INSERT INTO `ChimerPub_dump` VALUES ('6866', 'P65_P50', 't(14;19) / ', 'P65', 'P50', '1459457', '21', 'chronic lymphocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Removal of the amino-terminal sequences of the bcl-3 protein generates a protein that inhibits the DNA binding of the p50-p65 heterodimer but, like the 37-kD (I kappa B alpha) protein, is no longer able to inhibit the binding of the p50 and p49 homodimers with kappa B DNA.     ///    \"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. \"'), ('6867', 'RET_PTC', '', 'RET', 'PTC', '9315093', '21', 'papillary carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In conclusion, our results confirm the crucial role played by the ret proto-oncogene activating rearrangements in the development of radiation-associated thyroid tumors appearing after therapeutic or accidental ionizing irradiation, and show, for the first time, the presence of RET/PTC genes in follicular adenomas appeared after external irradiation..     ///    \"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. \"'), ('6868', 'TFEB_TFE3', '', 'TFEB', 'TFE3', '23817689', '21', 'renal cell carcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Translocation renal cell carcinoma (tRCC) is a rare subtype of kidney cancer involving the TFEB/TFE3 genes.     ///    Our results reveal genomic heterogeneity of tRCC with similarities to other renal tumor subtypes and raise important questions about the role of TFEB/TFE3 translocations and other chromosomal imbalances in tRCC biology.. '), ('6869', 'IRM_FOS', '', 'IRM', 'FOS', '9797757', '21', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'In contrast, c-fos-irm was present in all steroid naive subjects but in only two of the eight subjects treated with BDP (p = 0.007, two-tailed Fisher\'s exact test).     ///    c-Fos-irm was expressed solely in epithelial cells and glandular structures.     ///    \"To test this hypothesis in humans in vivo the immunohistochemical expression of c-fos-immunoreactive material (c-fos-irm) was assessed in nasal polyps from eight steroid naive subjects, polyps from eight subjects treated with topical beclomethasone dipropionate (BDP), and normal inferior turbinate nasal mucosa (n = 6). \"    ///    Glucocorticoids appear to modulate expression of c-fos-irm and possibly AP-1 in human airway epithelial cells in vivo.. '), ('6870', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10399965', '21', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To determine the reason for this discrepancy, we analyzed cDNA from HS-SY-3 cells, as well as the original sarcoma tissue by the rapid amplification of cDNA 3\' end assay, and found that the chimaeric cDNA was 240 bp shorter than the previously established SYT/SSX1 cDNA due to truncation of the 3\' side of SSX1.     ///    \"A new human synovial sarcoma cell line, HS-SY-3, with a truncated form of hybrid SYT/SSX1 gene.. \"'), ('6871', 'IR_IGF1R', 't(12;15)  / ', 'IR', 'IGF1R', '21148487', '21', 'breast cancer;breast carcinoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Various IGF1R signaling inhibitors, including the dual specificity IGF1R/insulin receptor (INSR) inhibitor BMS-536924, were then tested for effects on three-dimensional Matrigel cell growth, migration, and tumor formation.     ///    \"Thus, our findings strongly encourage the evaluation of IGF1R/INSR inhibitors to treat EN-driven breast cancers.. \"'), ('6872', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '7486813', '21', 'acute lymphoblastic leukemia;acute promyelocytic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Only one, the PML-RARA, is associated with APL.     ///    They are termed PML-RARA and RARA-PML.     ///    The PML-RARA chimeric protein has two zinc finger-like regions. '), ('6873', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '16101126', '21', 'non Hodgkin lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The transgenic approach described provides direct evidence for the strong transforming potential of NPM-ALK in T-cells and furthermore represents a system for the analysis of the oncogenic events mediated by NPM-ALK in vivo, which might be instrumental in the development of tyrosine kinase inhibitor therapies of potential clinical use..     ///    Mice transgenic for NPM-ALK develop non-Hodgkin lymphomas..     ///    The NPM-ALK chimeric protein is an activated tyrosine kinase that has been shown to be a potent oncogene and presumably plays a causative role in lymphomagenesis. '), ('6874', 'BCL2_IGH', '', 'BCL2', 'IGH', '11532621', '21', 'B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In these 3 cases the molecular studies (PCR) demonstrated clonal rearrangement of the heavy immunoglobulin chain (IgH) and/or bcl2-IgH in agreement with the flow results. '), ('6875', 'RET_PTC1', '', 'RET', 'PTC1', '15456136', '21', 'thyroid carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The overall frequency of RET/PTC rearrangements in PTC was 14% (12 of 85), including 7 RET/PTC1, 2 RET/PTC3, 1 deltaRFP/RET and 2 apparently uncharacterized rearrangements.     ///    \"Neither RET/PTC rearrangements nor BRAF muta-tions were detected in any of 3 follicular thyroid carcinomas, 11 follicular adenomas and 13 nodular goiters. \"    ///    The high prevalence of BRAF mutations and RET/PTC rearrangements in PTCs and the specificity of these alterations to PTC make them potentially important markers for the preoperative tumor diagnosis..     ///    We have analyzed a series of 118 benign and malignant follicular cell-derived thyroid tumors for RET/PTC rearrangements and BRAF gene mutations.     ///    \"Taken together, our observations are consistent with the notion that BRAF mutations appear to be an alternative pathway to oncogenic MAPK activation in PTCs without RET/PTC activation. \"    ///    \"Moreover, there was no overlap between PTC harboring BRAF and RET/PTC mutations, which altogether were present in 75.8% of cases (69 of 91). \"'), ('6876', 'CD8_CD4', 'del(1)(q12-q23) / del(1)(q21.1-q24) / del(1)(q21.1-q23) / del(10) / t(2;4)(p25;p12) / t(2;22)(p14;p13) / ', 'CD8', 'CD4', '22813662', '21', 'psoriasis\r\r', '', '', '', '', '', '', '', '', 'The CD4/CD8 ratio of the father and the son was found to be significantly high. '), ('6877', 'MMP2_MMP24', '', 'MMP2', 'MMP24', '11267666', '21', '', '', '', '', '', '', '', '', '', 'These results strongly suggest that a MT5-MMP/gelatinase A cascade may possibly operate in the process of spawning and/or other events associated with ovulated oocytes or fertilized eggs of the medaka fish.. '), ('6878', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '21243374', '21', 'adenosquamous carcinoma', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Twenty cases of confirmed MEC were tested for CRTC1-MAML2 rearrangement and 5 low-grade MECs, 7 intermediate grade MECs, and 2 cases of HG MEC were translocation-positive..     ///    \"The most recent debate regarding the histologic grading of MECs, centers on the wide range of reported prevalence of cyclic AMP response element-binding protein (CREB)-regulated transcription coactivator (CRTC1-MAML2) rearrangement in high-grade (HG) MECs. \"'), ('6879', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '9285793', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Double immunofluorescence in conjunction with confocal laser-scanning microscopy revealed that the SYT and SYT-SSX nuclear dots do not co-localize with known nuclear structures as e.g.     ///    The SSX2 protein exhibited a diffuse staining pattern whereas both the SYT and SYT-SSX proteins appeared in several nuclear dots.     ///    These antibodies specifically detected both these proteins and the SYT-SSX fusion proteins in transfected COS-1 cell extracts.     ///    The similar nuclear localization patterns of SYT and SYT-SSX suggest that the SYT-SSX fusion proteins are directed to SYT-associated nuclear domains where an abnormal function may be exerted..     ///    \"Nuclear localization of SYT, SSX and the synovial sarcoma-associated SYT-SSX fusion proteins.. \"'), ('6880', 'WT1_EWSR1', '', 'WT1', 'EWSR1', '24832162', '21', 'nephroblastoma', '', '', '', '', '', '', 'KB', '', 'However, focal triphasic elements and glomeruloid bodies were identified on deeper sections, WT1 immunoreactivity was seen with antibodies to both the amino-terminus and carboxy-terminus, and EWSR1-WT1 rearrangement studies were negative, supporting the ultimate diagnosis of WT.     ///    \"In these challenging cases, detection of an EWSR1-WT1 rearrangement and selective WT1 carboxy-terminus immunoreactivity (characteristic of DSRCT) or dual immunoreactivity for the WT1 amino-terminus and carboxy-terminus (characteristic of WT) remain the most discriminating diagnostic tools. \"'), ('6881', 'RET_PTC', '', 'RET', 'PTC', '14996725', '21', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Like the previously reported mutually exclusive relationship between BRAF mutation and other Ras pathway components such as RET/PTC rearrangement, a mutually exclusive relationship also exists between BRAF mutation and RASSF1A methylation in thyroid tumorigenesis.. '), ('6882', 'BCR_ABL1', 't(9;22) / t(9;22)  / ', 'BCR', 'ABL1', '8656667', '21', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The role, if any, of the reciprocal ABL-BCR hybrid gene in CML is unknown.     ///    \"Although its mRNA message is in frame, no ABL-BCR fusion protein has yet been identified in CML patients. \"'), ('6883', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '26484077', '21', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Identification of TEL-AML1 (ETV6-RUNX1) associated DNA and its impact on mRNA and protein output using ChIP, mRNA expression arrays and SILAC..     ///    \"We here describe in detail the experimental procedure, quality controls and contents of the ChIP, mRNA expression and SILAC datasets associated with the study published by Linka and colleagues in the Blood Cancer Journal [1] utilizing a short term induction of TEL-AML1 in an inducible precursor B-cell line model. \"    ///    To identify direct targets of the fusion protein a short-term induction of TEL-AML1 is needed.     ///    \"Direct as well as secondary indirect effects of the TEL-AML1 fusion protein are commonly recorded by using cell lines and patient samples, often bearing the TEL-AML1 fusion protein for decades. \"'), ('6884', 'RET_PTC', '', 'RET', 'PTC', '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..     ///    Taken together these results support the concept that RET/PTC activation plays a central role in the pathogenesis of thyroid papillary carcinomas in both Ukraine and Belarus after the Chernobyl accident..     ///    We analyzed 67 post-Chernobyl pediatric papillary carcinomas arising in 1995-1997 for RET/PTC activation: 28 were from Ukraine and 39 were from Belarus.     ///    \"The study, conducted by a combined immunohistochemistry and RT-PCR approach, demonstrated a high frequency (60.7% of the Ukrainian and 51.3% of the Belarussian cases) of RET/PTC activation. \"'), ('6885', 'DMD_BMD', '', 'DMD', 'BMD', '8281150', '21', 'Duchenne and Becker muscular dystrophy\r\r', 'PCR', '', '', '', '', '', '', '', 'About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions.     ///    To screen for microheterogeneities in this gene region we applied PCR-SSCP analysis to exons 60-79 of twenty-six DMD/BMD patients without detectable deletions. '), ('6886', 'MET_FAS', 't(12;21)  / t(12;21) / ', 'MET', 'FAS', '17673463', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These results indicate that c-MET activation enhances specifically FAS-mediated apoptosis in TEL-AML1 ALL cells and, considering that the c-MET/FAS complex is present only in normal B lymphocytes and in TEL-AML1 leukemias, this implies that it may have an important contribution in cellular homeostasis and in high sensitivity of TEL-AML1 ALL to chemotherapeutic regimens.. '), ('6887', 'TEL_AML1', '', 'TEL', 'AML1', '15926159', '21', 'acute lymphoblastic leukemia;ewing sarcoma;lymphoblastic leukemia;leukemia;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The simultaneous presence of two distinct neoplasms was confirmed by RT-PCR, with EWS/FLI1 type 1 rearrangement in the bone tumor and TEL/AML1 rearrangement in the marrow. '), ('6888', 'TSC2_TSC1', 't(1;19)(q10;p10) / ', 'TSC2', 'TSC1', '22789312', '21', 'pilocytic astrocytoma\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', '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. '), ('6889', 'TCRD_TCR', '', 'TCRD', 'TCR', '15928199', '21', '', 'PCR', '', '', '', '', '', '', '', 'We show that TCR loci rearrange in a highly ordered way (TCRD-TCRG-TCRB-TCRA) and that the initiating Ddelta2-Ddelta3 rearrangement occurs at the most immature CD34+CD38-CD1a- stage. '), ('6890', 'MB1_HLF', 't(17;19)  / ', 'MB1', 'HLF', '26588248', '21', 'leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'E2A-HLF/Mb1.Cre aged mice developed a fatal myeloproliferative-like disorder with low frequency characterized by leukocytosis, anemia, hepatosplenomegaly and organ-infiltration by mature myelocytes. '), ('6891', 'ERK2_ERK1', '', 'ERK2', 'ERK1', '12937606', '21', '', '', '', '', '', '', '', '', '', 'These growth factors, most notably EGF, trigger cell proliferation via signal transduction pathways involving EGF-R, adapter proteins (Grb2, Shc and Sos), Ras, Raf1 and MAP (Erk1/Erk2) kinases, which, after translocation to nuclei, activate transcription factors and cell proliferation. '), ('6892', 'BCLXL_BCL2', 't(8;21)  / ', 'BCLXL', 'BCL2', '16778832', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Significant apoptosis was observed, concomitant with Bcl-2/Bcl-XL downregulation, mitochondrial instability and caspase-3 activation. '), ('6893', 'TF12_HEB', '', 'TF12', 'HEB', '15494495', '21', '', '', '', '', '', '', '', '', '', 'Although E-proteins have been highly conserved in vertebrate evolution, the present results indicate that, at the phylogenetic level of a teleost fish, the TF12/HEB homolog differs from that of mammals in terms of 1) its high level of expression and 2) the presence of isoforms generated by alternative RNA processing..     ///    \"E-box binding transcription factors of the class I basic helix-loop-helix family were cloned from a catfish B cell cDNA library in this study, and homologs of TF12/HEB were identified as the most highly represented E-proteins. \"    ///    \"Evolution of transcriptional control of the IgH locus: characterization, expression, and function of TF12/HEB homologs of the catfish.. \"'), ('6894', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '19451695', '21', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The validated gene signature reliably identified M3 samples in 2 other AML datasets, and the validated genes were substantially enriched in our mouse model of APL, but not in a cell line that inducibly expressed PML-RARA.     ///    \"The resulting fusion protein, PML-RARA, initiates APL, which is a subtype (M3) of acute myeloid leukemia (AML). \"'), ('6895', 'KISS1_GPR54', '', 'KISS1', 'GPR54', '18817822', '21', '', '', '', '', '', '', '', '', '', 'The data available for fish are fragmented, yet indicate that the KiSS1/GPR54 system is functionally conserved in non-mammalian vertebrates and supports the notion that it has a role in pubertal development and reproduction in piscine systems..     ///    The KiSS1/GPR54 system in fish..     ///    \"As in mammals, the fish KiSS1/GPR54 system appears to be partially regulated by gonadal steroids. \"    ///     The KiSS1/GPR54 system has now been identified in non-mammalian vertebrates. '), ('6896', 'RET_PTC', '', 'RET', 'PTC', '16434896', '21', 'papillary adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements presented at younger age and had predominantly typical papillary histology, frequent psammoma bodies, and a high rate of lymph node metastases.     ///    \"It has been recently shown that these tumors commonly have one of three genetic alterations: BRAF point mutations, RET/PTC rearrangements, or RAS point mutations. \"    ///    \"Of 96 unselected cases, 42% were positive for BRAF, 18% for RET/PTC, and 15% for RAS mutations. \"    ///    \"These findings demonstrate that BRAF, RET/PTC, and RAS mutations are associated with distinct microscopic, clinical, and biologic features of thyroid papillary carcinomas.. \"'), ('6897', 'RET_PTC3', '', 'RET', 'PTC3', '15456136', '21', 'thyroid carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The overall frequency of RET/PTC rearrangements in PTC was 14% (12 of 85), including 7 RET/PTC1, 2 RET/PTC3, 1 deltaRFP/RET and 2 apparently uncharacterized rearrangements. '), ('6898', 'CSN3_COP1', 't(3;5) / ', 'CSN3', 'COP1', '15861129', '21', '', '', '', '', '', '', '', '', '', 'These results indicate that MLF1 is a critical regulator of p53 and suggest its involvement in leukemogenesis through a novel CSN3-COP1 pathway.. '), ('6899', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '20508610', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Prognostic value of minimal residual disease by real-time quantitative PCR in acute myeloid leukemia with CBFB-MYH11 rearrangement: the French experience.. '), ('6900', 'ETO_AML1', 't(8;21)  / t(16;21) / ', 'ETO', 'AML1', '16474840', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Dual FRAP studies revealed that CBFbeta colocalized with AML1-ETO within the nucleus, resulting in reduced mobility of CBFbeta.     ///    \"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. \"    ///    The dimerization domain (nervy homology region 2) of ETO is responsible for the reduced mobility of AML1-ETO. '), ('6901', 'SYT_SSX1', '', 'SYT', 'SSX1', '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. '), ('6902', 'RUNX1_ETV6', 't(12;21)  / ', 'RUNX1', 'ETV6', '23151340', '21', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization..     ///    A high resolution 244K array-based Comparative Genomic Hybridization (array-CGH) was used to study eleven ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL) patients. '), ('6903', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '8876234', '21', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The mechanism by which AML1-ETO accomplishes leukemic transformation is unknown.     ///    The upregulation of M-CSF receptor expression by AML1-ETO may contribute to the development of a leukemic state in these patients..     ///    \"however, AML1-ETO interferes with AML1 transactivation of such AML1 targets as the T-cell receptor beta enhancer and the granulocyte-macrophage colony-stimulating factor promoter. \"    ///    Truncation mutants within the ETO portion of AML1-ETO revealed the region of ETO necessary for the cooperativity between AML1 and AML1-ETO lies between amino acids 347 and 540.     ///    \"Herein, we explored the effect of AML1-ETO on regulation of a myeloid-specific AML1 target, the macrophage colony-stimulating factor (M-CSF) receptor promoter. \"    ///    \"We found that AML1-ETO and AML1 work synergistically to transactivate the M-CSF receptor promoter, thus exhibiting a different activity than previously described. \"    ///    \" AML1 is involved in the