here we use the p53-Hdm2 Redistribution assay (Fisher BioImage ApS, S??borg, Denmark) as an example to describe the GRIP technology.     ///    \"Here we show that by taking advantage of the translocation behavior of nonbound p53, it is possible to identify true inhibitors of the p53-Hdm2 interaction by extracting high content information from the acquired images.. \"    ///    The p53-Hdm2 Redistribution assay is a high content imaging assay based on the GRIP technology that is designed to measure the interaction between Hdm2 and the tumor suppressor p53.     ///    \"We have performed a pilot screen by screening 3,165 compounds from a diverse small-molecule library for inhibitors of the p53-Hdm2 interaction by using the p53-Hdm2 Redistribution assay. \"'), ('6512', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '22533991', '24', 'alveolar rhabdomyosarcoma', '', '', '', '', '', '', '', '', 'More than 80% of aggressive ARMSs harbor a PAX3-FKHR fusion transcription factor, which regulates cell migration and promotes metastasis, most likely by regulating the fusion protein\'s transcriptional targets.     ///    \"We showed that PAX3-FKHR binds to a paired-domain binding-site in the CPT1A promoter region, indicating that CPT1A is a novel transcriptional target of PAX3-FKHR. \"    ///    \"Taken together, we have identified CPT1A as a novel transcriptional target of PAX3-FKHR and revealed the novel function of CPT1A in promoting cell motility. \"    ///    \"We used mutational analysis, promoter reporter assays, and electrophoretic mobility shift assays to determine whether PAX3-FKHR binds to the promoter region of the target gene. \"    ///    \"We found that when PAX3-FKHR was downregulated, the expression of carnitine palmitoyltransferase 1A (CPT1A) decreased. \"    ///    We used siRNA and pharmacologic inhibitor to downregulate the target gene of PAX3-FKHR and investigated the effect of such downregulation on cell motility.     ///    We used microarray analysis to identify genes whose expression level decreased when PAX3-FKHR was downregulated.     ///    \"To identify genes whose expression is directly affected by the level of PAX3-FKHR in an ARMS cellular-context, we first developed an ARMS cell line in which PAX3-FKHR is stably down-regulated, and showed that stably downregulating PAX3-FKHR in ARMS cells significantly decreased the cells\' motility. \"'), ('6513', 'IGH_CRLF2', '', 'IGH', 'CRLF2', '20139093', '24', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'One case had both IGH@-CRLF2 and P2RY8-CRLF2, and another had a novel CRLF2 rearrangement. '), ('6514', 'NF1_CRYB1', 't(17;22) / ', 'NF1', 'CRYB1', '2491776', '24', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The gene cluster including ErbA1 is known to be flanked by the constitutional 15;17 translocation breakpoint in hybrid SP3 and by the acute promyelocytic leukemia (APL) breakpoint, which provides the following gene and breakpoint order: cen-SP3-(D17S33,CRYB1)-NF1-(CSF3,ERBA1, ERBB2)-APL-tel. '), ('6515', 'P63_TTF1', '', 'P63', 'TTF1', '21036415', '24', 'adenocarcinoma\r\r', 'FISH;RT-PCR ', '', '', '', '', '', '', '', 'Frequent ALK rearrangement and TTF-1/p63 co-expression in lung adenocarcinoma with signet-ring cell component.. '), ('6516', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '23185447', '24', 'rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', 'Seq', 'We crossed a publicly available list of all putative EWSR1-FLI1 target genes in ESFT with our microarray expression data on 24 PCa and 6 non-malignant prostate tissues (NPT) and choose four genes among the top-most differentially expressed between PCa with (PCa ERG+) and without (PCa ETS-) ETS fusion genes (HIST1H4L, KCNN2, ECRG4 and LDOC1), as well as four well-validated direct targets of the EWSR1-FLI1 chimeric protein in ESFT (NR0B1, CAV1, IGFBP3 and TGFBR2).     ///    \"Using quantitative expression analysis in 16 ESFT and seven alveolar rhabdomyosarcomas (ARMS), we were able to validate the four genes previously described as direct targets of the EWSR1-FLI1 oncoprotein, showing overexpression of CAV1 and NR0B1 and underexpression of IGFBP3 and TGFBR2 in ESFT as compared to ARMS. \"'), ('6517', 'DHFR_CDA', '', 'DHFR', 'CDA', '16194358', '24', '', 'PCR', '', '', '', '', '', '', '', '[Mice transduced with double-mutant dihydrofolate reductase-cytidine deaminase fusion gene attained protection from high dose chemotherapy]..     ///    Human double-mutant dihydrofolate reductase-cytidine deaminase fusion gene was transferred into two mice bone marrow cells by retroviral vector. '), ('6518', 'IGH_BCL2', '', 'IGH', 'BCL2', '12663733', '24', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The overall incidence of Bcl-2/IgH positivity was 9.6%, with a median number of 11 rearrangements per 1,000,000 diploid genomes (range, 0 to 2,845 rearrangements), as assessed by real-time PCR.     ///    \" To assess whether nonneoplastic Bcl-2/IgH rearrangements act as a confounding factor in the setting of minimal residual disease analysis by evaluating their incidence in a panel of lymphoma-free subjects, including cancer-free donors and chemotherapy-naive and chemotherapy-treated cancer patients. \"    ///    PCR-detectable nonneoplastic Bcl-2/IgH rearrangements are common in normal subjects and cancer patients at diagnosis but rare in subjects treated with chemotherapy..     ///    The low incidence of nonneoplastic Bcl-2/IgH rearrangements following chemotherapy provides further evidence of the prognostic role of persistent PCR-positivity in the posttreatment molecular follow-up of follicular lymphoma patients.. '), ('6519', 'SYT_SSX1', '', 'SYT', 'SSX1', '15747098', '23', 'synovial sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this study, we developed a simple and rapid method for the simultaneous detection of SYT-SSX1 and SYT-SSX2 rearrangements by using a LightCycler real-time one-step reverse transcriptase polymerase chain reaction (RT-PCR) technology (Roche).     ///    \"In most cases, it results in fusion of the SYT gene with the SSX1 or SSX2 gene, thus creating SYT-SSX1 or SYT-SSX2 rearrangement. \"    ///    \"With this method, 27 tumors (9 synovial sarcomas and 18 nonsynovial sarcomas) were studied and showed SYT-SSX1 rearrangement in 6 cases and SYT-SSX2 in 3 cases. \"'), ('6520', 'ETO_AML1', 't(8;21) / ', 'ETO', 'AML1', '17657222', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Thus, our observations suggest that AML1-ETO and its splice variant AML1-ETO9a are able to regulate the expression of the CD44 gene, linking the 8;21 translocation to the regulation of a cell adhesion molecule that is involved in the growth and maintenance of the AML blast/stem cells..     ///    \"Furthermore, the CD44 promoter is bound by AML1-ETO9a and AML1-ETO at the chromatin level. \"'), ('6521', 'EWS_ERG', 't(21;22) / t(11;22)(q24;q12) / t(21;22)(q22;q12) / ', 'EWS', 'ERG', '8162068', '23', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Identical EWS nucleotide sequences found in the EWS/FLI-1 fusion transcripts are fused to portions of ERG encoding an ETS DNA-binding domain resulting in expression of a hybrid EWS/ERG protein. '), ('6522', 'ATIC_ALK', '', 'ATIC', 'ALK', '12939746', '23', '', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Subsequent FISH and RT-PCR analysis confirmed the ALK-ATIC chimeric fusion in tumor cells.     ///    ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor.. '), ('6523', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8674046', '23', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The PML-retinoic acid receptor alpha (RARA) oncoprotein, which is generated by the translocation, blocks the differentiation, and ATRA is thought to modulate the dominant negative function of PML-RARA.     ///    PML-RARA transcripts were not down-regulated by ATRA.     ///    Accelerated degradation of PML-retinoic acid receptor alpha (PML-RARA) oncoprotein by all-trans-retinoic acid in acute promyelocytic leukemia: possible role of the proteasome pathway..     ///    \"In this study, we showed by means of immunoblotting that the expression of PML-RARA decreased within 12 h in APL cells treated with ATRA at concentrations greater than 0.1 microM. \"    ///    \"These data indicate that the PML-RARA degradation is accelerated by pharmacological concentrations of ATRA, suggesting that ATRA allows APL cells to differentiate by relieving the differentiation block.. \"    ///    \"However, the molecular effect of ATRA on PML-RARA is unknown. \"    ///    The decrease of PML-RARA was associated with restoration of the normal subcellular PML localization.     ///    \"However, lactacystin, a specific inhibitor of the proteasome, almost completely inhibited the decrease of PML-RARA. \"'), ('6524', 'UBE2L3_KRAS', '', 'UBE2L3', 'KRAS', '22140652', '23', 'prostate cancer\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'In NIH 3T3 cells, UBE2L3-KRAS attenuates MEK/ERK signaling, commonly engaged by oncogenic mutant KRAS, and instead signals via AKT and p38 mitogen-activated protein kinase (MAPK) pathways.     ///    \"In DU145 cells, UBE2L3-KRAS produces a fusion protein, a specific knockdown of which attenuates cell invasion and xenograft growth. \"    ///    Ectopic expression of the UBE2L3-KRAS fusion protein exhibits transforming activity in NIH 3T3 fibroblasts and RWPE prostate epithelial cells in vitro and in vivo. '), ('6525', 'SYT_SSX2', '', 'SYT', 'SSX2', '15747098', '23', 'synovial sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this study, we developed a simple and rapid method for the simultaneous detection of SYT-SSX1 and SYT-SSX2 rearrangements by using a LightCycler real-time one-step reverse transcriptase polymerase chain reaction (RT-PCR) technology (Roche).     ///    \"In most cases, it results in fusion of the SYT gene with the SSX1 or SSX2 gene, thus creating SYT-SSX1 or SYT-SSX2 rearrangement. \"    ///    \"With this method, 27 tumors (9 synovial sarcomas and 18 nonsynovial sarcomas) were studied and showed SYT-SSX1 rearrangement in 6 cases and SYT-SSX2 in 3 cases. \"'), ('6526', 'MECT1_MAML2', 'inv(11)(q21q23) / ', 'MECT1', 'MAML2', '17551948', '23', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'MLL-MAML2 in secondary AML/MDS and MECT1-MAML2 in mucoepithelioid carcinoma, benign Wartin\'s tumor, and clear cell hidradenoma consist of the same COOH-terminal part of MAML2. '), ('6527', 'MLL_KNL1', 't(11;15)  / t(11;15)(q23;q14) / t(11;15) / ', 'MLL', 'KNL1', '12618766', '23', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Here we analyse a sample from another patient with this translocation and confirm the presence of an MLL-AF15q14 fusion.     ///    Both MLL-AF15q14 and MLL-MPFYVE are in-frame fusion transcripts with the potential to code for novel fusion proteins. '), ('6528', 'PAX8_PPARG', 't(2;3)(q13;p25) / / ', 'PAX8', 'PPARG', '16609007', '23', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Delineation, functional validation, and bioinformatic evaluation of gene expression in thyroid follicular carcinomas with the PAX8-PPARG translocation.    ///    \"Delineation, functional validation, and bioinformatic evaluation of gene expression in thyroid follicular carcinomas with the PAX8-PPARG translocation.. \"'), ('6529', 'IGH_BCL2', '', 'IGH', 'BCL2', '21227398', '23', 'leukemia;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular diagnostic laboratories face such difficulties with the BCL2-IGH translocation in follicular lymphoma and with internal tandem duplication mutation of the FLT3 gene in leukemia, where breakpoints are widely distributed, mutations may be multiple, signal strength is low, and background noise is elevated. '), ('6530', 'BCR_ABL1', '', 'BCR', 'ABL1', '20508029', '23', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The e14/a2 (b3/a2) type BCR-ABL mRNA incorporated a 42-nucleotide intronic insertion of ABL intron Ib between BCR exon e14 and ABL exon a2.     ///     We identified a novel breakpoint cluster region-ABL rearrangement in a chronic myeloid leukemia (CML) patient.     ///    \"Using a PCR-based method, this analysis revealed that i) BCR intron 14 brought a potential lariat branch point and the polypyrimidine tract, ii) the BCR-ABL breakpoint created a chimeric acceptor site, and iii) the inserted sequence of ABL intron Ib carried at its 3\' end a well-conserved donor splice site. \"'), ('6531', 'MLLT3_MLL', '', 'MLLT3', 'MLL', '24564228', '23', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'Furthermore, ARID5B rs10821936 conferred increased risk for MLL-MLLT3 positive cases (OR 7.10, 95% CI:1.54-32.68).     ///    \"IKZF1 and CEBPE variants seem to play a minor role in genetic susceptibility to EAL, while ARID5B rs10821936 increased the risk of MLL-MLLT3. \"'), ('6532', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '16914570', '23', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'A group of four genes (DKK3, sFRP2, PTEN, and P73) showed specificity for ETV6/RUNX1-positive subset of samples.     ///     To examine cancer genes undergoing epigenetic inactivation in a set of ETV6/RUNX1-positive acute lymphoblastic leukemias in order to define the CpG island methylator phenotype (CIMP) in the disease and evaluate its relationship with clinical features and outcome.     ///    Methylation-specific PCR was used to analyze the methylation status of 38 genes involved in cell immortalization and transformation in 54 ETV6/RUNX1-positive samples in comparison with 190 ETV6/RUNX1-negative samples.     ///    Our results suggest that methylation profile may be a potential new biomarker of risk prediction in ETV6/RUNX1-positive acute lymphoblastic leukemias..     ///    ETV6/RUNX1-positive samples had at least one gene methylated in 89% of the cases. '), ('6533', 'UFD2_HDNB1', '1p36.2 / ', 'UFD2', 'HDNB1', '10980605', '23', 'neuroblastoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'At least three genes (HDNB1/UFD2, KIAA0591F/KIF1B-beta, and PEX14) were differentially expressed at high levels in favorable and at low levels in unfavorable subsets of primary neuroblastoma.     ///    \"We have, thus far, identified six genes within the region which include three known genes (DFF45, PGD, and CORT) as well as three other genes which have been reported during processing our present project for the last 3(1/2) years (HDNB1/UFD2, KIAA0591F/KIF1B-beta, and PEX14). \"'), ('6534', 'TNXB_CYP21A2', '6p21.3 / ', 'TNXB', 'CYP21A2', '21324303', '23', 'congenital adrenal hyperplasia\r\r', 'PCR', '', '', '', '', '', '', '', 'Moreover, the existence of the CYP21A2-like gene is more abundant than that of the duplicated CYP21A2 gene downstream of the XA gene and could not be distinguished from the CYP21A2-TNXB gene. '), ('6535', 'IGH_BCL6', 't(3;14)(q27;q32) / t(3;14)  / ', 'IGH', 'BCL6', '8557040', '23', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'An analysis of cDNA clones showed that these recombinations generate chimeric IgH-BCL6 transcripts which initiated from IgH germline transcript promoters (I mu or I gamma 3), but retain a normal BCL6 coding domain. '), ('6536', 'MMSET_FGFR3', '', 'MMSET', 'FGFR3', '15496980', '23', '', 'PCR', 'Kinase', '', '', '', '', '', '', 'Using a combination of these methods, we have succeeded in amplifying IGHS translocation breakpoints involving FGFR3/MMSET on 4p16, BCL6 on 3q27, MYC on 8q24, IRTA1 on 1q21 and PAX5 on 9p13 as well as BCL11A on 2p13 and CCND3 on 6p21. '), ('6537', 'ORM2_ORM1', '', 'ORM2', 'ORM1', '16670946', '23', '', '', '', '', '', '', '', '', '', 'The duplicated ORM1-ORM2 gene was observed in all 16 samples. '), ('6538', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '22248505', '23', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Minimal residual disease was monitored by RQ-PCR for the BCR-ABL1/ABL ratio. '), ('6539', 'CCND1_GAPDH', 't(11;14)(q13;q32) / ', 'CCND1', 'GAPDH', '12011261', '23', 'lymphoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'For example, in lymph node specimens, the median cyclin D1/GAPDH ratio was 147 (range, 94-160) in MCL, compared with 8.6 (range, 4-18) in chronic lymphocytic leukemia/small lymphocytic lymphoma. '), ('6540', 'MLL_ELL', '19p13.1 / ', 'MLL', 'ELL', '9268387', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Taken together, these results raise the possibility that the MLL-ELL translocation could alter ELL-RNA polymerase II interactions that are not involved in regulation of elongation..     ///    \"Notably, the MLL-ELL translocation results in deletion of a portion of this functional domain, and ELL mutants lacking sequences deleted by the translocation bind RNA polymerase II and are fully active in elongation, but fail to inhibit initiation. \"'), ('6541', 'EVI1_AML1', 't(8;21)(q22;q22) / t(3;21)(q26;q22) / ', 'EVI1', 'AML1', '16843110', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'In a bone marrow sample taken 25 days from diagnosis, PCR for AML1-EVI1 was negative, and EVI1 expression, as assessed by quantitative real-time PCR, was within the same range as that of healthy controls. '), ('6542', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '24307551', '23', 'hematologic malignancy;hematologic malignancy\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Also, we successfully assayed RUNX1-RUNX1T1 reciprocal translocations by finding both breakpoints in the Kasumi-1 cell line. '), ('6543', 'TAL1_SIL', '', 'TAL1', 'SIL', '8630377', '23', 'T ALL\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' No constant genetic alteration has yet been unravelled in T-cell acute lymphoblastic leukemia (T-ALL), and, to date, the most frequent alteration, the SIL-TAL1 deletion, is found in approximately 20% of cases. '), ('6544', 'BP2_BP1', '', 'BP2', 'BP1', '25596525', '23', '', '', '', '', '', '', '', '', '', 'Our results support the hypothesis that 15q11.2 (BP1-BP2) microdeletion is associated with developmental delay, abnormal behaviour, generalized epilepsy and congenital heart disease.     ///    \"15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.. \"'), ('6545', 'ZNF198_FGFR1', 't(8;13)(p11;q12) / ', 'ZNF198', 'FGFR1', '12776193', '23', 'leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'The ZNF198/FGFR1 fusion protein also binds to HHR6. '), ('6546', 'NKD1_MLL', '', 'NKD1', 'MLL', '22845170', '23', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Other fusions, all previously clinically unobserved, included MLL-NKD1, a fusion to the negative regulator of Wnt/?-catenin signaling, a pathway linked to leukaemic cell proliferation. '), ('6547', 'AE3_AE1', 'del(3)(q11) / ', 'AE3', 'AE1', '11165320', '23', 'squamous cell carcinoma\r\r', '', '', '', '', '', '', '', '', '(2) immunohistochemical staining using antibodies (AE1/AE3, CAM5.2 and MAK 6) which show the presence of cytokeratin intermediate filaments. '), ('6548', 'MBR_BCL2', '', 'MBR', 'BCL2', '8667654', '23', 'chronic lymphocytic leukemia;non Hodgkin lymphoma;leukemia;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Two patients, including one with a BCL2-MBR/JH junction, lacked obvious recombination of the 5\'-BCL2 with IG genes, suggesting the presence of a deletion at the 5\'-BCL2. '), ('6549', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '26555285', '23', 'leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We developed an NGS-based BCR-ABL1 mutation test on the Ion Torrent Personal Genome Machine (PGM) to test for resistance mutations, primarily in the kinase domain in BCR-ABL1.     ///    \"Detection of BCR-ABL1 mutations that confer tyrosine kinase inhibitor resistance using massively parallel, next generation sequencing.. \"    ///    The advantages of NGS make it a superior method for inventorying BCR-ABL1 resistance mutations. '), ('6550', 'TSC2_TSC1', '16p13.3 / ', 'TSC2', 'TSC1', '14756965', '23', 'tuberous sclerosis', 'PCR', '', '', 'Tumor_suppressor', '', '', '', '', 'Mutations found in this study were distributed on various exons and there was no clustering of the mutations, the widespread distribution of TSC1/TSC2 mutations hinders the development of a simple diagnostic test, and the identification of individual mutations does not provide prediction of prognosis.. '), ('6551', 'EML4_ALK', '', 'EML4', 'ALK', '24706829', '23', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Crystal structure of EML1 reveals the basis for Hsp90 dependence of oncogenic EML4-ALK by disruption of an atypical ?-propeller domain..     ///    The Hsp90-sensitive EML4-ALK variants are exceptions to the rule that oncogenic fusion proteins involve breakpoints in disordered regions of both partners.     ///    Mapping the characteristic breakpoints of each EML4-ALK variant onto our structure indicates that the EML4 TAPE domain is truncated in many variants in a manner likely to make the fusion protein structurally unstable. '), ('6552', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '26787895', '23', 'pleomorphic adenoma\r\r', '', '', '', '', '', '', '', '', 'In this study, we explored transcriptional differences among leiomyomas harboring different genetic drivers, including high mobility group AT-hook 2 (HMGA2) rearrangements, mediator complex subunit 12 (MED12) mutations, biallelic inactivation of fumarate hydratase (FH), and collagen, type IV, alpha 5 and collagen, type IV, alpha 6 (COL4A5-COL4A6) deletions. '), ('6553', 'TNFRSF10D_DCR2', '8p21.3 / ', 'TNFRSF10D', 'DCR2', '18460741', '23', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Significantly reduced expression was observed for two protein phosphatase subunit genes (PPP2CB, PPP3CC) and two TRAIL decoy receptors (TNFRSF10C/DcR1, TNFRSF10D/DcR2), but not for the three established candidates nor for TRAIL death receptor genes. '), ('6554', 'EMD_FLN1', '', 'EMD', 'FLN1', '10713889', '23', '', '', '', '', '', '', '', '', '', 'Examples are the submicroscopic inversions of factor VIII, of the IDS gene and of the FLN1/emerin region, all resulting from misalignment of inverted repeats, and double recombination. '), ('6555', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '24989277', '23', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The apoptotic rate of kasumi-1 cells increased in a dose- and time-dependent ways, and the mRNA levels of AML1-ETO, KIT, MYC, CCND1, BCL2, MDM2 decreased in kasumi-1 cells treated with UA, as well as the protein levels.     ///    \"Lastly, the expression of AML1-ETO, KIT, MYC, CCND1, BCL-2, P53, BAX, MDM2 and protein were detected by using real-time quantitative PCR and Western blot respectively. \"'), ('6556', 'ROS1_CEP85L', '', 'ROS1', 'CEP85L', '27153396', '23', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We establish the oncogenic potential of ROR1-DNAJC6 and CEP85L-ROS1 fusions by showing that they can promote cell proliferation in?vitro and tumor formation in?vivo. '), ('6557', 'RET_PTC', '', 'RET', 'PTC', '9589668', '23', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'To investigate the frequency of RET rearrangement in Chinese papillary thyroid carcinomas, we have performed RT-PCR to amplify specific RET/PTC transcripts.     ///    \"Although the cause of the high frequency of RET/PTC oncogenes in Chinese papillary thyroid carcinomas is unknown, our study suggests that RET rearrangement is an important genetic lesion underlying the development of thyroid papillary carcinoma in Taiwan.. \"    ///    \"Among the papillary thyroid carcinomas of 11 patients examined, we have identified 2 containing RET/PTC1, 3 containing RET/PTC2, and 1 containing RET/PTC3 oncogenes. \"    ///    \"Rearrangement of the RET kinase domain to 3 partner genes has been described, of which the RET/PTC1 is the most common. \"'), ('6558', 'LILRB3_LILRA6', '6p21.3 / ', 'LILRB3', 'LILRA6', '26730743', '23', '', 'PCR', '', '', '', '', '', '', '', 'Six putative CNVRs overlapping GRM5, MICA/HCP5/HCG26, LILRB3/LILRA6, DPY19L2, RNase3/RNase2 and GOLPH3 genes were jointly identified by PennCNV and cnvPartition. '), ('6559', 'PDGFRA_FIP1L1', 't(4;10)  / t(4;10)(q12;p11) / ', 'PDGFRA', 'FIP1L1', '16787876', '23', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The FIP1-like 1 (FIP1L1)-platelet-derived growth factor receptor alpha (PDGFRalpha) fusion transcript was found with the reverse transcriptase polymerase chain reaction analysis. '), ('6560', 'AE3_AE1', '2p24.1 / 7p12.3 / ', 'AE3', 'AE1', '14984937', '23', 'neuroectodermal tumor\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Immunohistochemical stainings of the tumor with antibodies against O-13 (MIC/CD99), NSE, GFAP, S-100, cytokeratin AE1/AE3, desmin, NF, and AFP were performed.     ///    \"Immunohistochemical stainings of PPNET of the ovary showed positive reaction for O-13 (MIC2/CD99) and NSE, but negative for GFAP, S-100, cytokeratin AE1/AE3, desmin, NF, and AFP. \"'), ('6561', 'PAX3_FOXO1', '11p15.5 / ', 'PAX3', 'FOXO1', '25768946', '23', 'rhabdomyosarcoma;sarcoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'Moreover we predict that the PAX3-FOXO1 fusion event occurs earlier than the whole genome duplication. '), ('6562', 'MODY_HNF1B', '', 'MODY', 'HNF1B', '19417042', '23', 'cataract;coloboma;common variable immunodeficiency;diabetes', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'We aimed to investigate detailed clinical features and the type of HNF1B gene anomaly in five pediatric cases with HNF1B-MODY. '), ('6563', 'TRAF1_ALK', 't(2;5)(p23;q35) / ', 'TRAF1', 'ALK', '26187744', '23', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Non-allele-specific ALK RT-qPCR revealed ALK overexpression and 5\' RACE PCR revealed that the patient\'s lymphoma expressed a TRAF1-ALK fusion.     ///    Detection of a TRAF1-ALK fusion in an anaplastic large cell lymphoma patient with chemotherapy and ALK inhibitor-resistant disease..     ///    We report the case of an ALCL patient whose tumor harbored the newly recognized TRAF1-ALK fusion and describe the clinical outcome after treatment with an ALK inhibitor. '), ('6564', 'MYH11_CBFB', 'inv(16) / ', 'MYH11', 'CBFB', '24452154', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We report a 40-year-old woman diagnosed as having acute myeloid leukemia with CBFB-MYH11. '), ('6565', 'IDH2_IDH1', 't(15;17)  / ', 'IDH2', 'IDH1', '24135052', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'The status of miR-124-1 expression was not correlated with the mutations of nine genes (FLT3-ITD, NPM1, C-KIT, IDH1/IDH2, DNMT3A, N/K-RAS and C/EBPA). '), ('6566', 'ETV6_CBFA2', 't(12;21) / t(12;21)  / ', 'ETV6', 'CBFA2', '10634640', '23', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Several different CBFA2 fusion transcripts were expressed in the myeloid 32Dcl3 cell line, and show that unlike the myeloid specific fusion transcripts, the lymphoid specific ETV6/CBFA2 transcript is not compatible with myeloid cell differentiation.     ///    It is shown that myeloid cells expressing the ETV6/CBFA2 transcript undergo apoptosis in response to a G-CSF differentiation signal. '), ('6567', 'TEL_AML1', '', 'TEL', 'AML1', '12828580', '23', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '21) rearrangement by detection of TEL-AML1 transcript in patients with childhood ALL.     ///    \"The patients with BCR-ABL, chromosome 11q23 rearrangement and T-ALL patients did not express TEL-AML1 transcripts. \"    ///    \"Although TEL-AML1 transcripts disappeared soon after the beginning of chemotherapy in three of the five patients, one patient continued to express them for up to 21 months without recurrence and remained in continuous complete remission for seven years after the cessation of chemotherapy. \"    ///    Persistence of TEL-AML1 transcript in acute lymphoblastic leukemia in long-term remission..     ///    \"TEL-AML1 transcripts were searched for in 34 ALL patients, including six in relapse consecutively diagnosed at our institution between 1991 and 1997. \"    ///    Further studies are needed to evaluate the relation between the TEL-AML1 transcript and prognosis..     ///    \"Moreover, MRD in five patients with TEL-AML1 transcripts were analyzed in serial samples. \"    ///    TEL-AML1 transcripts were found in five (19%) of 27 patients with B precursor ALL.     ///    \"For most patients, the presence of TEL-AML1 transcripts suggests excellent chemosensitivity and a favorable prognosis, but some patients with these transcripts have a different outcome. \"    ///    The prognostic significance of TEL-AML1 transcript remains controversial.     ///    The present study suggests the possibility that a persistence of MRD is not necessarily related to a relapse of ALL with TEL-AML1 fusion. '), ('6568', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / ', 'RUNX1T1', 'RUNX1', '26635039', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A complete molecular remission was defined as a (RUNX1-RUNX1T1/ABL1)?100 ?? 0.001%. '), ('6569', 'RAGE_AGE', '6p21.3 / ', 'RAGE', 'AGE', '27188863', '23', '', 'PCR', '', '', '', '', '', '', '', 'However, studies concerning AGE-RAGE interaction in obesity are limited and the results are conflicting. '), ('6570', 'IDH2_IDH1', 't(8;21)  / ', 'IDH2', 'IDH1', '23582927', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'The status of miR-378 expression was not correlated with the mutations of eight genes (FLT3-ITD, NPM1, C-KIT, IDH1/IDH2, DNMT3A, C/EBPA and U2AF1). '), ('6571', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '25861270', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'AML1-ETO translocation is usually accompanied by overexpression of mutant C-Kit, a tyrosine kinase, which contributes to uncontrolled proliferation of premature blood cells leading to relapse and poor prognosis.     ///    Esculetin decreases the expression of AML1-ETO at both protein and transcript level within 24 hours of treatment.     ///    Esculetin Downregulates the Expression of AML1-ETO and C-Kit in Kasumi-1 Cell Line by Decreasing Half-Life of mRNA..     ///    Half-life of AML1-ETO mRNA was reduced from 7 hours to 1.5 hours.     ///    Esculetin also perturbed the expression of ectopically expressed AML1-ETO in U937 cells.     ///     One of the most frequent genetic aberrations in acute myeloid leukemia (AML) is chromosomal translocation between AML1/RUNX1 on chromosome 21 and ETO gene on chromosome 8 resulting in the expression of chimeric oncogene AML1-ETO.     ///    \"The decreased expression of AML1-ETO chimeric gene was associated with increased expression of LAT1 and RUNX3 genes, targets of AML1. \"'), ('6572', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '26333776', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Notably, long-term treatment of cells with Wnt3a induces the generation a frequent RUNX1-ETO translocation event. '), ('6573', 'MDM2_CDK2', 't(11;14)(q13;q32) / ', 'MDM2', 'CDK2', '19594747', '23', 'mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'CDK2/MDM2 gains and CDKN2A/TP53 losses correlated with an unfavourable outcome. '), ('6574', 'TP53_CDKN2A', 't(11;14)(q13;q32) / ', 'TP53', 'CDKN2A', '19594747', '23', 'mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'CDK2/MDM2 gains and CDKN2A/TP53 losses correlated with an unfavourable outcome. '), ('6575', 'GTL2_DLK1', '', 'GTL2', 'DLK1', '20179077', '23', '', '', '', '', '', '', '', '', '', 'We describe an identical 1.11 Mb heterozygous deletion of 14q32.2 including the DLK1/GTL2 imprinted gene cluster in two unrelated patients. '), ('6576', 'P-gp_MDR1', 't(15;17)  / t(8;21)  / inv(16) / t(16;16)  / ', 'P-gp', 'MDR1', '17688368', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'MDR1/P-gp overexpression is frequently observed in hematological malignancies, especially in acute leukemia, and has been reported to correlate with poor prognosis in acute myeloid leukemia (AML). '), ('6577', 'BCL2_IGH', '', 'BCL2', 'IGH', '12574844', '23', 'sialoadenitis', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The bcl-2/IgH translocation at the major breakpoint region was detected in 1 case (16%). '), ('6578', 'PML_RARA', 't(3;21)(q26;q22) / t(15;17)(q22;q21) / ', 'PML', 'RARA', '19027486', '23', 'acute promyelocytic leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The rearranged gene created by this translocation encodes a chimeric protein PML-RARA that is a transcriptional repressor. '), ('6579', 'IGH_BCL2', '', 'IGH', 'BCL2', '8667654', '23', 'chronic lymphocytic leukemia;non Hodgkin lymphoma;leukemia;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Comigration analysis with probes for the IG heavy chain gene (IGH), kappa-chain gene (IG kappa) and lambda-chain gene (IG lambda), demonstrated a 5\'-BCL2/IGH junction at the JH region in four patients with NHL derived from follicular center B cell.     ///    Molecular cloning of a 5\'-BCL2/IGH junction demonstrated recombination of the two affected genes in divergent orientation. '), ('6580', 'IG_BCL2', '', 'IG', 'BCL2', '8667654', '23', 'chronic lymphocytic leukemia;non Hodgkin lymphoma;leukemia;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A 5\'-BCL2/IG kappa junction was observed in two patients with immunoblastic lymphoma, and one with CLL had a 5\'-BCL2/IG lambda recombination. '), ('6581', 'SMRT_NCOR1', 't(12;21)(p13;q22) / ', 'SMRT', 'NCOR1', '18767146', '23', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Differential expression of the retinoic acid target genes, RARB, CRABP1, and CRABP2, indicated that deletion of TBL1XR1 compromised the function of SMRT/N-CoR in the appropriate control of gene expression. '), ('6582', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '12456315', '23', 'T cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Furthermore, identification of relevant protooncogenes and tumor suppressor genes involved in the pathogenesis of T-cell NHL such as the NPM/ALK fusion protein, p53, cyclin dependent kinase inhibitors (p15, p16, p21) and EBV as well as their interplay with the various regulatory pathways of cell cycle progression and apoptosis represent potential candidates for molecular-based therapy. '), ('6583', 'VCFS_DGS', '', 'VCFS', 'DGS', '18342595', '23', '', '', '', '', '', '', '', '', '', 'Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.. '), ('6584', 'ABL1_ABL1', 't(9;22) / ', 'ABL1', 'ABL1', '22248505', '23', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Minimal residual disease was monitored by RQ-PCR for the BCR-ABL1/ABL ratio. '), ('6585', 'RUNX1T1_RUNX1', 'inv(16)  / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '25111512', '23', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'OS was not significantly different between CBF?/MYH11 (n=62) and RUNX1/RUNX1T1 (n=144), and auto-HSCT showed favorable OS compared with allo-HSCT or chemotherapy alone. '), ('6586', 'RAP1_GAP', '1p36.1 / ', 'RAP1', 'GAP', '9373716', '23', 'melanoma\r\r', '', '', '', '', '', '', '', '', 'Rap1-GAP protein was detected in 15/19 subsequently recurring primary melanomas (79%) but only in 32/67 tumors (47%) of patients who remained free of disease (P < 0.05) for at least 6 years.     ///    In the latter group the frequency of Rap1-GAP expression increased (P < 0.05) with the thickness of primary tumors and was highest in metastatic lesions.     ///    In the present immunohistochemical study we analyzed the clinicopathological and prognostic relevance of Rap1-GAP expression in 60 benign and 103 malignant melanocytic tumors.     ///    \"Although being no indicator for malignant transformation of melanocytic lesions, Rap1-GAP overexpression may represent a useful marker for identifying thin high-risk melanomas. \"    ///    Clinicopathological and prognostic relevance of Rap1-GAP expression in melanocytic tumors..     ///    \"Cytoplasmic expression of Rap1-GAP has also been observed in the cells of skin appendages and in keratinocytes, particularly in suprabasal layers of the epidermis. \"    ///    \"Therefore, Rap1-GAP is likely to be associated with cellular growth and/or differentiation. \"    ///    \" Rap1-GAP protein has been identified as an inactivator of Rap1 activity, a putative endogenous antagonist of Ras proteins. \"'), ('6587', 'BCR_ABL1', 'del(20q)  / ', 'BCR', 'ABL1', '19624538', '23', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' A retrospective comparison of WT1 and BCR-ABL1 expression was performed in 40 imatinib-treated chronic myeloid leukaemia patients.     ///    In two patients WT1 expression was increasing despite very low BCR-ABL1 levels.     ///    The overall correlation of WT1 and BCR-ABL1 was low. '), ('6588', 'GTL2_DLK1', '11p15.5 / ', 'GTL2', 'DLK1', '15677533', '23', '', 'PCR', '', '', '', '', '', '', '', 'LOI does not occur at the GTL2/DLK1 domain in Wilms tumour.     ///    The GTL2/DLK1 domain is also imprinted and is structurally similar to H19/IGF2. '), ('6589', 'RNase3_RNase2', '6p21.3 / ', 'RNase3', 'RNase2', '26730743', '23', '', 'PCR', '', '', '', '', '', '', '', 'Six putative CNVRs overlapping GRM5, MICA/HCP5/HCG26, LILRB3/LILRA6, DPY19L2, RNase3/RNase2 and GOLPH3 genes were jointly identified by PennCNV and cnvPartition. '), ('6590', 'DMD_BMD', '', 'DMD', 'BMD', '19040728', '23', '', '', '', '', '', '', '', '', '', 'We studied 12 DMD/BMD patients who either had no detectable mutations or carried previously identified quantitative pathogenic changes in the DMD gene. '), ('6591', 'BCR_ABL1', '', 'BCR', 'ABL1', '25057418', '23', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Same BCR-ABL1 fusion transcript with minor breakpoint was present in both the lymph node and marrow specimens.     ///    Case 2 is the first reported case of T-lymphoblastic CML-BP harboring BCR-ABL1 transcript with a minor breakpoint. '), ('6592', 'TIS7_PC4', '3p21.3 / ', 'TIS7', 'PC4', '9050919', '23', 'small cell lung cancer', 'PCR', '', '', '', '', '', '', '', 'In addition, the known partial sequence of the putative mouse interferon beta2 (64 amino acids) gene is highly conserved in PC4/TIS7 (94%) and in SKMc15 (83%) at the amino acid level. '), ('6593', 'PTEN_PI3K', '7p15.2 / ', 'PTEN', 'PI3K', '24154570', '23', '', 'PCR', '', '', 'Tumor_suppressor', '', '', '', '', 'Our findings revealed a possible involvement of the PTEN-PI3K/Akt-Bad axis in the pathogenesis of endometriosis, which may facilitate the discovery of suitable pathway inhibitors for disease treatment.     ///    \"In future investigations, a larger sample size should be used and the role of the other genes involved in the PTEN-PI3K/Akt signal transduction pathway should be analyzed. \"    ///    \" Are mutations in the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene associated with endometriosis? Loss of heterozygosity (LOH) at the 10q23.3 locus, PTEN somatic mutations and changes in the levels and distribution of proteins in the PTEN-PI3K/Akt signal transduction pathway are associated with endometriosis. \"'), ('6594', 'MEK_ERK', '', 'MEK', 'ERK', '22140652', '23', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'In NIH 3T3 cells, UBE2L3-KRAS attenuates MEK/ERK signaling, commonly engaged by oncogenic mutant KRAS, and instead signals via AKT and p38 mitogen-activated protein kinase (MAPK) pathways. '), ('6595', 'TRKA_NGF', 't(8;21)  / t(8;21) / ', 'TRKA', 'NGF', '15731354', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'NGF, which is normally expressed by bone marrow stromal cells, could provide important proliferative or survival signals to AML1-ETO-expressing leukemic or preleukemic cells, and the NGF/TRKA signaling pathway may be a suitable target for therapeutic approaches to AML.. '), ('6596', 'DMD_BMD', '', 'DMD', 'BMD', '2569720', '23', 'Duchenne and Becker muscular dystrophies', '', '', '', '', '', '', '', '', 'This exon is one of the most frequently deleted exons in BMD/DMD patients and its sequence is applied in a pilot study for diagnostic deletion screening using Polymerase Chain Reaction amplification.. '), ('6597', 'BP2_BP1', '', 'BP2', 'BP1', '22842191', '23', '', '', '', '', '', '', '', '', '', 'Here we report the clinical and molecular characterisation of a maternally inherited BP1-BP2 deletion in two siblings with intellectual, motor and speech delay, autistic syndrome disorder and several dysmorphic features.     ///    Our results suggest that BP1-BP2 deletion could be considered as a risk factor for neuropsychological phenotypes and that it presents with variable clinical expressivity..     ///    \"15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. \"'), ('6598', 'Immunoglobulin _BCL2', '', 'Immunoglobulin ', 'BCL2', '26319783', '23', 'follicular lymphoma;multiple myeloma;mantle cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We then compared the two approaches in 69 patients with a documented molecular marker at diagnosis (18 multiple myelomas, 21 mantle cell lymphomas assessed with the immunoglobulin gene rearrangement, and 30 follicular lymphomas with the use of the BCL2/immunoglobulin gene major breakpoint region rearrangement). '), ('6599', 'BP2_BP1', '', 'BP2', 'BP1', '24239951', '23', '', '', '', '', '', '', '', '', '', 'In one case, the marker had a smaller size and contained only the BP1-BP2 region. '), ('6600', 'MTS2_MTS1', '', 'MTS2', 'MTS1', '7994022', '23', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In 1 B-lineage case, a germline pattern was found at presentation and a possible monoallelic MTS1/MTS2 deletion was observed at relapse. '), ('6601', 'ROR1_DNAJC6', '', 'ROR1', 'DNAJC6', '27153396', '23', '', '', 'Kinase', '', '', '', '', '', '', 'We establish the oncogenic potential of ROR1-DNAJC6 and CEP85L-ROS1 fusions by showing that they can promote cell proliferation in?vitro and tumor formation in?vivo. '), ('6602', 'BCR_ABL1', '', 'BCR', 'ABL1', '1518145', '23', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Ph1 constricts ABL/BCR within M-BCR in CML and in one half of the adult Ph1 AL. '), ('6603', 'IDH2_IDH1', 't(8;21) / t(8;21)  / ', 'IDH2', 'IDH1', '25550847', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'The levels of miR-24 expression had no correlation with the mutations of nine genes (FLT3-ITD, NPM1, C-KIT, IDH1/IDH2, DNMT3A, N/K-RAS and C/EBPA). '), ('6604', 'HSP_AR', '', 'HSP', 'AR', '25398481', '23', 'autosomal recessive hereditary spastic paraplegia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', '1450-446_1779?+?746 delinsAAAGTGCT) encompassing exons 11 to 13, identified in a Spanish AR-HSP family.     ///     Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia (AR-HSP). '), ('6605', 'GAPDH_FHIT', '3p14.2 / ', 'GAPDH', 'FHIT', '16800968', '23', 'squamous cell carcinoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The FHIT/GAPDH mRNA level was less in squamous cell carcinoma (0.144 +/- 0.246), a smoking-related cancer, than in adenocarcinoma (0.72 +/- 1.321.     ///    n = 57) was significantly worse than in the patients with high FHIT/GAPDH levels (> 0.26.     ///    \"No significant difference in FHIT/GAPDH mRNA levels was found among age, T status, or lymph node metastasis. \"    ///    The FHIT/glyceraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA levels were decreased in tumor tissues from lung cancer (13.844 +/- 33.047) compared with adjacent nonmalignant lung tissues (195.763 +/- 678.469.     ///    The prognosis for patients with lung cancer with low FHIT/GAPDH levels (< 0.26.     ///    FHIT/GAPDH mRNA levels were correlated with FHIT protein (P = 0.0139) and p21 protein (P = 0.0484) expression by immunohistochemistry. '), ('6606', 'CA4_CA1', '19p13.3 / ', 'CA4', 'CA1', '15722182', '23', '', 'PCR', '', '', '', '', '', '', '', 'In situ hybridization data shows that NR3B mRNA is expressed in the human hippocampal formation (CA1-CA4 and dentate gyrus) and adjacent neocortex. '), ('6607', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15362967', '23', 'thyroid carcinoma;papillary carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We investigated in a series of thyroid samples, including 14 normal, 13 hyperfunctioning tissues, 26 follicular adenomas, 21 follicular and 41 papillary carcinomas, both the frequency of the PAX8-PPARgamma1 rearrangement and the expression of the PAX8 and PPARgamma transcripts.     ///    \"Immunohistochemistry showed that nuclear PPARgamma staining was weak in normal tissues, adenomas, papillary carcinomas and in some follicular carcinomas, and strong in the follicular carcinomas positive for the PAX8-PPARgamma1 translocation, but also in some follicular tumors in which no translocation could be evidenced. \"'), ('6608', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '7723412', '23', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This parental bias led to the hypothesis that the genes disrupted by the translocation, BCR and ABL, were themselves imprinted, and that in CML the BCR-ABL gene was formed by BCR sequences of maternal and ABL sequences of paternal origin. '), ('6609', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '15677533', '23', '', 'PCR', '', '', '', '', '', '', '', ' Loss of imprinting (LOI) of the H19/IGF2 domain is a common feature of Wilms tumour.     ///    \"The question arises as to whether DLK1 also undergoes LOI in Wilms tumour, or whether the LOI mechanism is restricted to the H19/IGF2 domain. \"    ///    The GTL2/DLK1 domain is also imprinted and is structurally similar to H19/IGF2. '), ('6610', 'BCR_ABL1', '', 'BCR', 'ABL1', '10865410', '23', 'leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In these BCR/ABL transcript positive cases, the incidence of BCR exon3/ABL exon2 (B3A2) and BCR exon 2/ABL exon2 rearrangement was 25 (89.3%) and 3 (10.7%) cases, respectively. '), ('6611', 'RUNX1T1_ABL1', 't(8;21)(q22;q22) / ', 'RUNX1T1', 'ABL1', '26635039', '23', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'A complete molecular remission was defined as a (RUNX1-RUNX1T1/ABL1)?100 ?? 0.001%. '), ('6612', 'MYH11_CBFB', 't(8;21)  / inv(16)  / ', 'MYH11', 'CBFB', '14645432', '22', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We quantified MRD at various time points during and after therapy by real-time reverse transcriptase polymerase chain reaction (RT-PCR) for AML1/MTG8 and CBFB/MYH11 in 37 patients with CBF leukemias treated within a multicenter trial. '), ('6613', 'ZC3H7B_BCOR', '', 'ZC3H7B', 'BCOR', '24285434', '22', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', '', 'Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.    ///    Two novel fusions were identified ZC3H7B-BCOR in OFMT1 and MEAF6-PHF1 in OFMT3.    ///    ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant OFMT.     ///    \"Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.. \"'), ('6614', 'RET_PTC4', '', 'RET', 'PTC4', '8806699', '22', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'To characterize the product of this new oncogenic ELE1/RET rearrangement, here designated as RET/PTC4, we performed an immunoprecipitation and Western blot analysis on cell extracts from NIH3T3 transfectants.     ///    \"Alternatively, targeted radiation effects could be responsible for the atypical RET rearrangement producing RET/PTC4 oncogene.. \"    ///    \"Molecular and biochemical analysis of RET/PTC4, a novel oncogenic rearrangement between RET and ELE1 genes, in a post-Chernobyl papillary thyroid cancer.. \"'), ('6615', 'ELE1_RET', '', 'ELE1', 'RET', '10741739', '22', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A high prevalence of RET gene rearrangements (62.3%) with a significant predominance of ELE1/RET (PTC3) over H4/RET (PTC1) rearrangements was found in PTCs of the first post-Chernobyl decade.    ///    A high prevalence of RET gene rearrangements (62.3%) with a significant predominance of ELE1/RET (PTC3) over H4/RET (PTC1) rearrangements was found in PTCs of the first post-Chernobyl decade.     ///    \"In 3.3%, we observed novel types of RET rearrangements: GOLGA5/ RET (PTC5), HTIF/RET (PTC6), RFG7/RET (PTC7), and an as yet undefined RFGX/RET.RET rearrangements, preferentially ELE1/RET, are related to rapid tumor development.\"    ///    \"At longer intervals after exposure to ionizing radiation, the prevalence of RET rearrangements declines with a shift from ELE1/RET to H4/RET, most significantly in female patients. \"    ///    \"A significantly higher prevalence of ELE1/RET was observed in the most heavily contaminated Oblasts, Gomel and Brest, suggesting a preferential formation of this type of rearrangement after high thyroid doses. \"    ///    \"In 3.3%, we observed novel types of RET rearrangements: GOLGA5/ RET (PTC5), HTIF/RET (PTC6), RFG7/RET (PTC7), and an as yet undefined RFGX/RET.RET rearrangements, preferentially ELE1/RET, are related to rapid tumor development. \"    ///    \"ELE1/RET is related to the solid variant of PTC, H4/RET more frequently to typical papillary structures. \"'), ('6616', 'MEAF6_PHF1', '', 'MEAF6', 'PHF1', '24285434', '22', 'endometrial stromal sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant OFMT.    ///    Two novel fusions were identified ZC3H7B-BCOR in OFMT1 and MEAF6-PHF1 in OFMT3.     ///    \"Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.. \"'), ('6617', 'PAX7_FKHR', 't(2;13)(q35;q14) / p36;q14 / ', 'PAX7', 'FKHR', '18988640', '22', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'PAX3 -FKHR and PAX7-FKHR transcripts were positive in 4/8 and 2/8 cases of ARMS, respectively. '), ('6618', 'PAX3_FKHR', 't(2;13)(q35;q14) / p36;q14 / ', 'PAX3', 'FKHR', '18988640', '22', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'PAX3 -FKHR and PAX7-FKHR transcripts were positive in 4/8 and 2/8 cases of ARMS, respectively. '), ('6619', 'PAX3_NCOA1', 't(2;2)  / t(2;8)  / t(2;13)(q35;q14) / t(1;13)(p36;q14) / t(2;2)(p23;q35) / t(2;8)(q35;q13) / ', 'PAX3', 'NCOA1', '19953635', '22', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The PAX3-NCOA1 and PAX3-NCOA2 transcripts encode chimeric proteins composed of the paired-box and homeodomain DNA-binding domains of PAX3, and the CID domain, the Q-rich region, and the activation domain 2 (AD2) domain of NCOA1 or NCOA2.     ///    \"The PAX3-NCOA1 and PAX3-NCOA2 transcripts encode chimeric proteins composed of the paired-box and homeodomain DNA-binding domains of PAX3, and the CID domain, the Q-rich region, and the activation domain 2 (AD2) domain of NCOA1 or NCOA2.\"'), ('6620', 'MLL_ENL', '', 'MLL', 'ENL', '17268512', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'MLL translocations were found in 79% of infants, involving MLL-AF4 (41%), MLL-ENL (18%), MLL-AF9 (11%) or another MLL partner gene (10%). '), ('6621', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '24993903', '22', 'bone cancer', '', '', '', '', '', '', '', 'Seq', 'Ewing sarcoma is molecularly defined by a fusion of the EWSR1 gene (or rarely the related FUS gene) to a member of the E26 transformation-specific (ETS) family of transcription factors, frequently the EWSR1-FLI1 fusion. '), ('6622', 'MLL_AF10', '', 'MLL', 'AF10', '17927867', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR. '), ('6623', 'BCL2_IGH', '', 'BCL2', 'IGH', '16765702', '22', 'MALT lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Ophthalmologic and radiographic examinations, routine histology, immunohistochemistry, and molecular analysis for immunoglobulin heavy chain (IgH), bcl-2/IgH gene translocation, and Chlamydia genes were performed. '), ('6624', 'CALM_AF10', '', 'CALM', 'AF10', '21880637', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Patients were also investigated for NOTCH1, FBXW7, WT1, and JAK1 mutations together with CALM-AF10, SET-NUP214, and SIL-TAL1 gene rearrangements.     ///    \"NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively. \"'), ('6625', 'NFIB_MYB', 't(11;19)(q12;p13) / t(6;9)(q22-23;p23-24) / t(15;19) / 19p13.1 / ', 'NFIB', 'MYB', '21238915', '22', 'adenoid cystic carcinoma;mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'The MYB-NFIB fusion transcript, present in at least one third of salivary ACCs, can be detected by new reverse transcription polymerase chain reaction screening methods, and has emerged as a potential therapeutic target. '), ('6626', 'CD8_CD4', '', 'CD8', 'CD4', '1328877', '22', '', '', '', '', '', '', '', '', '', 'However, significant differences between the TCR alpha and beta gene rearrangement were observed, suggesting that these sublines have undergone further differentiation at TCR loci in addition to CD4/CD8 and MHC loci.     ///    \"Furthermore, S49 sublines were found to display disparate CD4/CD8 expression. \"'), ('6627', 'BCR_ABL1', '', 'BCR', 'ABL1', '23940019', '22', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The distribution of common genetic abnormalities was similar to that reported from western populations, with 24.6% hyperdiploidy, 21% RUNX1-ETV6 positivity, 4.2% BCR-ABL1 positivity, and 2.5% with MLL gene rearrangement. '), ('6628', 'CD10_BCP', '', 'CD10', 'BCP', '12446447', '22', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Interestingly, the novel CD34(+)CD19(+)CD10(-) BCP appears to be the normal counterpart of circulating preleukemic BCPs that undergo chromosomal translocations in utero months or years before their promotion into infant acute lymphoblastic B-cell leukemia after secondary postnatal mutations.     ///    \"Here, conventional CD34(+)CD19(+)CD10(+) and novel CD34(+)CD19(+)CD10(-) BCP populations are characterized in CB by single-cell sorting and multiplex analyses of gene expression patterns. \"'), ('6629', 'CD8_CD4', '', 'CD8', 'CD4', '19261011', '22', 'cutaneous T cell lymphoma', '', '', '', '', '', '', '', '', 'Treatment with systemic steroids, age, serum lactate dehydrogenase, and white blood cell count >or= 20,000 microL were significant prognostic factors, but large cell transformation, T-cell receptor gene rearrangement, tumor-node-metastasis stage, treatments, and CD4 : CD8 ratio were not. '), ('6630', 'IL6_IL10', '', 'IL6', 'IL10', '22661396', '22', 'lymphoma', '', '', '', '', '', '', '', '', 'The detection rates of malignant cytology, IL-10/IL-6 ratio greater than 1.0, and IgH gene rearrangements in vitreous specimens were 44.5, 91.7, and 80.6 %, respectively, of patients tested.     ///    \"IL-10/IL-6 ratio greater than 1.0 had the highest overall detection rate, and was extremely high (?90 %) in patients with or without vitreous opacification. \"');
INSERT INTO `ChimerPub_dump` VALUES ('6631', 'NUT_BRD4', 't(11;19)(q12;p13) / t(6;9)(q22-23;p23-24) / t(15;19) / 19p13.1 / ', 'NUT', 'BRD4', '21238915', '22', 'adenoid cystic carcinoma;mucoepidermoid carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Because NMC lacks characteristic clinicopathologic features and established therapeutic options, the BRD4-NUT fusion transcript may represent both a diagnostic marker and an optimal target for disease-specific drug therapy. '), ('6632', 'IGH_CCND1', '', 'IGH', 'CCND1', '23929122', '22', 'composite lymphoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Both lymphomas carried the same CCND1/IGH translocation and, unexpectedly for HL, expressed cyclin D1 and OCT2. '), ('6633', 'FLI1_BCR', 't(11;22)(q24;q12) / ', 'FLI1', 'BCR', '23441188', '22', 'ewing sarcoma;leukemia;sarcoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Characterization of the EWS-FLI1 fusion sites of 42 pediatric and young adult Ewing sarcoma patients and seven cell lines revealed a clustering in the 5\' region of the EWS-breakpoint cluster region (BCR), in contrast to random distribution of breakpoints in the FLI1-BCR. '), ('6634', 'RARA_PL', 't(15;17) / t(15;17)  / ', 'RARA', 'PL', '8695858', '22', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Molecular analysis for the promyelocytic leukemia-retinoic acid receptor alpha (PML-RAR alpha) hybrid gene at diagnosis was performed in 16 patients by means of reverse transcription-polymerase chain reaction (RT-PCR) analysis, and all were RT-PCR+ for the hybrid gene. '), ('6635', 'TEL_AML1', '', 'TEL', 'AML1', '26925663', '22', 'chronic myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In this study, we developed a multiplex RT-PCR assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2A- PBX1).     ///    \"In addition, other genetic rearrangements detected by the multiplex PCR were 4.21% TEL-AML1 and 2.34% E2A-PBX1, whereas MLL-AF4 exhibited negative results in all tested samples. \"'), ('6636', 'FLI1_EWS', 't(11;22)(q24;q12) / ', 'FLI1', 'EWS', '23441188', '22', 'ewing sarcoma;leukemia;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Characterization of the EWS-FLI1 fusion sites of 42 pediatric and young adult Ewing sarcoma patients and seven cell lines revealed a clustering in the 5\' region of the EWS-breakpoint cluster region (BCR), in contrast to random distribution of breakpoints in the FLI1-BCR. '), ('6637', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23940019', '22', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The distribution of common genetic abnormalities was similar to that reported from western populations, with 24.6% hyperdiploidy, 21% RUNX1-ETV6 positivity, 4.2% BCR-ABL1 positivity, and 2.5% with MLL gene rearrangement. '), ('6638', 'EML4_ALK', '', 'EML4', 'ALK', '22311682', '22', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The biology and clinical features of non-small cell lung cancers with EML4-ALK translocation.. '), ('6639', 'TEL_AML1', '', 'TEL', 'AML1', '9824651', '22', 'precursor B cell leukemia', '', '', '', '', '', '', '', '', ' The TEL/AML1 translocation, which is specific for pre B-cell leukemias is predictive of a favorable treatment outcome.     ///    In contrast to the 25% frequency reported for other regions the low risk molecular subtype characterized by the TEL/AML1 translocation represented a comparatively smaller fraction (4/46) in this study.     ///    Comparative incidence of the rearrangements of TEL/AML1 and ALL1 genes in pediatric precursor B acute lymphoblastic leukemias in India.. '), ('6640', 'PCA_CD19', '', 'PCA', 'CD19', '2024636', '22', 'multiple myeloma\r\r', '', '', '', '', '', '', '', '', 'Ig gene rearrangement was not found in any of the remaining patients who showed no evidence of the presence of CyIg+ cells, although there were CD19/PCA-1 positive cells.     ///    Peripheral mononuclear cells (PBMC) and BePBC were studied immunophenotypically by evaluating the presence of cytoplasmic Ig positive cells (CyIg+) and CD19/PCA-1 reactivity. '), ('6641', 'EML4_ALK', '', 'EML4', 'ALK', '25178493', '22', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Adenocarcinoma of the lung with EML4-ALK translocation is a rare subtype of Non Small-Cell Lung Cancer (NSCLC) that has recently shown to benefit from treatment with crizotinib. '), ('6642', 'Immunoglobulin _BCL2', '', 'Immunoglobulin ', 'BCL2', '16040287', '22', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecularly, 4 of 6 cases demonstrated immunoglobulin heavy chain rearrangements and 1 case, a bcl-2/immunoglobulin heavy chain gene rearrangement. '), ('6643', 'NUT_BRD4', '', 'NUT', 'BRD4', '20395873', '22', '', '', 'Kinase', '', '', '', '', 'KB', '', 'The gene BRD4 is its most common translocation partner, forming a BRD4-NUT fusion oncogene.     ///    BRD4-NUT carcinoma of the mediastinum in a pediatric patient: multidetector computed tomography imaging findings.. '), ('6644', 'ETO_AML1', '', 'ETO', 'AML1', '18719738', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Both groups showed similar characteristics regarding white blood cell counts, cytogenetic data or presence of gene rearrangements associated with good prognosis as AML1-ETO, CBFB-MYH11 and PML/RARA. '), ('6645', 'BCL2_IGH', '', 'BCL2', 'IGH', '7624661', '22', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Special topics are devoted to Ras, erbB2, p 53 and characteristical gene rearrangements, such as bcr-abl, RARA-PML, VDJ, bcl2-IgH. '), ('6646', 'MYC_IGH', '', 'MYC', 'IGH', '22033343', '22', 'leukemia;B cell lymphoma;sarcoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Demonstrating its effectiveness, we successfully estimate the frequency of c-myc/IgH translocations in primary B cells, and identify hotspots of AID-mediated recombination. '), ('6647', 'ETO_AML1', '', 'ETO', 'AML1', '17927867', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR. '), ('6648', 'INK4B_INK4A', '', 'INK4B', 'INK4A', '9890173', '22', 'retinoblastoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Statistically significant associations were observed between INK4A/INK4B deletions (P = .036) or alterations (P = .005) and poor survival. '), ('6649', 'EML4_ALK', '', 'EML4', 'ALK', '25588859', '22', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK translocations are rare events associated with specific clinicopathological features, such as never or light smoking history, young age and adenocarcinoma with signet ring or acinar histology. '), ('6650', 'DUX4_CIC', '', 'DUX4', 'CIC', '24215322', '22', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'A small number of cases sharing the undifferentiated EFT appearance have been characterized recently carrying BCOR-CCNB3 or CIC-DUX4 fusions. '), ('6651', 'NOTCH1_FBXW7', '', 'NOTCH1', 'FBXW7', '24740809', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'A higher specific hazard of relapse was independently associated with postinduction MRD level ?10(-4) and unfavorable genetic characteristics (ie, MLL gene rearrangement or focal IKZF1 gene deletion in BCP-ALL and no NOTCH1/FBXW7 mutation and/or N/K-RAS mutation and/or PTEN gene alteration in T-cell ALL). '), ('6652', 'VE-cadherin_CTNNB1', '', 'VE-cadherin', 'CTNNB1', '11168805', '22', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Basic fibroblast growth factor completely dissociated vascular endothelial cadherin/beta-catenin complexes and robustly moved beta-catenin into the nucleus in CD144 cells, whereas in CD31/CD144 cells as well as in human umbilical vein endothelial cells, fibroblast growth factor only partially dissociated the junctional complex followed by a significantly reduced nuclear translocation of beta-catenin.     ///    \"platelet endothelial cell adhesion molecule-1 reduces and temporarily limits fibroblast growth factor-induced dissociation of vascular endothelial cadherin/beta-catenin complexes, but requires vascular endothelial cadherin to control leukocyte transmigration in dependence of fibroblast growth factor.. \"'), ('6653', 'TCR_CD3', '', 'TCR', 'CD3', '11696446', '22', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In the present study we have analyzed by flow cytometry immunophenotyping the TCR-Vbeta repertoire of 98 consecutive cases of persistent expansions of CD4(+) or CD8(+bright) CD3(+)/TCR-alphabeta(+) LGLs and compared the results with those obtained in molecular studies of TCR-beta gene rearrangements.     ///    Immunophenotypic analysis of the TCR-Vbeta repertoire in 98 persistent expansions of CD3(+)/TCR-alphabeta(+) large granular lymphocytes: utility in assessing clonality and insights into the pathogenesis of the disease.. '), ('6654', 'RET_PTC', '', 'RET', 'PTC', '21544895', '22', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET (rearranged during transfection)/PTC (papillary thyroid carcinoma) gene rearrangements, B-Raf gene mutations, and vascular endothelial growth factor receptor 2 (VEGFR-2) angiogenesis pathways are some of the known genetic alterations playing a crucial role in the development of thyroid cancer. '), ('6655', 'MET_ALK', '', 'MET', 'ALK', '22034911', '22', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Crizotinib, a dual MET/ALK inhibitor, has demonstrated promising clinical activity in patients with non-small-cell lung cancer and inflammatory myofibroblastic tumors harboring ALK translocations. '), ('6656', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '26492182', '22', 'hematological malignancy\r\r', 'PCR;RT-PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'In salivary gland tumor pathology, however, the ETV6-NTRK3 translocation is specific for mammary analogue secretory carcinoma (MASC), and has not been documented in any other salivary tumor type. '), ('6657', 'NUP98_HOXA10', '', 'NUP98', 'HOXA10', '17712416', '22', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Interestingly, an engineered NUP98-HOXA10 (NA10) fusion can induce a several hundred-fold expansion of HSCs in vitro and NA10 and the AML-associated fusion gene NUP98-HOXD13 (ND13) have a virtually indistinguishable ability to transform myeloid progenitor cells in vitro and to induce leukemia in collaboration with MEIS1 in vivo. '), ('6658', 'RET_PTC', '', 'RET', 'PTC', '24510380', '22', 'thyroid carcinoma', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'We have developed a home-brew tetracolor break-apart probe able to simultaneously identify the 2 most common genetic alterations in differentiated thyroid carcinoma: RET/PTC variants in papillary thyroid carcinoma and PAX8/PPARg fusion and variants in follicular thyroid carcinoma.     ///    \"The probe was tested on RET/PTC and PAX8/PPARg RT-PCR positive controls, and feasibility was assessed in 368 thyroid nodule fine-needle aspirations (FNA). \"'), ('6659', 'BP3_BP1', '', 'BP3', 'BP1', '26203302', '22', 'Prader Willi syndrome\r\r', '', '', '', '', '', '', '', '', 'A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father. '), ('6660', 'PDGFRA_BCR', '', 'PDGFRA', 'BCR', '19366796', '22', 'chronic myeloid leukemia;rhabdomyosarcoma;non small cell lung cancer;myeloid leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Activation of PDGFR signaling has been described in gastrointestinal stromal tumors (PDGFRA mutations) as well as in chronic myeloid leukemia (BCR-PDGFRA translocation), and sunitinib can yield clinical benefit in both settings. '), ('6661', 'NFIB_MYB', '', 'NFIB', 'MYB', '26851182', '22', 'adenoid cystic carcinoma\r\r', '', '', '', '', '', '', 'KB', '', ' A majority of adenoid cystic carcinomas (AdCC)-rare tumors of the salivary gland and some other organs-have recently been found to be driven by chromosomal translocations resulting in MYB-NFIB fusions. '), ('6662', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '24893972', '22', 'adenoid cystic carcinoma;pleomorphic adenoma;mucoepidermoid carcinoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'MEC expressed the CRTC1-MAML2, and this fusion was found to be tumour-specific for lacrimal gland MEC. '), ('6663', 'ETO_AML1', '', 'ETO', 'AML1', '19526763', '22', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In the 20 patients treated, 4 case of HCR achieved MBR, the negatively reversed marker gene was AML1/ETO in 1 case, CBFbeta/MYH11 in 1, bcr/abl in 1, and the other 1 was IgH gene rearrangement. '), ('6664', 'IL7R_IL7', '', 'IL7R', 'IL7', '12594950', '22', '', '', '', '', '', '', '', '', '', 'Transient IL-7/IL-7R signaling provides a mechanism for feedback inhibition of immunoglobulin heavy chain gene rearrangements..     ///    \"For the largest V(H)J558 family of genes, this occurs by attenuating IL-7/IL-7R signals in pre-B cells. \"'), ('6665', 'MTGR1_MTG16', '', 'MTGR1', 'MTG16', '22443175', '22', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The observed repression of MTG16/MTGR1 promoters by the leukemia associated AML1-ETO fusion gene may have a role in hematopoietic dysfunction of leukemia. '), ('6666', 'BCR_EWS', 't(11;22)(q24;q12) / ', 'BCR', 'EWS', '23441188', '22', 'ewing sarcoma;leukemia;sarcoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Characterization of the EWS-FLI1 fusion sites of 42 pediatric and young adult Ewing sarcoma patients and seven cell lines revealed a clustering in the 5\' region of the EWS-breakpoint cluster region (BCR), in contrast to random distribution of breakpoints in the FLI1-BCR. '), ('6667', 'RET_PTC', '', 'RET', 'PTC', '12738763', '22', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC (rearranged in transformation/papillary thyroid carcinomas) gene rearrangements are the most frequent genetic alterations identified in papillary thyroid carcinoma.     ///    RET/PTC (rearranged in transformation/papillary thyroid carcinomas) tyrosine kinase phosphorylates and activates phosphoinositide-dependent kinase 1 (PDK1): an alternative phosphatidylinositol 3-kinase-independent pathway to activate PDK1..     ///    RET/PTC and PDK1 colocalize in the cytoplasm.     ///    \"RET/PTC-induced phosphorylation of the Y9 residue results in increased PDK1 activity, decrease of cellular p53 levels, and repression of p53-dependent transactivation. \"    ///    \"Moreover, Y9 phosphorylation of PDK1 by RET/PTC does not require phosphatidylinositol 3-kinase or Src activity. \"    ///    \"In conclusion, RET/PTC-induced tyrosine phosphorylation of PDK1 may be one of the mechanisms by which it acts as an oncogenic tyrosine kinase in thyroid carcinogenesis.. \"    ///    \"In this report, we show that phosphoinositide-dependent kinase 1 (PDK1), a pivotal serine/threonine kinase in growth factor-signaling pathways, is a target of RET/PTC. \"    ///    RET/PTC phosphorylates a specific tyrosine (Y9) residue located in the N-terminal region of PDK1.     ///    Y9 phosphorylation of PDK1 by RET/PTC requires an intact catalytic kinase domain.     ///    \"Although the oncogenic potential of RET/PTC is related to intrinsic tyrosine kinase activity, the substrates for this enzyme are yet to be identified. \"'), ('6668', 'SSX1_SS18', '', 'SSX1', 'SS18', '23205908', '22', 'synovial sarcoma;thyloid cancer;sarcoma;hematologic malignancy\r\r', '', '', '', '', '', '', 'KB', '', 'We present what we believe to be the first report of a synovial sarcoma of the lung with an SS18/SSX1 translocation after RAI therapy. '), ('6669', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '18719738', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Both groups showed similar characteristics regarding white blood cell counts, cytogenetic data or presence of gene rearrangements associated with good prognosis as AML1-ETO, CBFB-MYH11 and PML/RARA. '), ('6670', 'PBX1_E2A', '', 'PBX1', 'E2A', '26925663', '22', 'chronic myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'In this study, we developed a multiplex RT-PCR assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2A- PBX1). '), ('6671', 'MYC_IGH', '', 'MYC', 'IGH', '20352097', '22', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Applying this system to a human cell line, we successfully recapitulated two types of pathogenic chromosomal translocations in human diseases: MYC/IgH and BCR/ABL1. '), ('6672', 'TNS3_PI3K', '', 'TNS3', 'PI3K', '26166433', '22', '', '', '', '', '', '', '', '', '', 'Subsequently, the TNS3-PI3K complex translocates to the leading edge of a migrating cell to promote Rac1 activation, whereas PTEN-DLC1 translocates to the posterior for localized RhoA activation.     ///    \"On epidermal growth factor (EGF) or platelet-derived growth factor (PDGF) stimulation, TNS3 and PTEN are phosphorylated at specific Thr residues, which trigger the rearrangement of the TNS3-DLC1 and PTEN-PI3K complexes into the TNS3-PI3K and PTEN-DLC1 complexes. \"'), ('6673', 'EML4_ALK', '', 'EML4', 'ALK', '23328551', '22', 'non small cell lung cancer;non small cell lung cancer;small cell lung cancer\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These results suggest that ALK inhibitors may be safe and effective in critically ill patients on mechanical ventilation for respiratory failure resulting from EML4-ALK translocated NSCLC progression.. '), ('6674', 'CD33_CD19', '', 'CD33', 'CD19', '25538041', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In contrast, in patients with these MLL translocations, CD34(+)CD38(-)CD19(-)CD33(-) cells were enriched for normal hematopoietic stem cells (HSCs) with in vivo long-term multilineage hematopoietic repopulation capacity.     ///    \"Although LICs developed leukemic cells with clonal immunoglobulin heavy-chain (IGH) rearrangement in vivo, CD34(+)CD38(-)CD19(-)CD33(-) cells repopulated recipient bone marrow and spleen with B cells, showing broad polyclonal IGH rearrangement and recipient thymus with CD4(+) single positive (SP), CD8(+) SP, and CD4(+)CD8(+) double-positive (DP) T cells. \"    ///    \"In patient samples, these molecules were expressed in CD34(+)CD38(+) and CD34(-) LICs but not in CD34(+)CD38(-)CD19(-)CD33(-) HSCs. \"'), ('6675', 'EML4_ALK', '', 'EML4', 'ALK', '26850068', '22', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Results reported coexistence of EGFR mutation and EML4-ALK gene translocation in plasma which heavily indicated that ALK was the primary reason for progression of the liver lesions.     ///    Here we report a multiple metastatic NSCLC patient who was detected to have pure EGFR 19 exon deletion (negative for EML4-ALK and ROS1 in both IHC-based and sequencing assay) in the primary lesion and responded to first-line and second-line EGFR-TKI treatments (erlotinib then HY-15772).     ///    Metastatic EML4-ALK fusion detected by circulating DNA genotyping in an EGFR-mutated NSCLC patient and successful management by adding ALK inhibitors: a case report.. '), ('6676', 'SRF_NCOA2', '', 'SRF', 'NCOA2', '23463663', '22', 'rhabdomyosarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', '', '', 'An SRF-NCOA2 fusion was detected in a spindle cell RMS from the posterior neck in a 7-month-old child. '), ('6677', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '24215322', '22', 'ewing sarcoma;sarcoma\r\r', 'FISH;PCR;RT-PCR ', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'A small number of cases sharing the undifferentiated EFT appearance have been characterized recently carrying BCOR-CCNB3 or CIC-DUX4 fusions. '), ('6678', 'CD8_CD4', '', 'CD8', 'CD4', '14510983', '22', 'T cell lymphoma;lymphoma;mycosis fungoides\r\r', '', '', '', '', '', '', '', '', 'Six diagnostic criteria were evaluated: clinical morphology, clinical distribution, skin biopsy T-cell receptor gene rearrangement (TCR-GR), skin biopsy pan T-cell marker loss > or = 2, skin biopsy CD4/CD8 ratio > or = 6, and skin biopsy diffuse epidermal HLA-DR expression. '), ('6679', 'RARA_PML', '', 'RARA', 'PML', '7624661', '22', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Special topics are devoted to Ras, erbB2, p 53 and characteristical gene rearrangements, such as bcr-abl, RARA-PML, VDJ, bcl2-IgH. '), ('6680', 'MECT1_MAML2', 't(11;19)(q12;p13) / t(6;9)(q22-23;p23-24) / t(15;19) / 19p13.1 / ', 'MECT1', 'MAML2', '21238915', '22', 'adenoid cystic carcinoma;mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'The MECT1-MAML2 fusion transcript, present in more than half of MECs, is associated with lower histologic grades and improved survival, suggesting both diagnostic and prognostic roles in clinical management. '), ('6681', 'RARA_PML', '', 'RARA', 'PML', '11916515', '22', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Patient 1 did not express RAR(alpha)-PML and patient 2 showed the RAR(alpha)-PML transcript, which corresponded to the typical bcr1. '), ('6682', 'RET_PTC3', '', 'RET', 'PTC3', '10027005', '22', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The majority showed RET/PTC3 (i.e., ELE/RET rearrangements), including several subtypes. '), ('6683', 'DEK_CAN', '', 'DEK', 'CAN', '17927867', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR. '), ('6684', 'R3HDM2_NFE2', '', 'R3HDM2', 'NFE2', '19881495', '22', 'lung cancer\r\r', '', '', '', '', '', '', '', 'Seq', 'By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line. '), ('6685', 'EML4_ALK', '', 'EML4', 'ALK', '26208325', '22', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Selection of NSCLC patients for targeted therapy is currently based upon the presence of sensitizing mutations in EGFR and EML4/ALK translocations. '), ('6686', 'BCR_ABL1', '', 'BCR', 'ABL1', '26017033', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The primary and relapsed leukemias shared the identical BCR-ABL1 fusion genomic sequence and two identical immunoglobulin gene rearrangements, indicating that the relapse was a derivative of the founding clone. '), ('6687', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '21380694', '22', 'hematologic malignancy', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The reciprocal ABL-BCR product is also transcriptionally active in the majority of cases (4, 5).. '), ('6688', 'MYC_IGH', '', 'MYC', 'IGH', '16527615', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We report on a case of B-ALL of L3 morphology with MYC-IGH translocation. '), ('6689', 'PTEN_DLC1', '', 'PTEN', 'DLC1', '26166433', '22', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Subsequently, the TNS3-PI3K complex translocates to the leading edge of a migrating cell to promote Rac1 activation, whereas PTEN-DLC1 translocates to the posterior for localized RhoA activation.     ///    \"On epidermal growth factor (EGF) or platelet-derived growth factor (PDGF) stimulation, TNS3 and PTEN are phosphorylated at specific Thr residues, which trigger the rearrangement of the TNS3-DLC1 and PTEN-PI3K complexes into the TNS3-PI3K and PTEN-DLC1 complexes. \"'), ('6690', 'YAP1_TFE3', '', 'YAP1', 'TFE3', '25817592', '22', 'vascular neoplasm', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Subsets have been characterized previously by translocations resulting in either WWTR1-CAMTA1 or YAP1-TFE3 fusion.     ///    This study confirms the high incidence of WWTR1-CAMTA1 and YAP1-TFE3 rearrangements in EHE and indicates that the staining pattern for TFE3 IHC is critical for specificity..     ///    One of 18 informative cases was positive for YAP1-TFE3 fusion and showed strong nuclear TFE3 staining by IHC. '), ('6691', 'MYC_BCL2', '', 'MYC', 'BCL2', '23939148', '22', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The most common form of DHL has translocations involving MYC and BCL2, also known as MYC/BCL2 DHL.     ///    \"More recently, studies have suggested expanding the spectrum of MYC/BCL2 DHL to include cases that have concurrent MYC and BCL2 cytogenetic abnormalities, but not necessarily translocations. \"    ///    \"In this review, we discuss the clinicopathologic, immunophenotypic, cytogenetic, and prognostic features of MYC/BCL2 DHL. \"    ///    \"These tumors show overlap with MYC/BCL2 DHL, but are not equivalent. \"    ///    \"Most cases of MYC/BCL2 DHL morphologically resemble diffuse large B-cell lymphoma (DLBCL) or B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma. \"    ///    MYC/BCL2 double-hit high-grade B-cell lymphoma..     ///    \"In recent years, a number of case series of MYC/BCL2 DHL have been published. \"'), ('6692', 'CD31_CD144', '', 'CD31', 'CD144', '11168805', '22', '', '', '', '', '', '', '', '', '', 'Basic fibroblast growth factor completely dissociated vascular endothelial cadherin/beta-catenin complexes and robustly moved beta-catenin into the nucleus in CD144 cells, whereas in CD31/CD144 cells as well as in human umbilical vein endothelial cells, fibroblast growth factor only partially dissociated the junctional complex followed by a significantly reduced nuclear translocation of beta-catenin.     ///    \"We also analyzed the effect of fibroblast growth factor-induced rearrangement of junctions on junction permeability for leukocytes: in line with our observation that vascular endothelial cadherin was required for cells to respond to fibroblast growth factor, only in CD31/CD144 cells, but not in CD31 cells, leukocyte transmigration was significantly enhanced by fibroblast growth factor. \"    ///    \"As a functional consequence, fibroblast growth factor induced a complete collapse of the F-actin network in CD144 cells, a limited rearrangement of F-actin fibers in CD31/CD144 cells and no F-actin rearrangement in CD31 cells. \"    ///    \"To explore a putative cooperation of platelet endothelial cell adhesion molecule-1 and vascular endothelial cadherin, we analyzed transfectants expressing either platelet endothelial cell adhesion (CD31 cells) or vascular endothelial cadherin (CD144 cells) or both molecules (CD31/CD144 cells), and, for comparison, human umbilical vein endothelial cells. \"'), ('6693', 'BCR_ABL1', '', 'BCR', 'ABL1', '16141323', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We therefore investigated BTK function in B cell precursor leukemia cells carrying a BCR-ABL1, E2A-PBX1, MLL-AF4, TEL-AML1, or TEL-PDGFRB gene rearrangement. '), ('6694', 'TEL_AML1', '', 'TEL', 'AML1', '10965000', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'in particular, the Philadelphia chromosome and MLL gene rearrangements (especially in infants) are adverse features, while TEL-AML1 is favorable. '), ('6695', 'RDH54_RAD54', '', 'RDH54', 'RAD54', '23613757', '22', '', '', '', '', '', '', '', '', '', 'Bridge-induced chromosome translocation in yeast relies upon a Rad54/Rdh54-dependent, Pol32-independent pathway.. '), ('6696', 'BCR_ABL1', '', 'BCR', 'ABL1', '20352097', '22', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Applying this system to a human cell line, we successfully recapitulated two types of pathogenic chromosomal translocations in human diseases: MYC/IgH and BCR/ABL1. '), ('6697', 'RARA_PML', '', 'RARA', 'PML', '18719738', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Both groups showed similar characteristics regarding white blood cell counts, cytogenetic data or presence of gene rearrangements associated with good prognosis as AML1-ETO, CBFB-MYH11 and PML/RARA. '), ('6698', 'MLL_AF4', '', 'MLL', 'AF4', '19131787', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Two different MLL/AF4 variants were found in both the twins, the first involving MLL intron 8 and AF4 intron 3 and the second stemming from translocations of MLL exon 10 and AF4 exon 4. '), ('6699', 'MYC_BCL2', '', 'MYC', 'BCL2', '25103070', '22', 'non Hodgkin lymphoma;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'B-cell lymphomas with concurrent MYC and BCL2 abnormalities other than translocations behave similarly to MYC/BCL2 double-hit lymphomas..     ///    \"In aggregate, these results support expanding the category of MYC/BCL2 DHL to include large B-cell lymphomas with coexistent MYC and BCL2 abnormalities other than concurrent translocations. \"'), ('6700', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '25040635', '22', 'cystadenocarcinoma', '', 'Kinase', '', '', '', '', 'KB', 'Seq', ' Mammary analog secretory carcinoma (MASC) of the salivary gland has been recently described according to morphological, immunohistochemical, and molecular (ETV6-NTRK3 translocation) similarities with the mammary secretory carcinoma. '), ('6701', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '17131411', '22', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In contrast, genetic alterations in follicular carcinomas include PAX8-PPARgamma translocations and RAS mutations while mutations of CTNNB1 and p53 have been implicated in the development and progression of poorly differentiated and undifferentiated (anaplastic) thyroid carcinomas. '), ('6702', 'CD38_CD19', '', 'CD38', 'CD19', '25538041', '22', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In contrast, in patients with these MLL translocations, CD34(+)CD38(-)CD19(-)CD33(-) cells were enriched for normal hematopoietic stem cells (HSCs) with in vivo long-term multilineage hematopoietic repopulation capacity.     ///    \"Although LICs developed leukemic cells with clonal immunoglobulin heavy-chain (IGH) rearrangement in vivo, CD34(+)CD38(-)CD19(-)CD33(-) cells repopulated recipient bone marrow and spleen with B cells, showing broad polyclonal IGH rearrangement and recipient thymus with CD4(+) single positive (SP), CD8(+) SP, and CD4(+)CD8(+) double-positive (DP) T cells. \"    ///    \"In patient samples, these molecules were expressed in CD34(+)CD38(+) and CD34(-) LICs but not in CD34(+)CD38(-)CD19(-)CD33(-) HSCs. \"'), ('6703', 'NOTCH_MIR143', '', 'NOTCH', 'MIR143', '23999936', '22', 'angioleiomyoma;glomus tumor;myofibroma', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'Novel MIR143-NOTCH fusions in benign and malignant glomus tumors.. '), ('6704', 'MDS1_AML1', '', 'MDS1', 'AML1', '17927867', '22', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Fusion genes, including AML1/ETO, PML/RARalpha, CBFbeta/MYH11, MLL gene rearrangements (that is, MLL/AF6, MLL/AF9, MLL/AF10, and MLL/MLL), DEK/CAN, TEL/PDGFR, and AML1/MDS1 (EVI-1), were detected in 28 (46.7%) patients by multiplex RT-PCR. '), ('6705', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '9285793', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Indirect immunofluorescence analysis of COS-1 cells expressing tagged or untagged SYT, SSX2, SYT-SSX1 or SYT-SSX2 indicated that all these proteins are localized in the nucleus, excluding the nucleoli. '), ('6706', 'NUP98_HOXA9', 't(7;11)(p15;p15) / t(7;11) / ', 'NUP98', 'HOXA9', '8563753', '21', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The translocation produces an invariant chimaeric NUP98/HOXA9 transcript containing the amino terminal half of NUP98 fused in frame to HOXA9. '), ('6707', 'PRCC_MAD2B', 'p11;q21 / ', 'PRCC', 'MAD2B', '11717438', '21', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas.. '), ('6708', 'NPM_ALK', 'p23;q35 / t(1;2)(q25;p23) / t(2;3)(p23;q21) / ', 'NPM', 'ALK', '10807789', '21', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We report here 2 lymphomas with an unusual finely granular cytoplasmic ALK staining pattern, clearly different from the pattern observed in ALK-positive lymphomas carrying NPM-ALK or its variants. '), ('6709', 'PTC_RET', '', 'PTC', 'RET', '16181547', '21', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements.     ///    (1) BRAF(V599E) mutation and RET/PTC rearrangements were unique to PTC.     ///    (3) There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements suggest that they are alternative events in PTC..     ///    [BRAFV599E mutation and RET/PTC rearrangements in papillary thyroid carcinoma].     ///    [BRAFV599E mutation and RET/PTC rearrangements in papillary thyroid carcinoma]..     ///    \"(3) Statistic data did not show any correlation between the BRAF(V599E) mutation, RET/PTC and clinicopathologic features of PTC (P > 0.05). \"    ///    \"Among them, 5 cases (7.6%) were RET/PTC1 and 9 cases (13.6%) were RET/PTC3 respectively. \"    ///    (2) Fourteen (21.2%) PTC cases expressed RET/PTC chimeric gene.     ///    PCR and RT-PCR were employed to detect BRAF(V599E) mutation and RET/PTC chimeric genes in 95 frozen and parraffine-embeded thyroid tissue. '), ('6710', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '14563642', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK possesses a constitutive tyrosine kinase activity responsible for its oncogenic property through activation of downstream effectors such as phospholipase C gamma (PLC-gamma) and the type IA phosphoinositide 3-kinase.     ///    \"Overall, our data place Src-kinases as new important downstream effectors of NPM-ALK and as attractive potential therapeutic targets for new ALCL treatment.. \"    ///    The kinase activity and the tyrosine 418 of NPM-ALK are required for its association with Src-kinases.     ///    \"Moreover, using active or inactive forms of pp60(c-src) and NPM-ALK, we provide evidence that NPM-ALK is a potential substrate of pp60(c-src). \"    ///    Y418F mutation of NPM-ALK impaired its association with Src-kinases and strongly reduced the proliferation rate of Ba/F3 cells.     ///    \"Here, we show that the Src-kinases, particularly pp60(c-src), associate with and are activated by NPM-ALK expression in various cells, and in cell lines established from patients with ALCL. \"'), ('6711', 'MECT1_MAML2', 't(11; 19) (q12; p13) / / ', 'MECT1', 'MAML2', '23459841', '21', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'Fusion-positive cases showed significantly better survival than fusion-negative cases, suggesting that MECT1-MAML2 represents a specific prognostic molecular marker in MEC.    ///    \"Fusion-positive cases showed significantly better survival than fusion-negative cases, suggesting that MECT1-MAML2 represents a specific prognostic molecular marker in MEC. \"    ///    \"Although the incidence of this fusion in MEC varies, it is generally accepted that more than 50?% of this entity manifest the MECT1-MAML2. \"'), ('6712', 'TFE3_PRCC', 't(9;11) / ', 'TFE3', 'PRCC', '16575003', '21', 'Hurler\'s syndrome', '', '', '', '', '', '', 'KB', '', 'At the molecular level, three tumors contained the ASPL-TFE3 fusion, two contained Alpha-TFEB, and one contained PRCC-TFE3. '), ('6713', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '17519389', '21', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Several upstream modulators, cross-reacting oncogenes, and downstream effectors of NPM-ALK have been identified and characterized.     ///    \"In this review, we briefly discuss ALCL and focus on NPM-ALK.. \"    ///    \"Only 13 years after the identification of NPM-ALK, tremendous progress has been made in our understanding of this molecule because of the relentless efforts of multiple investigators who have dissected its biologic roles using in vitro and in vivo experimental models. \"'), ('6714', 'FGFR1_ZNF198', 't(8;13)  / t(8;22)  / ', 'FGFR1', 'ZNF198', '12594223', '21', '', '', 'Kinase', '', '', '', '', '', '', 'The oncogenic fusion protein-tyrosine kinase ZNF198/fibroblast growth factor receptor-1 has signaling function comparable with interleukin-6 cytokine receptors.. '), ('6715', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '18385909', '21', 'prostate cancer\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2:ERG transcripts were found in 44% of our samples, but we did not detect expression of TMPRSS2:ETV1.     ///    \"We analyzed the frequency of TMPRSS2:ERG and TMPRSS2:ETV1 transcripts in 27 prostate cancer biopsies from prostatectomies, and TMPRSS2:ERG transcripts in CTC isolated from 15 patients with advanced androgen independent disease using reverse transcription polymerase chain reaction (RT-PCR). \"    ///    \"We analyzed the frequency of TMPRSS2:ERG and TMPRSS2:ETV1 transcripts in 27 prostate cancer biopsies from prostatectomies, and TMPRSS2:ERG transcripts in CTC isolated from 15 patients with advanced androgen independent disease using reverse transcription polymerase chain reaction (RT-PCR).\"'), ('6716', 'ETO _AML1', 't(8;21)  / ', 'ETO ', 'AML1', '17197431', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This chromosomal abnormality fuses part of the AML1/RUNX1 gene to the ETO/MTG8 gene and generates the AML1-ETO protein.     ///    AEtr is almost identical to the AML1-ETO exon 9a isoform expressed in leukemia patients.     ///    We previously identified a C-terminal truncated AML1-ETO protein (AEtr) in a mouse leukemia model. '), ('6717', 'TRD_NKX2-5', '', 'TRD', 'NKX2-5', '16531254', '21', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Expression of NKX2-5 was analyzed by real-time quantitative PCR in the T-ALL case with the NKX2-5-TRD rearrangement, 18 other cases of T-ALL, three T-ALL derived cell lines, two non-hematopoietic cell lines, peripheral blood mononuclear cells from six healthy individuals and sorted thymocyte subsets. '), ('6718', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '23025542', '21', 'follicular adenoma', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Detection of PAX8/PPARG and RET/PTC rearrangements is feasible in routine air-dried fine needle aspiration smears..     ///    \"As PAX8/PPARG and RET/PTC rearrangements have been detected in follicular thyroid carcinomas (FTCs) and papillary thyroid carcinomas (PTCs), their detection in FNA smears could improve the FNA diagnosis. \"    ///    These data are the first to show the feasibility of extracting RNA from routine air-dried FNA smears for the detection of PAX8/PPARG and RET/PTC rearrangements with RT-qPCR.     ///    PAX8/PPARG was detected in 4 of 96 FFPEs and in 6 of 96 FNAs.    ///    \"A new method for RNA extraction from routine air-dried FNA smears was established, which allowed analysis for the presence of four variants of PAX8/PPARG and RET/PTC 1 and RET/PTC 3, which were analyzed in 106 routine FNA smears and the corresponding surgically obtained FFPE tissues using real-time quantitative PCR (RT-qPCR). \"    ///    PAX8/PPARG was present in 4 of 10 FTCs and in 3 of 42 follicular adenomas (FAs). '), ('6719', 'EML4_ALK', '', 'EML4', 'ALK', '23612660', '21', 'non small cell lung cancer;lung cancer\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These cells were more sensitive to crizotinib, an ALK inhibitor compared with PC-9 and H460 cells without EML4-ALK rearrangement.     ///    \"In situ proximity ligation assay (PLA) originally developed for precise detection and quantification of proteins by dual recognition and amplification process was used for sensitive detection of EML4-ALK fusion oncoprotein in NSCLC cell lines (ALK negative cell: PC-9 and H460, ALK positive cell: H3122 and H2228).\"    ///    Sensitive detection of EML4-ALK fusion oncoprotein of lung cancer by in situ proximity ligation assay.    ///    EML4-ALK oncogene and protein in lung cancer cells were confirmed by multiplex RT-PCR and Western blots.     ///    We detected 117 kDa variant 1 of EML4-ALK in H3122 and 90 kDa variant 3 of EML4-ALK in H2228.     ///     EML4-ALK fusion oncogene has emerged as a novel molecular target in non-small cell lung cancer (NSCLC).     ///    Highly specific and sensitive detection of EML4-ALK fusion oncoprotein is possible by in situ PLA method suggesting its clinical application..     ///    Sensitive detection of EML4-ALK fusion oncoprotein of lung cancer by in situ proximity ligation assay..     ///    \"In situ proximity ligation assay (PLA) originally developed for precise detection and quantification of proteins by dual recognition and amplification process was used for sensitive detection of EML4-ALK fusion oncoprotein in NSCLC cell lines (ALK negative cell: PC-9 and H460, ALK positive cell: H3122 and H2228). \"'), ('6720', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '16952014', '21', 'ewing sarcoma', '', '', '', '', '', '', '', '', 'Somite defects in PAX3-FKHR transgenic animals resulted in skeletal malformations that included rib fusions and mis-attachments.     ///    \"We reported that PAX3-FKHR interferes with normal Pax3 developmental functions, with mice exhibiting neural tube and neural crest abnormalities that mimic those found in Pax3-deficient Splotch mice. \"    ///    \"Embryos from the transgenic line expressing the highest levels of PAX3-FKHR had severe neural tube defects, including exencephaly, and almost half of the embryos died between gestational ages E13.5-E15.5. \"    ///    We previously developed transgenic mice expressing PAX3-FKHR under the control of mouse Pax3 regulatory sequences to test this hypothesis.     ///    \"Here we expanded those studies to show that developmental expression of PAX3-FKHR results in aberrant myogenesis in the developing somites and neural tube, leading to ectopic skeletal muscle formation in the mature spinal cord. \"    ///    Gene expression profiling indicated that PAX3-FKHR expression in the developing neural tube induces a myogenic pattern of gene expression at the expense of the normal neurogenic program.     ///    \"Transgenic mice expressing PAX3-FKHR have multiple defects in muscle development, including ectopic skeletal myogenesis in the developing neural tube.. \"    ///    \"These studies reveal a prominent role for PAX3-FKHR in disrupting Pax3 functions and in deregulating skeletal muscle development, suggesting that this fusion protein plays a critical role in the pathogenesis of alveolar RMS by influencing the commitment and differentiation of the myogenic cell lineage.. \"    ///    \"The resulting PAX3-FKHR fusion protein contains PAX3 DNA-binding domains fused to the potent transactivation domain of FKHR, suggesting that PAX3-FKHR functions to deregulate PAX3-specific target genes and signaling pathways. \"'), ('6721', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '23837487', '21', 'thyroid nodule;thyroid carcinoma;follicular adenoma\r\r', 'PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PAX8/PPARG and RET/PTC rearrangements were detected by qPCR, BRAF and RAS mutations by high-resolution melting PCR and by pyrosequencing.     ///    \"While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively.\"    ///    \"Forty-seven mutations were detected in the FNAs: 22 BRAF, 13 NRAS, and 3 HRAS mutations, 8 PAX8/PPARG, and one RET/PTC-rearrangement.\"    ///    \"Forty-seven mutations were detected in the FNAs: 22 BRAF, 13 NRAS, and 3 HRAS mutations, 8 PAX8/PPARG, and one RET/PTC-rearrangement. \"    ///    \"While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively. \"    ///    Further data are necessary to elucidate the true impact of detecting RAS and PAX8/PPARG mutations in FNAs. '), ('6722', 'SYT_SSX2', 'p11;q11 / ', 'SYT', 'SSX2', '9285793', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Indirect immunofluorescence analysis of COS-1 cells expressing tagged or untagged SYT, SSX2, SYT-SSX1 or SYT-SSX2 indicated that all these proteins are localized in the nucleus, excluding the nucleoli. '), ('6723', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '12613529', '21', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'We analysed the complete open reading frame (ORF) of the bcl-2 gene for the presence of mutations in 24 bcl-2/IgH-positive diagnostic FL samples by the single strand conformation polymorphism (SSCP) technique. '), ('6724', 'PPARG_PAX8', 't(2;3)(q13;p25) / ', 'PPARG', 'PAX8', '12519876', '21', 'thyroid carcinoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Concordant expression of protein was found in 91% of those tumors in which PAX8-PPAR gamma mRNA was detected by RT-PCR, whereas a further 20% of follicular tumors were positive for PPAR gamma immunohistochemistry alone.     ///    Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas..     ///    \"Our findings suggest that the PAX8-PPAR gamma fusion protein promotes differentiated follicular thyroid neoplasia, although it is not sufficient per se for carcinogenesis.. \"'), ('6725', 'RARA_PLZF', 't(15;17)  / t(11;17)  / ', 'RARA', 'PLZF', '7697468', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Both PML/RAR alpha and PLZF/RAR alpha display the \"dominant negative\" effect on the wild-type RAR/RXR. '), ('6726', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10229776', '21', 'synovial sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'A predominantly epithelioid synovial sarcoma that expressed a novel variant of the SYT-SSX1 fusion is described.     ///    Detection of a variant SYT-SSX1 fusion in a case of predominantly epithelioid synovial sarcoma..     ///    Analysis revealed a 673 bp SYT-SSX1 chimeric product characterized by a novel junction of SYT codon 379 to SSX1 codon 83 with a 6 bp insertion at the fusion junction. '), ('6727', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '12748172', '21', 'non Hodgkin lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK is capable of transforming fibroblasts and lymphocytes in vitro and of causing lymphomas in mice.     ///    \"In this study, we used an ALK fusion protein as bait in a yeast two-hybrid screen identifying NIPA (nuclear interacting partner of ALK) as a novel downstream target of NPM-ALK. \"'), ('6728', 'RARA_PML', '', 'RARA', 'PML', '17712046', '21', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The diagnostic marrow was negative for PML-RARA transcripts by reverse transcription-polymerase chain reaction (RT-PCR), but an atypical product was observed. '), ('6729', 'PSF_TFE3', 't(X;1)(p11.2;p34) / / ', 'PSF', 'TFE3', '21504709', '21', 'renal cell carcinoma', '', '', '', '', '', '', '', '', 'The presence of the PSF-TFE3 fusion has only been described in a very limited number of cases.    ///    Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma.. '), ('6730', 'RUNX1_ETV6', 'Chr2:88273220-91084234 / Chr12:10383878-16017619 / ', 'RUNX1', 'ETV6', '18557744', '21', 'down syndrome\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'five cases with high-hyperdiploidy (HH) and nine cases with ETV6-RUNX1 positive clones.     ///    \"ALL from non-DS patients showed a similar overall karyotypic stability, although gains of chromosome 21 were infrequent in the ETV6-RUNX1 positive cases. \"    ///    \"This overall analysis supports the suggestion that, although constitutional trisomy 21 predisposes to ALL/AMKL, the cytogenetic changes associated with DS-ALL in particular, are most similar to those found in non-DS ETV6-RUNX1 positive ALL. \"'), ('6731', 'BIRC3_MALT1 ', 't(11;18)(q21;q21) / ', 'BIRC3', 'MALT1 ', '15894263', '21', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Here we show that self-oligomerization of the c-IAP2/MALT1 protein causes deregulated ubiquitin ligase activity of MALT1/paracaspase.     ///    \"The c-IAP2/MALT1 fusion protein activates the NF-kappaB pathway, which is considered critical to malignant B cell transformation and lymphoma progression. \"'), ('6732', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '17537995', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This study was aimed at identifying novel NPM/ALK-binding proteins that might contribute to its oncogenic transformation.     ///    Protein-protein interactions involving NPM/ALK are important for the activation of downstream signaling pathways.     ///    The interaction between NPM/ALK and PSF was dependent on an active ALK kinase domain and PSF was found to be tyrosine-phosphorylated in NPM/ALK-expressing cell lines and in primary ALK(+) ALCL samples.     ///    \"Using a proteomic approach, several RNA/DNA-binding proteins were found to coimmunoprecipitate with NPM/ALK, including the multifunctional polypyrimidine tract binding proteinassociated splicing factor (PSF). \"    ///    Y293F PSF was not phosphorylated by NPM/ALK and was not delocalized in NPM/ALK(+) cells.     ///    NPM/ALK binds and phosphorylates the RNA/DNA-binding protein PSF in anaplastic large-cell lymphoma..     ///    \"These results identify PSF as a novel NPM/ALK-binding protein and substrate, and suggest that PSF function may be perturbed in NPM/ALK-transformed cells.. \"    ///    The expression of ALK fusion proteins induced delocalization of PSF from the nucleus to the cytoplasm and forced overexpression of PSF-inhibited proliferation and induced apoptosis in cells expressing NPM/ALK. '), ('6733', 'NUP98_LEDGF', 't(9;11)(p22;p15) / ', 'NUP98', 'LEDGF', '11103774', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;ISH', '', '', '', '', '', '', '', 'however, the reciprocal p52/p75 (LEDGF)-NUP98 fusion mRNA was not detected.     ///    \"As expected, both NUP98-p52 and NUP98-p75 (LEDGF) chimeric mRNAs were detected by reverse transcription-PCR. \"'), ('6734', 'TFE3_ASPL', 't(9;11) / ', 'TFE3', 'ASPL', '16575003', '21', 'Hurler\'s syndrome', '', '', '', '', '', '', '', '', 'At the molecular level, three tumors contained the ASPL-TFE3 fusion, two contained Alpha-TFEB, and one contained PRCC-TFE3. '), ('6735', 'CDK6_CDK4', 't(9;14)(p21;q32) / ', 'CDK6', 'CDK4', '8847892', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;retinoblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Moreover, the growth of JKB2 cells was partially inhibited by TGF beta or IL-7, accompanied by decreased CDK4 and CDK6 expression, increased p2l and p27 expression, decreased p27 binding to CDK4/CDK6, and increased binding of p27 to CDK2. '), ('6736', 'RET_PTC3', '', 'RET', 'PTC3', '9315093', '21', 'papillary carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the \'spontaneous\' tumors, only the papillary carcinomas presented a ret rearrangement (15%:3/20): 1 RET/PTC1, 1 RET/ PTC3 and 1 uncharacterized.     ///    \"(2) in contrast with the results obtained in the Chernobyl tumors, the most frequently observed chimeric gene was RET/PTC1 instead of the RET/PTC3 and (3) all the tumors were negative for RET/PTC2. \"'), ('6737', 'CREB_ATF', 't(14;18)  / ', 'CREB', 'ATF', '12032828', '21', 'follicular lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Chromatin immunoprecipitation assays with antibodies specific for the NF-kappaB and CREB/ATF family members, as well as Sp1, resulted in the isolation of this IkappaBalpha-super-repressor responsive region of the bcl-2 promoter. '), ('6738', 'RET_PTC', '', 'RET', 'PTC', '9466701', '21', 'papillary carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our data confirm the crucial role played by the ret proto-oncogene activating rearrangements in the development of radiation-associated thyroid tumors, and show, for the first time, the presence of RET/PTC genes in follicular adenomas appeared after external irradiation..     ///    \"In our study, we have analyzed for the presence of RET/PTC oncogenes using the RT-PCR, XL-PCR, Southern blot and direct sequencing techniques, 39 human thyroid tumors from patients who had received external radiation for benign or malignant conditions. \"    ///    \"2) in contrast with the results obtained in the Chernobyl tumors, the most frequently observed chimeric gene was RET/PTC1. \"'), ('6739', 'IGH_BCL2', '', 'IGH', 'BCL2', '24814955', '21', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Information on BCL2-IGH rearrangement and clinical characteristics were available for all patients. '), ('6740', 'RARA_PML', '', 'RARA', 'PML', '10774514', '21', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' Molecular assay commonly used to detect the PML/RAR alpha rearrangement in acute promyelocytic leukemia (APL) has the limited sensitivity in comparison with the higher sensitivity of RAR alpha/PML detection.     ///    \"RAR alpha/PML rearrangement is not expressed in the totality of the APL patients, but in only a 90% of them. \"    ///    RAR alpha/PML rearrangement was detected in a greater proportion of samples than PML/RAR alpha.     ///    [Monitoring of minimal residual disease with the combined detection of PML/RAR alpha and RAR alpha/PML rearrangements in acute promyelocytic leukemia]..     ///    Likewise RAR alpha/PML rearrangement was detected in some post-consolidation samples (2/11) that all were PMI/RAR alpha negatives.     ///    RAR alpha/PML rearrangement lasted longer than PML/RAR alpha after treatment..     ///    RAR alpha/PML rearrangement was detected in 90% (20/22) of the patients at diagnosis positives for PML/RAR alpha.     ///    In patients in maintenance regimen a greater proportion of RAR alpha/PML positives (6/28) versus PML/RAR alpha (2/28) were observed.     ///    The results of the patients monitored since the diagnosis showed that RAR alpha/PML revert to negative one month after PML/RAR alpha negativization.     ///    In a patient in complete remission RAR alpha/PML preceded the positivity of PML/RAR alpha and persisted after PMI/RAR alpha negativization.     ///    The PML/RAR alpha was detected according with Biondi\'s et al method and the RAR alpha/PML following the Grimwade\'s et al RT-PCR method (Human Press Inc.).     ///    RAR alpha/PML was detected in 74% (14/19) of post-induction samples versus 37% (7/19) of positives for PML/RAR alpha. '), ('6741', 'DMD_BMD', '', 'DMD', 'BMD', '20381484', '21', '', 'PCR', '', '', '', '', '', '', '', 'Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients..     ///     Adaptation of a low-cost protocol to diagnose large rearrangements of the dystrophin gene in DMD/BMD Syrian patients and to establish the distribution of these mutations in the 2 hotspots.     ///    Our method may be useful as a cost-effective first-line test for the diagnosis of DMD/BMD patients before using exhaustive and expensive methods..     ///    gDNA from 51 unrelated Syrian DMD/BMD male patients was isolated and analyzed by multiplex PCR of 25 hotspot exons in order to detect deletions.     ///    \"Combination of traditional multiplex PCR of hotspot exons with real-time PCR quantification of only exons 4, 17, 47 and 52 positively diagnosed 59% of Syrian DMD/BMD patients. \"'), ('6742', 'CD20_CD19', 't(15;17) / t(8;21) / t(12;21)  / t(9;22)  / ', 'CD20', 'CD19', '24257300', '21', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Among the 13 children with B-ALL, there were 6 CD34(+)CD20(-)CD19(+) cases, 7 CD9(+) cases, and 5 CD123(+) cases. '), ('6743', 'TFG_ALK', '', 'TFG', 'ALK', '25148236', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We also detected oncogenic rearrangements not previously associated with FVPTC, including TFG-ALK and CREB3L2-PPAR?. '), ('6744', 'MALT1_API2', '', 'MALT1', 'API2', '18088487', '21', 'MALT lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'API2-MALT1 rearrangement were found 38.1% in low grade, and 12.5% in transform type.     ///    \"A number of factors including pathological characters, grade, stage, prognosis and treatment of 49 cases of MALT lymphoma were analyzed, and the API2-MALT1 rearrangement was detected by RT-PCR. \"    ///    \" The aim of this study was to investigate the clinical feature of mucosa-associated lymphoid tissue lymphoma and clarify the relationship between the pathological, clinical features, the expression of API2-MALT1 and the prognosis. \"'), ('6745', 'PDGFRB_TEL', 't(9;12)(p24;p13) / ', 'PDGFRB', 'TEL', '11313480', '21', '', '', 'Kinase', '', '', 'Receptor', '', '', '', 'We report that Socs-1, a member of the SOCS family of endogenous inhibitors of JAKs and STATs, inhibits transformation of Ba/F3 cells by TEL-JAK2 but has no effect on Ba/F3 cells transformed by BCR-ABL, TEL-ABL, or TEL-platelet-derived growth factor receptor beta. '), ('6746', 'IL6_IL10', '', 'IL6', 'IL10', '19352085', '21', 'B cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Although cytological examinations of the vitreous samples revealed Class II, the diagnosis of primary intraocular lymphoma (PIOL) was made by detecting both IgH rearrangement by PCR and an elevated ratio of IL-10/IL-6 concentration in the vitreous sample. '), ('6747', 'STAT5B_RARA', '', 'STAT5B', 'RARA', '11022230', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In acute promyelocytic leukemia (APL) cells with rearrangement of retinoic acid receptor a (RAR alpha) (including: PML-RAR alpha, PLZF-RAR alpha, NPM-RAR alpha, NuMA- RAR alpha or STAT5b-RAR alpha) as a result of chromosomal translocations, the RA signal pathway is disrupted and myeloid differentiation is arrested at the promyelocytic stage. '), ('6748', 'IGH_BCL2', '', 'IGH', 'BCL2', '25316810', '21', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In this study, we assessed whether the BCL2/IGH rearrangement could have a prognostic role in patients receiving R-CHOP, R-FM, or R-CVP.     ///    \"DNAs from 415 patients among the 504 cases enrolled in the FOLL05 trial (NCT00774826) were centralized and assessed for the BCL2/IGH at diagnosis, at the end of treatment, and after 12 and 24 months. \"'), ('6749', 'CD8_CD4', 't(11;14) (p13;q11) / t(7;11) (q35;p13) / ', 'CD8', 'CD4', '9707419', '21', '', '', '', '', '', '', '', '', '', 'This complex occurs in T-cell tumours and it is restricted to the immature CD4(- )CD8(-) thymocyte subset in asymptomatic transgenic mice.     ///    \"In a transgenic model of tumorigenesis by Lmo2, T-cell acute leukaemias arise after an asymptomatic phase in which an accumulation of immature CD4(-) CD8(-) double negative thymocytes occurs. \"'), ('6750', 'RET_PTC3', '', 'RET', 'PTC3', '10566678', '21', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'A strong correlation was observed between the solid-follicular subtype of papillary carcinoma and the RET/PTC3 isoform: 19 of the 24 RET/PTC-positive solid-follicular carcinomas harbored a RET/PTC3 rearrangement, whereas only 5 had a RET/PTC1 rearrangement.     ///    High prevalence of RET/PTC rearrangements in Ukrainian and Belarussian post-Chernobyl thyroid papillary carcinomas: a strong correlation between RET/PTC3 and the solid-follicular variant.. '), ('6751', 'MPD_FGFR1', 't(8;9)(p12;q33) / p12;q33 / t(8;9)(p11;q33) / ', 'MPD', 'FGFR1', '18096225', '21', 'myeloproliferative disorder;leukemia\r\r', '', 'Kinase', '', '', '', '', '', '', 'The FGFR1-MPD seems refractory to current chemotherapies and is not sensitive to imatinib. '), ('6752', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '14592978', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'These results suggest that PML-RARA mediates ATRA-induced C/EBPbeta expression.     ///    \"We further provide evidence that ATRA mediates a direct increase of C/EBPbeta, only in PML-RARA (promyelocytic leukemia-retinoic acid receptor alpha)-expressing cells. \"    ///    \"Taken together, C/EBPbeta is an ATRA-dependent PML-RARA target gene involved in ATRA-induced differentiation of APL cells.. \"    ///    \"In addition, transactivation experiments indicate that the PML-RARA fusion protein, but not PML-RARA mutants defective in transactivation, strongly transactivates the C/EBPbeta promoter. \"'), ('6753', 'GAL4_ERT', '', 'GAL4', 'ERT', '24643048', '21', '', '', '', '', '', '', '', '', '', 'We show these Gal4-ERT driver lines confer rapid, tissue-specific induction of UAS-controlled transgenes following tamoxifen exposure in both embryos and adult fish. '), ('6754', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '25569716', '21', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Conversion of the LIMA1 tumour suppressor into an oncogenic LMO-like protein by API2-MALT1 in MALT lymphoma..     ///    LIMA1 binding by API2-MALT1 is API2 dependent and proteolytic cleavage is dependent on MALT1 paracaspase activity.     ///    Here we show that API2-MALT1 induces paracaspase-mediated cleavage of the tumour suppressor protein LIMA1.     ///    \"Importantly, primary MALT lymphomas harbouring the API2-MALT1 fusion uniquely demonstrate LIMA1 cleavage fragments. \"'), ('6755', 'SHP_SF1', '', 'SHP', 'SF1', '17646707', '21', '', '', '', '', '', 'Receptor', '', '', '', 'Similarly, nSHP repressed the activity of nSF-1, whereas hSHP did not, pointing to divergent evolution of SHP/SF-1 in fish and human. '), ('6756', 'RAD54B_RAD54', '', 'RAD54B', 'RAD54', '12548566', '21', '', 'PCR', '', '', '', '', '', '', '', 'To investigate whether Rad54/Rad54B-mediated HR is involved in SHM, we determined the ratio of mutated versus non-mutated Vlambda PCR products from memory (IgM-, IgD-, Vlambda1+) and GC (PNA(high), Vlambda1+) B cells, the mutation load, the mutation frequency, the base exchange pattern and the distribution of somatic mutations along the rearranged Vlambda light chain (VlambdaLC) genes. '), ('6757', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '20554525', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Grb2 is an adaptor protein thought to play an important role in ALK-mediated transformation, but its interaction with NPM-ALK, as well as its function in regulating ALCL signaling pathways and cell growth, has never been elucidated.     ///    \"Here we show that active NPM-ALK, but not a kinase-dead mutant, bound and induced Grb2 phosphorylation in tyrosine 160. \"    ///    \"Furthermore, Grb2 did not bind to a single region but rather to different regions of NPM-ALK, mainly Tyr(152-156), Tyr(567), and a proline-rich region, Pro(415-417). \"    ///    The transforming activity mediated by NPM-ALK fusion induces different pathways that control proliferation and survival of lymphoma cells. ');
INSERT INTO `ChimerPub_dump` VALUES ('6758', 'RARA_NPM', 't(5;17)(q35;q21) / t(15;17)(q22;q21) / ', 'RARA', 'NPM', '25033841', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'TNF receptor type I-associated DEATH domain protein (TRADD) was identified as a relevant binding partner for NPM-RAR. '), ('6759', 'RET_PTC', '', 'RET', 'PTC', '23837487', '21', 'thyroid nodule;thyroid carcinoma;follicular adenoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'PAX8/PPARG and RET/PTC rearrangements were detected by qPCR, BRAF and RAS mutations by high-resolution melting PCR and by pyrosequencing.     ///    \"While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively. \"'), ('6760', 'MTG16_AML1', 't(8;21)  / t(16;21) / ', 'MTG16', 'AML1', '16474840', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Using gel-shift assay, we showed that AML1-ETO and AML1-MTG16 bound to a series of AML1 consensus DNA-binding sites with different affinities. '), ('6761', 'RARA_NPM', '', 'RARA', 'NPM', '11022230', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In acute promyelocytic leukemia (APL) cells with rearrangement of retinoic acid receptor a (RAR alpha) (including: PML-RAR alpha, PLZF-RAR alpha, NPM-RAR alpha, NuMA- RAR alpha or STAT5b-RAR alpha) as a result of chromosomal translocations, the RA signal pathway is disrupted and myeloid differentiation is arrested at the promyelocytic stage. '), ('6762', 'BCL2_IGH', '', 'BCL2', 'IGH', '17157165', '21', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Cells carrying nonlymphoma-associated bcl-2/IgH rearrangements (NLABR) are phenotypically related to follicular lymphoma and can establish as long-term persisting clonal populations..     ///    \" Nonlymphoma-associated bcl-2/IgH rearrangements (NLABRs) are frequently amplified by PCR in blood of lymphoma-free subjects (LFS), but the temporal kinetics and phenotypic nature of NLABR-positive cells are unknown. \"    ///    \"Of 125 donors, 16 (12.8%) were found to be bcl-2/IgH positive and were monitored at least every 6 months for a median time of 22 months (range 6-50). \"'), ('6763', 'SYT_SSX2', '', 'SYT', 'SSX2', '16557383', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Fourteen patients with SYT-SSX1 rearrangements and nine patients with biphasic tumor subtypes had better prognosis than the eight patients with SYT-SSX2 rearrangements and 13 patients with monophasic subtypes, respectively. '), ('6764', 'SSX_SS18', 'p11.2;q11.2 / ', 'SSX', 'SS18', '22550415', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Additional research efforts are required to fully explore the protein-protein interactions of SS18-SSX oncoproteins and the pathways that are regulated by these partnerships for the development of effective targeted therapy.. '), ('6765', 'RET_PTC', '', 'RET', 'PTC', '20640859', '21', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Comprehensive analysis of RET/PTC and NTRK1 rearrangements was carried out by multiplex screening RT-PCR, hybrid-specific RT-PCR and sequencing of detected hybrids.     ///    \"Eight PTCs expressed two different mutations (1 RET/PTC?+?BRAF, 6 NTRK1?+?BRAF, 1 RET/PTC?+?NTRK1). \"'), ('6766', 'STAT5_JAK2', '', 'STAT5', 'JAK2', '22028448', '21', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'When fish are returned to nutritionally favorable conditions, plasma GH levels decrease, and the ratio of GHRfl to GHRt in muscle increases, triggering JAK2/STAT5 reactivation and local IGF-I expression, concomitant with increased growth.     ///    \"The ratio of GHRfl to GHRt in muscle decreases during fasting, causing an inactivation of the JAK2/STAT5 signaling pathway and suppressed IGF-I expression, further impairing growth. \"    ///    \"Inherent growth hormone resistance in the skeletal muscle of the fine flounder is modulated by nutritional status and is characterized by high contents of truncated GHR, impairment in the JAK2/STAT5 signaling pathway, and low IGF-I expression.. \"'), ('6767', 'IGH_BCL2', '', 'IGH', 'BCL2', '12485501', '21', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Minimal residual disease was detected in 72 APBSC samples from 33 NHL patients through PCR or PCR combined with DNA single-strand conformation polymorphism analysis (SSCP) with the BCL-2/IgH, clonal rearrangement of IgH and TCR gamma gene as markers. '), ('6768', 'MCL1_BCL2', 't(14;18)  / ', 'MCL1', 'BCL2', '7682708', '21', 'leukemia;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The discovery of MCL1 broadens our perspective on an emerging MCL1/BCL2 gene family and will allow further comparison with oncogene families.. '), ('6769', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '18070884', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In contrast, mutation of the first and second (FFY), first and third (FYF), or all three (FFF) tyrosine residues impaired both kinase activity and transforming ability of NPM/ALK.     ///    \"Because kinases are typically regulated by autophosphorylation of their activation loops, we systematically mutated (Tyr --> Phe) three potential autophosphorylation sites contained in the \"\"YXXXYY\"\" motif of the ALK activation loop, and determined the effect of these mutations on the catalytic activity and biological function of NPM/ALK. \"    ///    \"Together, our findings indicate that phosphorylation of the first tyrosine of the YXXXYY motif is necessary for the autoactivation of the ALK kinase domain and the transforming activity of NPM/ALK.. \"    ///    Activated NPM/ALK stimulates downstream survival and proliferation signaling pathways leading to malignant transformation.     ///    We observed that mutation of both the second and third tyrosine residues (YFF mutant) did not affect the kinase activity or transforming ability of NPM/ALK.     ///     NPM/ALK is an oncogenic fusion protein expressed in approximately 50% of anaplastic large cell lymphoma cases. '), ('6770', 'DD3_DD2', '', 'DD3', 'DD2', '26898266', '21', '', '', '', '', '', '', '', '', '', 'We prospectively analysed the diagnostic and relapse samples of 34 paediatric patients, thus identifying 125 leukaemic clones with recombinations on multiple loci (TRG, TRD, IGH and IGK), including Dd2/Dd3 and Intron/KDE rearrangements. '), ('6771', 'RET_PTC1', '', 'RET', 'PTC1', '23327964', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'There were 17 (35.4%) cases of RET/PTC1 and 6 (12.5%) of RET/PTC3, with no multiple rearrangements.     ///    The incidence of BRAF T1799A mutation and RET/PTC rearrangement is higher in Qingdao.     ///    Both BRAF T1799A mutation and RET/PTC rearrangement were present in 6 (12.5%) cases of non-micro PTC.     ///     To investigate the prevalence of BRAF T1799A mutation and RET/PTC rearrangement in Qingdao and detect the expression of platelet-derived growth factor B (PDGF-B) in order to investigate the correlation between gene mutation and PDGF-B.     ///    18 (37.5%) had BRAF T1799A mutations and 23(47.9%) had RET/PTC rearrangement.     ///    \"[The correlation between BRAF mutations, RET/PTC rearrangements and platelet-derived growth factor B expression in papillary thyroid carcinomas].. \"    ///    \"The level of PDGF-B expression in BRAF T1799A positive was higher than that in the negative, and the level of PDGF-B expression in RET/PTC3 was higher than that in RET/PTC1 (P < 0.05). \"'), ('6772', 'BCL2_IGH', '', 'BCL2', 'IGH', '26972651', '21', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Molecular disease was evaluated by nested bcl-2/IgH PCR or clonal IgH rearrangement was available in 33 Rit-RT patients. '), ('6773', 'RET_PTC', '', 'RET', 'PTC', '26825960', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Similarly, DIO3 mRNA levels were higher in PTC samples harboring the BRAF(V600E) mutation as compared with those with RET/PTC1 rearrangement or negative for these mutations (P<0.001).     ///    \"DIO3 mRNA levels and activity were readily detected in K1 (BRAF(V6) (0) (0E)) and, at lower levels, in TPC-1 (RET/PTC1) cells (P<0.007 and P=0.02 respectively). \"'), ('6774', 'RET_PTC', '', 'RET', 'PTC', '23025542', '21', 'follicular adenoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Detection of PAX8/PPARG and RET/PTC rearrangements is feasible in routine air-dried fine needle aspiration smears..     ///    These data are the first to show the feasibility of extracting RNA from routine air-dried FNA smears for the detection of PAX8/PPARG and RET/PTC rearrangements with RT-qPCR.     ///    \"Similarly, RET/PTC was found in 3 of 96 FFPEs and in 4 of 96 FNAs. \"    ///    \"A new method for RNA extraction from routine air-dried FNA smears was established, which allowed analysis for the presence of four variants of PAX8/PPARG and RET/PTC 1 and RET/PTC 3, which were analyzed in 106 routine FNA smears and the corresponding surgically obtained FFPE tissues using real-time quantitative PCR (RT-qPCR). \"'), ('6775', 'THPO_MPL', 't(8;21)  / ', 'THPO', 'MPL', '22337712', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Further investigation revealed that Bcl-xL expression is regulated by thrombopoietin (THPO)/MPL-signaling induced by AE expression.     ///    THPO/MPL-signaling also controls cell cycle reentry and mediates AE-induced self-renewal. '), ('6776', 'MLL_CBP', 't(11;16) / ', 'MLL', 'CBP', '15635450', '21', 'acute myeloid leukemia;myeloproliferative disorder', '', '', '', '', '', '', '', '', 'This model of MLL-CBP therapy-related myeloproliferative disease demonstrates the selectivity of this MLL fusion for GMP cells and its ability to initiate leukemogenesis in conjunction with cooperating mutations..     ///    Inhibition of Hox a9 expression by RNA interference demonstrated that MLL-CBP required Hox a9 for its enhanced cell expansion.     ///    Conditional MLL-CBP targets GMP and models therapy-related myeloproliferative disease..     ///    We utilized a conditional knockin strategy to bypass the embryonic lethality caused by MLL-CBP expression and to assess the immediate effects of induced MLL-CBP expression on hematopoiesis.     ///    \"MLL-CBP altered the gene expression program of GMP, upregulating a subset of genes including Hox a9. \"    ///    \"Following exposure to sublethal gamma-irradiation or N-ethyl-N-nitrosourea (ENU), MLL-CBP mice developed myelomonocytic hyperplasia and progressed to fatal myeloproliferative disorders. \"    ///    \"Within days of activating MLL-CBP, the fusion protein selectively expanded granulocyte/macrophage progenitors (GMP) and enhanced their self-renewal/proliferation. \"'), ('6777', 'P65_P49', 't(14;19) / ', 'P65', 'P49', '1459457', '21', 'chronic lymphocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The bcl-3 protein is able to inhibit the DNA binding and trans-activation of authentic NF-kappa B heterodimers p50-p65 and p49-p65, as well as p50 and p49 homodimers. '), ('6778', 'BCR_ABL1', '', 'BCR', 'ABL1', '17196995', '21', 'colorectal cancer;colorectal carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Our finding BCR and ABL located within two of the instability-associated regions, and the involvement of these two regions occurring coordinately, suggests a system akin to the BCR-ABL translocation of CML may be involved in genomic instability in about one-third of human colorectal carcinomas.. '), ('6779', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '17975013', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'p53 signaling in response to increased DNA damage sensitizes AML1-ETO cells to stress-induced death..     ///    We thus speculate that AML1-ETO may facilitate accumulation of genetic alterations by suppressing endogenous DNA repair.     ///    \"Expression of the AML1-ETO (AE) fusion protein alone is not sufficient to induce leukemia, but the nature of the additional genetic alterations is unknown. \"'), ('6780', 'RET_PTC3', '', 'RET', 'PTC3', '15502856', '21', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The variability in mRNA levels was marked and four carcinoma groups were identified: one lacking RET/PTC rearrangement with balanced RET exon levels similar to those of the normal samples (7/25 cases, 28%), the second (6/25 cases, 24%) with balanced RET expression and very low levels of RET/PTC1, the third with unbalanced RET exons 10-11 and 12-13 expression, high RET/PTC1 levels but no RET/PTC3 (7/25 cases, 28%), and the fourth with unbalanced RET expression, high RET/PTC1 levels and low levels of RET/PTC3 (5/25 cases, 20%).     ///    \"We have analyzed by real-time RT-PCR 25 papillary carcinoma and 12 normal thyroid samples for RET/PTC1, RET/PTC3 and for RET exons 10-11 and 12-13, which are adjacent to the rearrangement site. \"    ///     RET/PTC1 and RET/PTC3 are the markers for papillary thyroid carcinoma.     ///    \"Real-time quantitative RT-PCR identifies distinct c-RET, RET/PTC1 and RET/PTC3 expression patterns in papillary thyroid carcinoma.. \"'), ('6781', 'KIT_CD19', '', 'KIT', 'CD19', '10700466', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Single-cell PCR analysis of the rearrangement status of the Ig heavy chain alleles allows us to order these early stages of B cell development as follows: (i) B220(+)CD19(-)c-Kit(lo)Flt3/Flk-2(hi)lambda5(-), (ii) B220(+)CD19(-)c-Kit(lo)Flt3/Flk-2(hi)lambda5(+) and (iii) B220(+)CD19(+)c-Kit(lo)Flt3/Flk-2(lo)lambda5(+) before B220(+)CD19(+)c-Kit(lo)Flt3/Flk-2(-)lambda5(+) pre-B-I cells. '), ('6782', 'CDKN2A_CDK4', '', 'CDKN2A', 'CDK4', '19011513', '21', 'melanoma\r\r', 'PCR', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.. '), ('6783', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '12727991', '21', 'thyroid carcinoma;follicular adenoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Forty-nine percent of conventional follicular carcinomas had RAS mutations, 36% had PAX8-PPAR gamma rearrangement, and only one (3%) had both.     ///     A series of 88 conventional follicular and H?rthle cell thyroid tumors were analyzed for RAS mutations and PAX8-PPAR gamma rearrangements using molecular methods and for galectin-3 and HBME-1 expression by immunohistochemistry.     ///    H?rthle cell tumors infrequently had PAX8-PPAR gamma rearrangement or RAS mutations.     ///    RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma..     ///    \"In follicular adenomas, 48% had RAS mutations, 4% had PAX8-PPAR gamma rearrangement, and 48% had neither. \"    ///    These results suggest that conventional follicular thyroid carcinomas develop through at least two distinct and virtually nonoverlapping molecular pathways initiated by either RAS point mutation or PAX8-PPAR gamma rearrangement..     ///    \"Follicular carcinomas with PAX8-PPAR gamma typically showed immunoreactivity for galectin-3 but not for HBME-1, tended to present at a younger patient age and be smaller size, and were almost always overtly invasive. \"'), ('6784', 'LI1_EWS', 't(11;22)  / ', 'LI1', 'EWS', '18271016', '21', 'ewing sarcoma;retinoblastoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Together, these results support the role of EWS/LI1 as an inhibitor of cellular senescence and implicate the retinoblastoma family of proteins as key mediators of this inhibition.. '), ('6785', 'NF2_NF1', 't(1;19)(q10;p10) / ', 'NF2', 'NF1', '22789312', '21', 'pilocytic astrocytoma\r\r', '', '', '', '', '', '', '', '', 'Germlin mutations in MSH2/MLH1/PMS2/MSH6, CDKN2A, TSC1/TSC2, PTEN, TP53 and NF1/NF2 predispose to glial tumors in the setting of hereditary cancer predisposition syndromes. '), ('6786', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '7723414', '21', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recent molecular genetic studies however, have shown that BCR and ABL are expressed on both alleles and that the maternal and paternal ABL genes contribute equally often to the BCR-ABL fusion messenger. '), ('6787', 'SAPK_JNK', 't(5;12)  / ', 'SAPK', 'JNK', '10445851', '21', '', '', '', '', '', '', '', '', '', 'Expression of a dominant negative mutant of mitogen-activated protein kinase kinase 4 (MKK4), a direct activator of JNK/SAPK, prevented T/P-induced JNK/SAPK activation.     ///    \"In addition, inhibition of phosphoinositide-3 OH kinase (PI-3 kinase), a promoting survival factor, potentiated the effect of T/P on JNK/SAPK activation. \"    ///    These findings indicate that activation of JNK/SAPK by T/P is related to apoptosis rather than cell proliferation and transformation..     ///    \"Interestingly, expression of T/P was shown to initiate an apoptotic response that was enhanced by treatment of cells with the PI-3 kinase inhibitor LY294002, suggesting that T/P mediated cell death through activation of JNK/SAPK signalling pathway. \"    ///    The oncogenic TEL/PDGFR beta fusion protein induces cell death through JNK/SAPK pathway..     ///    \"This activation was abrogated when the T/P-expressing cells were treated with a specific inhibitor of the PDGFR beta tyrosine kinase, indicating that the activity of the PDGFR beta part of the fusion protein was involved in JNK/SAPK activation. \"'), ('6788', 'ETO_AML1', '', 'ETO', 'AML1', '15618961', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'CEBPalpha mutations only occurred in patients with intermediate cytogenetics and not in 56 children with AML1-ETO, CBFbeta-MYH11, PML-RARalpha or MLL rearrangements. '), ('6789', 'CLTCL_ALK', 'p23;q35 / t(1;2)(q25;p23) / t(2;3)(p23;q21) / ', 'CLTCL', 'ALK', '10807789', '21', 'lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The CLTCL gene is constitutively expressed in lymphoid cells and therefore presumably contributes an active promoter for the CLTCL-ALK gene. '), ('6790', 'RET_PTC', '', 'RET', 'PTC', '17693984', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Similarly to the results obtained by others, there was no coexistence of BRAF (V600E) mutation and RET/PTC and/or Trk rearrangements or RAS mutation in PTC tissue.     ///    The high incidence of RET/PTC and Trk rearrangements or point mutations in RAS and c-MET oncogenes are the genetic hallmarks of PTC. '), ('6791', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '16219715', '21', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In an attempt to clarify such controversies and to find whether or not FVPTC cases share the molecular features of follicular tumors, we searched for the presence of PAX8-PPARgamma rearrangements, RAS mutations, and RAP-1, RAF-1, and BRAF mutations in a series of 40 FVPTCs as well as in 27 follicular thyroid carcinomas (FTCs) and 12 follicular thyroid adenomas (FTAs).     ///    \"In FVPTCs, the PAX8-PPARgamma rearrangement was significantly associated with multifocality and vascular invasion, whereas the RAS mutations were significantly associated with the large tumor size. \"    ///    PAX8-PPARgamma rearrangement is frequently detected in the follicular variant of papillary thyroid carcinoma..     ///    \"association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs.. \"    ///    \"There were three cases of FVPTC, three FTCs and one FTA, harboring both PAX8-PPARgamma rearrangement and RAS mutations. \"    ///    \"Fluorescence in situ hybridization and RT-PCR were used to detect the PAX8-PPARgamma rearrangement and PCR, single strand confirmational polymorphism, and sequencing for searching the mutations. \"    ///    \"The frequency of PAX8-PPARgamma rearrangement was similar in FVPTCs (37.5%), FTCs (45.5%), and FTAs (33.3%). \"'), ('6792', 'MUM1_IRF4', 'p25;q32 / ', 'MUM1', 'IRF4', '12079517', '21', 'B cell chronic lymphocytic leukemia;lymphoma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'MUM1/IRF4 expression is an unfavorable prognostic factor in B-cell chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL).. '), ('6793', 'P73_P63', '', 'P73', 'P63', '20516129', '21', '', '', '', '', '', '', '', '', '', 'This p63/p73 common ancestor gene is found in almost all invertebrates and first duplicates to produce a p53 gene and a p63/p73 ancestor in cartilaginous fish. '), ('6794', 'NPM_ALK', 't(1;2)(q21;p23) / t(2;3)(p23;q21) / t(2;5)(p23;q35) / p23;q35 / ', 'NPM', 'ALK', '10381534', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Moreover, ALK expression was confined to the cytoplasm of the tumor cells in each case, supporting the hypothesis that the observed nuclear localization of NPM-ALK in classical ALCL is not the site of oncogenic activity of the ALK kinase..     ///    \"These two cases were shown by an in vitro kinase assay to express ALK kinases (104 kD and 97 kD, respectively), which differed in size from the classical NPM-ALK fusion product (80 kD). \"'), ('6795', 'NPM_ALK', 't(2;5) / ', 'NPM', 'ALK', '16105984', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Finally, p130Cas-/- (also known as Bcar1-/-) fibroblasts expressing NPM-ALK showed impaired actin filament depolymerization and were no longer transformed compared with wild-type cells, indicating an essential role of p130Cas activation in ALK-mediated transformation..     ///    \"Along with transformation, NPM-ALK induces morphologic changes in fibroblasts and lymphoid cells, suggesting a direct role of ALK in cell shaping. \"    ///    \"In 293 cells and in fibroblasts as well as in human ALK-positive lymphoma cell lines, NPM-ALK was able to bind p130Cas and to induce its phosphorylation. \"    ///    \"Phosphorylation of p130Cas by NPM-ALK was partially independent from Src (tyrosine kinase pp60c-src) kinase activity, as it was still detectable in Syf-/- cells. \"    ///    \"Both of the effects were dependent on ALK kinase activity and on the adaptor protein growth factor receptor-bound protein 2 (Grb2), since no binding or phosphorylation was found with the kinase-dead mutant NPM-ALK(K210R) or in the presence of a Grb2 dominant-negative protein. \"    ///    \"In this study, we used a mass-spectrometry-based proteomic approach to search for proteins involved in cytoskeleton remodeling and identified p130Cas (p130 Crk-associated substrate) as a novel interactor of NPM-ALK. \"'), ('6796', 'ETO_AML1', 't(15;17)  / t(8;21)  / t(12;21)  / ', 'ETO', 'AML1', '9260053', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The genes PML and AML1, and ETO were examined in normal hematopoietic progenitors and their fusions proteins, PML/RAR alpha and AML1/ETO, measured in patients in clinical remission, and important data were presented concerning these proteins and measurement of minimal residual disease. '), ('6797', 'MLL_AF4', 't(4;11)  / t(4;11)(q21;q23) / ', 'MLL', 'AF4', '21233834', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The AF4-MLL oncoprotein becomes activated by Taspase1-mediated hydrolysis, which subsequently leads to a heterodimer of the cleavage products AF4-MLL??N and MLL??C.     ///    This knowledge can now be exploited to design inhibitory decoys in order to destroy the AF4-MLL oncoprotein..     ///    \"Expression of the FYRC domain, or smaller portions thereof, resulted in the inhibition of heterodimer formation, and blocked AF4-MLL multiprotein complex formation with subsequent destruction of the AF4-MLL oncoprotein. \"    ///    \"Here, we attempted to selectively block this initial heterodimerization step, aiming to prevent the oncogenic activation of the AF4-MLL multiprotein complex. \"    ///    \"Thus, it is in principle possible to specifically target the AF4-MLL protein. \"    ///    Previous studies demonstrated that mice transplanted with hematopoietic cells expressing the AF4-MLL fusion protein develop proB ALL. '), ('6798', 'RANKL_OPG', '4p16.3 / ', 'RANKL', 'OPG', '14633785', '21', 'mucositis', '', '', '', '', '', '', '', '', 'The observation that myeloma cells enhance the formation of osteoclasts whose activity or products, in turn, are essential for the survival and growth of myeloma cells forms the basis for a new treatment paradigm aimed at reducing the RANKL/OPG ratio by treatment with RANKL inhibitors and/or MIP inhibitors. '), ('6799', 'RET_PTC3', '', 'RET', 'PTC3', '15671095', '21', 'papillary carcinoma;thyloid cancer\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 was more common than RET/PTC3 after each dose, comprising 80% of all rearrangements.     ///    RET/PTC1 and RET/PTC3 were detected by RT-PCR followed by Southern blotting and hybridization with internal oligonucleotide probes. '), ('6800', 'BCL2_IGH', '', 'BCL2', 'IGH', '8971381', '21', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The contamination of F-NHL cells was evaluated using a nested PCR assay for the detection of bcl-2-IgH rearrangement with a sensitivity of one F-NHL cell in 10(5) normal cells.     ///    These favorable results were confirmed on a large-scale with a blood cell transplant comprising 5.8 x 10(9) nucleated cells in which positive selection of CD34+ cells by the Miltenyi SuperMACS system resulted in: (1) the elimination of F-NHL cells as detected both by flow cytometry and bcl-2-IgH PCR.     ///    \"In two experiments with blood cell transplant fractions of 0.5 x 10(9) nucleated cells, negative selection of CD34+ cells by removal of B cells and other mature cells that naturally adhere to nylon wool fibers decreased the number of CD19+ B cells detectable by flow cytometry but failed to eliminate bcl-2-IgH-positive F-NHL cells detectable by PCR. \"    ///    Elimination of bcl-2-IgH-positive follicular lymphoma cells from blood transplants with high recovery of hematopoietic progenitors by the miltenyi CD34+ cell sorting system.. '), ('6801', 'TRXR3_TRXR1', '', 'TRXR3', 'TRXR1', '18790070', '21', '', '', '', '', '', '', '', '', '', 'Sel include but not limited to glutathione peroxidases (GPx1-GPx6), thioredoxin reductases (TrxR1-TrxR3), iodothyronine deiodinases (ID1-ID3), selenophosphate synthetase 2 (SPS2), 15-kDa Sel (Sel15), SelH, SelI, SelK, SelM, SelN, SelO, SelP, SelR, SelS, SelT, SelV, SelW, as well as the 15-kDa Sel (Fep15), SelJ and SelU found in fish. '), ('6802', 'MUM1_IRF4', 't(6;14) (p25;q32) / ', 'MUM1', 'IRF4', '11455001', '21', 'malignant meningioma;multiple myeloma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Analysis of MUM1/IRF4 protein expression using tissue microarrays and immunohistochemistry.. '), ('6803', 'RET_PTC1', '', 'RET', 'PTC1', '9768676', '21', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We conclude that RET/PTC1 is the predominant rearrangement in PTCs from adults with a history of external irradiation in childhood.     ///    There was no association between the presence or absence of RET/PTC in the patient\'s tumor and clinical parameters.     ///    \"Four of the PTCs contained RET/PTC1, confirmed by sequencing, and none contained RET/PTC2 or RET/PTC3. \"    ///    RET/PTC and RET tyrosine kinase expression in adult papillary thyroid carcinomas.. '), ('6804', 'RET_PTC3', '', 'RET', 'PTC3', '23327964', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'There were 17 (35.4%) cases of RET/PTC1 and 6 (12.5%) of RET/PTC3, with no multiple rearrangements.     ///    BRAF T1799A mutation and RET/PTC3 rearrangement in patients suggests a poorer prognosis than the negative one.     ///    The BRAF T1799A mutation and RET/PTC3 rearrangement may strengthen the expression of PDGF-B.     ///    \"The level of PDGF-B expression in BRAF T1799A positive was higher than that in the negative, and the level of PDGF-B expression in RET/PTC3 was higher than that in RET/PTC1 (P < 0.05). \"'), ('6805', 'NUP98_HHEX', 't(10;11)(q23;p15) / ', 'NUP98', 'HHEX', '18388181', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Some of these genes (Hoxa5, Hoxa9, Flt3) are deregulated in NUP98/HHEX-induced murine leukemia as well as in human blasts carrying this fusion and might represent bona fide therapeutic targets..     ///    A latency period of 9 months and its clonal character suggest that NUP98/HHEX is necessary but not sufficient for disease induction.     ///    Transplantation of bone marrow cells expressing NUP98/HHEX leads to transplantable acute leukemia characterized by extensive infiltration of leukemic blasts expressing myeloid markers (Gr1(+)) as well as markers of the B-cell lineage (B220(+)).     ///    Expression of NUP98/HHEX in murine bone marrow cells leads to aberrant self-renewal and a block in normal differentiation that depends on the integrity of the NUP98 GFLG repeats and the HHEX homeodomain.     ///    Comparative gene expression profiling in primary bone marrow cells provided evidence for the presence of common targets in cells expressing NUP98/HOXA9 or NUP98/HHEX.     ///    Leukemogenic mechanisms and targets of a NUP98/HHEX fusion in acute myeloid leukemia..     ///    \"Expression of EGFP-NUP98/HHEX fusions showed a highly similar nuclear localization pattern as for other NUP98/homeodomain fusions, such as NUP98/HOXA9. \"'), ('6806', 'NUP98_HOXA9', 't(10;11)(q23;p15) / ', 'NUP98', 'HOXA9', '18388181', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Comparative gene expression profiling in primary bone marrow cells provided evidence for the presence of common targets in cells expressing NUP98/HOXA9 or NUP98/HHEX.     ///    \"Expression of EGFP-NUP98/HHEX fusions showed a highly similar nuclear localization pattern as for other NUP98/homeodomain fusions, such as NUP98/HOXA9. \"'), ('6807', 'SRC_ABL1', 't(9;22)(q34;q11) / ', 'SRC', 'ABL1', '19075651', '21', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This drug is a dual SRC-ABL kinase inhibitor, active in most clinically relevant BCR-ABL mutations, except highly resistant T315I. '), ('6808', 'RARA_PML', 't(15;17)  / t(15;17) / ', 'RARA', 'PML', '16737919', '21', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Fluorescence in situ hybridization with a PML/RARA dual-color DNA probe showed the fusion signals on der(15) and the residual PML signals on der(22). '), ('6809', 'RET_PTC3', '', 'RET', 'PTC3', '19765726', '21', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The primary tumor genotype in 217 patients with papillary thyroid cancer was determined for six common somatic genetic alterations (RET/PTC1, RET/PTC3, and NTRK1 rearrangements, and BRAF V600E, KRAS, and NRAS hotspot mutations) by PCR and direct sequencing, and nested PCR. '), ('6810', 'ETO_AML1', '', 'ETO', 'AML1', '19043539', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' A reciprocal translocation involving chromosomes 8 and 21 generates the AML1/ETO oncogenic transcription factor that initiates acute myeloid leukemia by recruiting co-repressor complexes to DNA.     ///    Genome-wide chromatin immunoprecipitation and expression profiling were exploited to identify AML1/ETO-dependent transcriptional regulation.     ///    \"AML1/ETO interferes with the function of its wild-type counterpart, AML1, by directly targeting AML1 binding sites. \"    ///    AML1/ETO oncoprotein is directed to AML1 binding regions and co-localizes with AML1 and HEB on its targets..     ///    \"Furthermore, the level of HEB protein was increased in both primary cells and cell lines expressing AML1/ETO. \"    ///    \"The DNA binding profile of the E-protein HEB was grossly rearranged upon expression of AML1/ETO, and the fusion protein was found to co-localize with both AML1 and HEB on many of its regulated targets. \"    ///    \"However, transcriptional regulation determined by AML1/ETO probably relies on a more complex network, since the fusion protein has been shown to interact with a number of other transcription factors, in particular E-proteins, and may therefore target other sites on DNA. \"    ///    Our results suggest a major role for the functional interaction of AML1/ETO with AML1 and HEB in transcriptional regulation determined by the fusion protein..     ///    \"AML1/ETO was found to co-localize with AML1, demonstrating that the fusion protein follows the binding pattern of the wild-type protein but does not function primarily by displacing it. \"'), ('6811', 'TPR_ALK', 't(2;5)(p23;q35) / t(2;5)  / ', 'TPR', 'ALK', '9121481', '21', 'non Hodgkin lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This engineered TPR-ALK hybrid protein, which transformed cells almost as efficiently as NPM-ALK, was localized solely within the cytoplasm of cells. '), ('6812', 'SHH_MBS', '', 'SHH', 'MBS', '22265402', '21', 'Li-Fraumeni syndrome;medulloblastoma', '', '', '', '', '', '', '', '', 'Integrating TP53 status with microarray and deep sequencing-based DNA rearrangement data in additional patients reveals a striking association between TP53 mutation and chromothripsis in SHH-MBs. '), ('6813', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '8874178', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Because the ratio of expression of PML/RAR alpha to wild-type RAR alpha and PML may be important in maintaining the dominant negative block of myelocytic differentiation, these data suggest a molecular mechanism for restoration by tRA normal myeloid differentiation in APL cells..     ///    We further show that this loss of PML/ RAR-alpha is not limited to the unique APL cell line. '), ('6814', 'BCR1_PML', '', 'BCR1', 'PML', '8161469', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'DNA sequence of PML-bcr1 and primary structure of the junctional region of reciprocal chromosomal translocation in a patient have been determined in this paper.     ///    \"Our work has demonstrated that the PML breakpoints in APL patients are clustered in two limited regions, PML-bcr1 and PML-bcr2, separated from each other by about 10 kb. \"'), ('6815', 'NPM_ALK', 't(2,5)(p23;q35) /  / ', 'NPM', 'ALK', '21737449', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here, we show that PIKfyve associates with NPM-ALK and that the interaction involves the 181-300 region of the oncogene. '), ('6816', 'IGH_BCL2', '', 'IGH', 'BCL2', '12665842', '21', 'non Hodgkin Lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'PCR amplification of the Bcl-2/IgH rearrangement was performed at diagnosis, on stem cell collections before and after purging and on bone marrow and blood samples after ASCT.     ///    PCR detection of residual Bcl-2/IgH-positive cells after high-dose therapy with autologous stem cell transplantation is a prognostic factor for event-free survival in patients with low-grade follicular non-Hodgkin\'s lymphoma..     ///    \" This study was designed to evaluate the results of high-dose therapy followed by purged autologous stem cell transplantation (ASCT) for patients with low-grade follicular non Hodgkin\'s lymphoma (LGFL), and the prognostic significance of PCR detection of residual Bcl-2/IgH-positive cells after ASCT. \"'), ('6817', 'TEL_AML1', '', 'TEL', 'AML1', '12571459', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The markers analyzed included immunoglobulin heavy chain (IgH), T-cell receptor (TCR) and TEL-AML1 rearrangements.     ///    \"The IgH, TCR and TEL-AML1 markers can be used as targets by real-time PCR under the same cycling profile, allowing quantitation of MRD in more 95% of patients with pre-B ALL. \"'), ('6818', 'PTEN_PI3K', 't(1;19)(q10;p10) / ', 'PTEN', 'PI3K', '22789312', '21', 'pilocytic astrocytoma\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'NF1-RAS-RAF-MAPK and PTEN-PI3K-AKT-TSC-mTOR). '), ('6819', 'MUM1_IRF4', 't(6;14;18)(p25;q32;q21) / t(14;18)(q32;q21) / t(8;22) / ', 'MUM1', 'IRF4', '23995111', '21', 'leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'On the other hand, MUM1/IRF4 functions as a tumor suppressor in c-MYC-induced B-cell leukemia.     ///    \"MUM1/IRF4 has been found to induce c-MYC expression, and in turn, MYC transactivates MUM1/IRF4, creating a positive autoregulatory feedback loop. \"    ///    \"The present rare case arouses interest in view of the possible \"\"dual\"\" activation of both c-MYC and MUM1/IRF4 through two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2.. \"    ///    \"However, the interfollicular larger cells showed plasmacytic differentiation with diminished CD20, Bcl-2, Bcl-6, and positive intracytoplasmic IgM, and co-expression of MUM1/IRF4 and CD138 with increased Ki-67-positive cells (> 90%). \"    ///    \"The intrafollicular tumor cells had a germinal center phenotype with the expression of surface IgM, CD10, Bcl-2, Bcl-6, and MUM1/IRF4. \"'), ('6820', 'IGH_BCL2', '', 'IGH', 'BCL2', '9078353', '21', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A molecular marker (CDR3 rearrangement, T cell beta receptor [TC beta R] rearrangement, or BCL-2/IgH rearrangement) was identified from analysis of the diagnostic tissue in 17 of 20 patients. '), ('6821', 'ID3_ID1', '', 'ID3', 'ID1', '18790070', '21', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Sel include but not limited to glutathione peroxidases (GPx1-GPx6), thioredoxin reductases (TrxR1-TrxR3), iodothyronine deiodinases (ID1-ID3), selenophosphate synthetase 2 (SPS2), 15-kDa Sel (Sel15), SelH, SelI, SelK, SelM, SelN, SelO, SelP, SelR, SelS, SelT, SelV, SelW, as well as the 15-kDa Sel (Fep15), SelJ and SelU found in fish. '), ('6822', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '22852078', '21', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK: The Prototypic Member of a Family of Oncogenic Fusion Tyrosine Kinases..     ///    \"Finally, using ALCL as an example, we will examine three key signalling pathways activated by NPM-ALK that contribute to proliferation and survival in ALCL.. \"    ///    \"The NPM-ALK fusion protein generated by this translocation is a constitutively active tyrosine kinase, and much research has focused on characterizing the signalling pathways and cellular activities this oncoprotein regulates in ALCL. \"'), ('6823', 'BCL2_IGH', '', 'BCL2', 'IGH', '19616848', '21', 'B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This sensitivity is proved to be equivalent to that of detection of bcl2/IgH rearrangement by real-time quantitative PCR. '), ('6824', 'ZMYND8_RELA', 't(11;20)(p11;q11) / ', 'ZMYND8', 'RELA', '23667654', '21', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11).     ///    A ZMYND8-RELA fusion was ranked first.     ///    \"The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.. \"    ///    RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. '), ('6825', 'TEL_AML1', '', 'TEL', 'AML1', '21459790', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Additionally, cases with TEL-AML1 or MLL rearrangements exhibited two-fold higher LMO2 expression compared to cases with BCR-ABL rearrangements or hyperdyploid karyotype. '), ('6826', 'FEZ1_DISC1', '', 'FEZ1', 'DISC1', '17664024', '21', '', '', '', '', '', '', '', '', '', 'In schizophrenia with DISC1 translocation carrier, the DISC1-Fez1 and DISC1-DBZ interaction is disrupted, and it is likely that neural circuit formation remains immature, suggesting that schizophrenia is a neurodevelopmental disease.     ///    The DISC1-Fez1 interaction is up-regulated by nerve growth factor (NGF) and involved in neurite extension. '), ('6827', 'ZNF198_FGFR1', 't(4;14)(p16;q32) / t(4;14)  / t(4;14) / ', 'ZNF198', 'FGFR1', '21316102', '21', 'multiple myeloma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Cell viability, FGFR3 and ZNF198-FGFR1 phosphorylation and apoptosis were evaluated by growth inhibition assays, immunoblotting and fluorescence-activated cell sorting analysis, respectively.     ///    \"PD173074 and sunitinib differentially inhibited the growth of Ba/f3 cells expressing ZNF198-FGFR1 (GI(50)=10 nM and 730 nM, versus GI(50) >1 ?M and 2.7 ?M for parental cells. \"    ///    \"Small molecule receptor tyrosine kinase inhibitors (PD173074, sunitinib (SU-11248), vandetanib (ZD6474) and vatalanib (PTK-787)) with varying degrees of inhibitory activity and selectivity against FGFR, were assessed in Ba/f3 cells expressing ZNF198-FGFR1 and MM cell lines. \"'), ('6828', 'MALT1_API2', 't(11;18)(q21,q21) /  / ', 'MALT1', 'API2', '17334391', '21', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'API2-MALT1 promotes cell survival and proliferation via activation of nuclear factor-kappaB (NF-kappaB).     ///    We find that the API2 moiety mediates oligomerization of API2-MALT1 as well as interaction with tumor necrosis factor receptor-associated factor 2 (TRAF2). '), ('6829', 'PAR6_PARD6A', '11p15.2 / ', 'PAR6', 'PARD6A', '12469229', '21', 'epidermoid carcinoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'Because LGN/Pins, PARD3/Par-3Bazooka, PARD6A/Par-6 and PRKCZ/aPKC genes implicated in asymmetrical cell division are evolutionarily and functionally conserved, human INSC protein might be implicated in asymmetrical cell division of human neural stem cells and other stem cells.. '), ('6830', 'RARA_PMI', '', 'RARA', 'PMI', '10774514', '21', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Likewise RAR alpha/PML rearrangement was detected in some post-consolidation samples (2/11) that all were PMI/RAR alpha negatives.     ///    In a patient in complete remission RAR alpha/PML preceded the positivity of PML/RAR alpha and persisted after PMI/RAR alpha negativization. '), ('6831', 'P80_ALK', 'p23;q35 / ', 'P80', 'ALK', '10741140', '21', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Indeed, it is indicated that cytotoxic ALCL cases may be either p80/ALK positive or negative, suggesting that the cytotoxicity and expression of p80/ALK are independent phenomena among the cases of ALCL of T- and null-cell type.     ///    \"However, these features are shared, though to a lesser degree, by other p80/ALK-negative lymphoid neoplasms. \"    ///    \"Recently, some investigators including us asserted that these p80NPM/ALK or ALK1-positive(p80/ALK+) ALCLs represent a distinct genetic entity with occurrence in young patients and a favorable prognosis, and should be differentiated from the p80/ALK- tumors with the relatively aggressive clinical course. \"'), ('6832', 'SF1_AD4BP', '', 'SF1', 'AD4BP', '15925324', '21', '', '', '', '', '', 'Receptor', '', '', '', 'Molecular cloning and expression of Ad4BP/SF-1 in the serial sex changing gobiid fish, Trimma okinawae..     ///    \"Therefore, Ad4BP/SF-1 probably acts as an important indirect regulator of oocyte growth and maturation at female-phase of serial sex changing gobiid fish T. \"    ///    \"Second, transcript levels of Ad4BP/SF-1 were measured in the ovary and testis of the same individuals. \"    ///    \"Moreover, ovarian expression of Ad4BP/SF-1 increased during vitellogenesis and declined sharply during the post-vitellogenic period. \"    ///    Ad4BP/SF-1 increased in parallel with the onset of the female-phase and decreased as female became male.     ///    \"First, a cDNA encoding Ad4BP/SF-1 was cloned from ovarian follicles. \"    ///    \"Ad4BP/SF-1 was expressed in gonadal tissues, brain, and kidney. \"    ///    The open reading frame of goby Ad4BP/SF-1 encodes a protein of 489 amino acids.     ///     Involvement of Ad4BP/SF-1 was investigated using the serial sex changing goby Trimma okinawae.     ///    \"Finally, the expression profile of Ad4BP/SF-1 was measured during serial sex change in the ovary. \"'), ('6833', 'RET_PTC', '', 'RET', 'PTC', '16630482', '21', 'lymphocytic thyroiditis\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '[Expressions of wildtype-RET and RET/PTC rearrangements in sporadic adult papillary thyroid carcinoma and their clinicopathologic correlation]..     ///    \"(3) Fourteen PTCs (21.2%) expressed RET/PTC, including five cases expressing RET/PTC1 and nine cases expressing RET/PTC3. \"    ///    Six cases (9%) expressed both RET/PTC and WT-RET.     ///    (4) Statistic analysis did not show any correlation between the expression of WT-RET or RET/PTC and clinicopathologic parameters.     ///    The expression of RET/PTC was specific to PTC.     ///     To evaluate the expressions of wildtype-RET (WT-RET) and RET/PTC in sporadic adult papillary thyroid carcinoma and to investigate their clinicopathologic correlation. '), ('6834', 'P52_NFKB1', 't(10;14)  / ', 'P52', 'NFKB1', '8336950', '21', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The similarity between p100 and p105 is also reflected by equivalent protein interactions of their processing products: like NF-kappa B-p50, also NF-kappa B-p52 heteromerised promiscuously with all rel-factors tested. '), ('6835', 'RET_PTC1', '', 'RET', 'PTC1', '25768669', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Sorafenib and cabozantinib had marked effects on cell proliferation, cell cycle arrest, and signal transduction pathways in PTC cells harboring RET/PTC1 rearrangement.     ///    This study aimed to evaluate the effect of tyrosine kinase inhibitors on iodide-handling and glucose-handling gene expression in BHP 2-7 cells harboring RET/PTC1 rearrangement. '), ('6836', 'NFKB1_EBP', 't(12;16)(q13;p11) / ', 'NFKB1', 'EBP', '18850010', '21', 'liposarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Expression studies of the IL8 promoter harboring a C/EBP-NF-kappaB composite site pinpointed the importance of NF-kappaB for IL8 expression in FUS-DDIT3-expressing cells. '), ('6837', 'CDKN2B_CDKN2A', 't(1;19)(q10;p10) / ', 'CDKN2B', 'CDKN2A', '22789312', '21', 'pilocytic astrocytoma\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Single nucleotide polymorphisms in TERT,CCDC26, CDKN2A/CDKN2B, RTEL, EGFR and PHLDB1 confer an inherited susceptibility to glial tumors.. '), ('6838', 'RET_PTC', '', 'RET', 'PTC', '21498916', '21', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements were analyzed by RT-PCR/Southern blotting.     ///    \"The BRAF(V600E) was found in 84/266 (31.6%) cases, RAS mutations in 11/266 (4.1%) and RET/PTC in 55/266 (20.7%. \"    ///    42/266 (15.8%) RET/PTC1 and 13/266 (4.9%) RET/PTC3). '), ('6839', 'SF1_AD4BP', '', 'SF1', 'AD4BP', '9831646', '21', '', '', '', '', '', 'Receptor', '', '', '', 'Besides mammals, however, the SF-1/Ad4BP cDNA has only been isolated to date in fish and birds.     ///    \" SF-1/Ad4BP is a transcriptional factor that was originally found to be a mammalian homologue of the Drosophila Ftz-F1 (fushi tarazu factor 1) (), and transcribed from a gene designated the Ftz-F1 gene (). \"    ///    \"Here, we propose the use of SF-1/Ad4BP instead of Ftz-F1 for the gene that encodes SF-1/Ad4BP in vertebrates.. \"    ///    \"Molecular cloning and expression of the SF-1/Ad4BP gene in the frog, Rana rugosa.. \"    ///    \"SF-1/Ad4BP mRNA was expressed in the testes, brains, adrenals/kidneys and spleens, but not ovaries, of adult frogs. \"    ///    \"In addition, we also cloned the 5\'-untranslated region (4.6kb) of the SF-1/Ad4BP gene with exons I and II. \"    ///    \"It encoded a protein of 468 amino acids, and its open reading frame (ORF) shared 70% similarity with that of chicken OR2.1 (a SF-1/Ad4BP homologue) and 62% with bovine SF-1/Ad4BP. \"    ///    \"Thus, the name of Ftz-F1 is not adequate for the gene coding SF-1/Ad4BP. \"    ///    \"In this study, we succeeded to isolate frog (Rana rugosa) SF-1/Ad4BP cDNA from a testis lambdagt10 cDNA library. \"    ///    Genomic structure analysis revealed that frog SF-1/Ad4BP was also transcribed from the same gene as that of mammals. '), ('6840', 'CD38_CD123', 't(15;17) / t(8;21) / t(12;21)  / t(9;22)  / ', 'CD38', 'CD123', '24257300', '21', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Among the 13 children with AML, there were 10 CD34(+)CD38(-)CD123(+) and CD33(+) cases, 10 CD44(+) cases, 10 CD96(+) cases, and 5 CD90(+) cases. '), ('6841', 'KCNQ5_KCNQ3', 't(3;8) (q21;q24) / ', 'KCNQ5', 'KCNQ3', '23596459', '21', 'benign neonatal convulsion;rolandic epilepsy', '', '', '', '', '', '', '', '', 'Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.. '), ('6842', 'EML4_ALK', '', 'EML4', 'ALK', '24926551', '21', 'lung cancer;adenocarcinoma\r\r', 'RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The most common abnormality was EGFR mutation (29%), followed by EML4-ALK rearrangement (5%), KRAS mutation, and EGFR amplification (4%, each). '), ('6843', 'RET_PTC', '', 'RET', 'PTC', '21173509', '21', 'thyroid nodule\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'By the higher sensitive Southern-blot on RT-PCR method, RET rearrangements were present in 36% of papillary thyroid carcinomas (RET/PTC-1, 12%.     ///    Prevalence of RET/PTC rearrangement in benign and malignant thyroid nodules and its clinical application..     ///    \"These results indicate that molecular testing of thyroid nodules for RET/PTC must take into account of its high prevalence in benign nodules, inducing false positive diagnoses when the highly sensitive assay Southern-blot on RT-PCR is used. \"    ///    \"RET/PTC-3, 20%. \"'), ('6844', 'BCR_ABL1', 't(9,22)  / t(9,22)  / t(9;22) /  / ', 'BCR', 'ABL1', '10654081', '21', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition to this, chromosomes 9 and 22 were frequently associated in pairs detected as false-positive ABL-BCR fusions. '), ('6845', 'MBR_BCL2', '', 'MBR', 'BCL2', '25549806', '21', 'ovarian cancer', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'These data indicate that blood BCL2-MBR translocations represent lymphoma precursor clones with malignant potential. '), ('6846', 'MEK_ERK', 't(15;17) / ', 'MEK', 'ERK', '18445086', '21', '', '', '', '', '', '', '', '', '', 'The role of the MEK/ERK pathway in PML/RARalpha expression, differentiation, proliferation and apoptosis in APL cells was analysed using specific MEK inhibitors.     ///    \"The aberrant function of PML/RARalpha, together with the constitutive activation of the mitogen-activated protein/extracellular signal-regulated kinase (MEK/ERK) signalling pathway, regulates the ability of haematopoietic cells to proliferate, differentiate, and escape from apoptotic episodes. \"    ///    \"Taken together, our data suggest a new role of MEK/ERK pathway in the pathogenesis of APL, thus supporting the use of MEK/ERK inhibitors as an efficient therapeutic strategy for this haematological malignancy.. \"    ///    \"The blockade of MEK/ERK pathway resulted in caspase-dependent degradation of PML/RARalpha, and attenuation of the cell differentiation induction. \"    ///    \"To our knowledge, this is the first report to show that PML/RARalpha was suppressed by MEK/ERK inhibition, through a mechanism dependent on caspase activation. \"'), ('6847', 'TCRD_RAG1', '', 'TCRD', 'RAG1', '12080179', '21', '', 'PCR', '', '', '', '', '', '', '', 'The intensity ratio of amplification products, TCRD/RAG1, corresponds to the portion of cells containing a rearrangement. '), ('6848', 'PPAR_CREB3L2', '', 'PPAR', 'CREB3L2', '25148236', '21', '', 'PCR', '', '', '', '', '', '', '', 'We also detected oncogenic rearrangements not previously associated with FVPTC, including TFG-ALK and CREB3L2-PPAR?. '), ('6849', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '12707378', '21', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Two homologues of the SSX gene (ie, SSX1 and SSX2) are involved in the vast majority of SS and the SYT-SSX1 type of fusion has been associated with inferior clinical outcome. '), ('6850', 'KISS1R_KISS1', '', 'KISS1R', 'KISS1', '18045739', '21', '', '', '', '', '', 'Receptor', '', '', '', 'Evidence for the existence of a functional Kiss1/Kiss1 receptor pathway in fish..     ///    \"This is the first report of the existence and characterization of the Kiss1 gene outside the mammalian taxa, suggesting that a functional Kiss1/Kiss1 receptor pathway is conserved across vertebrate species.. \"'), ('6851', 'BCR_ABL1', 't(9;22) / ', 'BCR', 'ABL1', '25840461', '21', 'myeloproliferative disorder;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Given that the BCR-ABL1 oncogene is a known key cause of CML, it has led to the development of numerous small molecule tyrosine-kinase inhibitors (TKIs), which target the specific oncogene mutation in CML.     ///    \"The resulting translocation leads to the development of the BCR-ABL1 oncogene, a constitutively active fusion protein, which leads to uncontrolled cell proliferation and reduced apoptosis and has a clear association with driving the malignant activity of CML cells. \"'), ('6852', 'RARA_PLZF', '', 'RARA', 'PLZF', '11022230', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In acute promyelocytic leukemia (APL) cells with rearrangement of retinoic acid receptor a (RAR alpha) (including: PML-RAR alpha, PLZF-RAR alpha, NPM-RAR alpha, NuMA- RAR alpha or STAT5b-RAR alpha) as a result of chromosomal translocations, the RA signal pathway is disrupted and myeloid differentiation is arrested at the promyelocytic stage. '), ('6853', 'CD33_CD13', 't(12;21)  / t(9;22)  / t(2;1;19)  / t(7;11;20) / ', 'CD33', 'CD13', '12935929', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The evaluation of overexpression profile revealed increased occurrence of double CD13/CD33 positivity in patients with common recurrent chromosomal abnormalities (in 70% of cases). '), ('6854', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '20454865', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The NPM-ALK peptide interacts with the hydrophobic surface of the PTB domain and intermolecularly extends the PTB beta-sheet.     ///    \"One of the interacting partners of NPM-ALK is the adaptor protein, Suc1-associated neurotrophic factor-induced tyrosine-phosphorylated target (SNT), and mutations that deprive NPM-ALK of all three of the SNT-binding sites significantly reduced the transforming activity. \"    ///    \"First, by isothermal titration calorimetry, we found that the phosphorylation-independent binding site in NPM-ALK interacts with the SNT-2 PTB domain more tightly than the phosphorylation-dependent binding sites. \"    ///    \"Second, the solution structure of the SNT-2 PTB domain in complex with the nonphosphorylated NPM-ALK peptide was determined by nuclear magnetic resonance spectroscopy. \"    ///    \"In this study, the interactions of the three binding sites in NPM-ALK with the phosphotyrosine binding (PTB) domain of SNT-2 were analyzed. \"'), ('6855', 'IGF2_H19', 't(11;15) / ', 'IGF2', 'H19', '20503324', '21', 'recurrent miscarriage', '', '', '', '', '', '', '', '', ' The role of 11p15 disturbances in the aetiology of Silver-Russell syndrome (SRS) is well established: in addition to hypomethylation of the H19/IGF2 differentially methylated regions, five patients with a duplication of maternal 11p15 material have been described. '), ('6856', 'RET_PTC1', '', 'RET', 'PTC1', '21880806', '21', 'thyroid carcinoma', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Residual material from 1056 consecutive thyroid FNA samples with indeterminate cytology was used for prospective molecular analysis that included the assessment of cell adequacy by a newly developed PCR assay and testing for a panel of mutations consisted of BRAF V600E, NRAS codon 61, HRAS codon 61, and KRAS codons 12/13 point mutations and RET/PTC1, RET/PTC3, and PAX8/PPAR? rearrangements.     ///    \"The collected material was adequate for molecular analysis in 967 samples (92%), which yielded 87 mutations including 19 BRAF, 62 RAS, 1 RET/PTC, and five PAX8/PPAR?. \"'), ('6857', 'RARA_PL', '', 'RARA', 'PL', '21248444', '21', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' Patients with a presence of Promyelocytic Leukemia-Retinoic Acid Receptor Alpha (PML-RARA) genes rearrangement predict a favorable response to all-trans retinoic acid (ATRA), and a significant improvement in survival.     ///    \"Therefore, establishing the presence of PML-RARA rearrangement is important for optimal patient management. \"'), ('6858', 'RET_PTC', '', 'RET', 'PTC', '12907632', '21', 'papillary carcinoma;melanoma;follicular adenoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Immunohistochemical staining was conducted to evaluate RET/PTC rearrangements by using two different anti-RET antibodies.     ///    A second genetic alteration frequently involved in PTC is RET/PTC rearrangements.     ///    \"To test whether BRAF mutation may cooperate with RET/PTC rearrangements in the oncogenesis of PTC, we tested whether BRAF-mutated PTCs were also positive for RET/PTC rearrangements. \"    ///    These observations suggest that mutated BRAF gene may cooperate with RET/PTC to induce the oncogenesis of PTC.. '), ('6859', 'IGH_BCL2', '', 'IGH', 'BCL2', '10653868', '21', 'acute myeloid leukemia;follicular lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' To evaluate the long-term results of high-dose therapy (HDT) in follicular lymphoma, with specific emphasis on the prognostic significance of polymerase chain reaction (PCR)-detectable Bcl-2/IgH rearrangements.     ///    \"For patients bearing Bcl-2/IgH rearrangements, in univariate and multivariate analyses, absence of a PCR-detectable Bcl-2/IgH rearrangement during follow-up was associated with a significantly lower risk of recurrence (adjusted HR, 0.13. \"    ///    \"For all 99 patients, in multivariate analysis, absence of the Bcl-2/IgH rearrangement at the time of diagnosis (hazards ratio [HR], 0.39. \"    ///    These results confirm that elimination of cells bearing the Bcl-2/IgH rearrangement is highly desirable and should be attempted. '), ('6860', 'RET_PTC1', '', 'RET', 'PTC1', '15502856', '21', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The variability in mRNA levels was marked and four carcinoma groups were identified: one lacking RET/PTC rearrangement with balanced RET exon levels similar to those of the normal samples (7/25 cases, 28%), the second (6/25 cases, 24%) with balanced RET expression and very low levels of RET/PTC1, the third with unbalanced RET exons 10-11 and 12-13 expression, high RET/PTC1 levels but no RET/PTC3 (7/25 cases, 28%), and the fourth with unbalanced RET expression, high RET/PTC1 levels and low levels of RET/PTC3 (5/25 cases, 20%).     ///    \"We have analyzed by real-time RT-PCR 25 papillary carcinoma and 12 normal thyroid samples for RET/PTC1, RET/PTC3 and for RET exons 10-11 and 12-13, which are adjacent to the rearrangement site. \"    ///     RET/PTC1 and RET/PTC3 are the markers for papillary thyroid carcinoma.     ///    \"The published data suggest that a wide range in expression levels may contribute to the different frequency of c-RET and, particularly, of RET/PTC detection. \"    ///    \"Real-time quantitative RT-PCR identifies distinct c-RET, RET/PTC1 and RET/PTC3 expression patterns in papillary thyroid carcinoma.. \"    ///    Our results indicate that the variability in c-RET and RET/PTC mRNA levels contributes to the apparent inconsistencies in their reported detection rates and should be taken into account not only for diagnostic purposes but also to better understand the role of c-RET activation in thyroid tumorigenesis..     ///    Papillary carcinomas with high RET/PTC1 expression showed an association trend for large tumor size (P=0.063). '), ('6861', 'BCL2_BAX', '', 'BCL2', 'BAX', '26168959', '21', 'head and neck cancer', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The elevated MT2A, BAX, EGF and JUN expression was associated with the influence of tumour cells on the rearrangement of healthy tissues, as well as a significant shift in the BAX/BCL2 ratio. '), ('6862', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21623182', '21', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Recently, TMPRSS2:ERG gene rearrangement was found to be highly specific for and detected in approximately 50% of prostate cancer.     ///    Positive immunohistochemical staining with a novel anti-ERG antibody highly correlated with TMPRSS2:ERG gene rearrangement status. '), ('6863', 'IGH_BCL2', '', 'IGH', 'BCL2', '26239087', '21', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Bcl-2/IgH rearrangements can be quantified in follicular lymphoma (FL) from peripheral blood (PB) by polymerase chain reaction (PCR).     ///    A positive posttreatment Bcl-2/IgH status was associated with shorter PFS (8.7 months vs not reached.     ///    \"At inclusion, 114 patients (66%) tested positive and 59 (34%) were negative for Bcl-2/IgH. \"    ///    Our data suggest that pre- and posttreatment Bcl-2/IgH levels from PB have significant prognostic value for PFS in FL patients receiving first-line immunochemotherapy.     ///    Prognostic value of circulating Bcl-2/IgH levels in patients with follicular lymphoma receiving first-line immunochemotherapy..     ///    \"We therefore prospectively studied PB Bcl-2/IgH levels from 173 first-line FL patients who were consecutively enrolled, randomized, and treated within the multicenter phase 3 clinical trial NHL1-2003 comparing bendamustine-rituximab (B-R) with rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone. \"    ///    No PFS difference between treatment arms was observed in Bcl-2/IgH-positive patients.     ///    The prognostic value of Bcl-2/IgH levels in FL remains controversial.     ///    \"High pretreatment Bcl-2/IgH levels had an adverse effect on progression-free survival (PFS) compared with intermediate or low levels (high vs intermediate: hazard [HR], 4.28. \"    ///    \"By multivariate analysis, the pretreatment Bcl-2/IgH level was the strongest predictor for PFS. \"'), ('6864', 'TEL_AML1', 'p13;q22 / t(12;21)  / ', 'TEL', 'AML1', '9332479', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Low frequency of TEL/AML1 in adult acute lymphoblastic leukemia..     ///    \"In this patient, TEL/AML1 was still detectable in complete hematologic remission. \"    ///    \"To determine the frequency of TEL/AML1 in adult ALL, we studied 4 cases of T lineage ALL and 26 cases of B lineage ALL. \"'), ('6865', 'NKX2-5_BCL11B', '', 'NKX2-5', 'BCL11B', '16531254', '21', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'High NKX2-5 expression was also found in the T-cell lines PEER and CCRF-CEM, which harbor an NKX2-5-BCL11B rearrangement, and in the embryonic kidney cell line 293. ');
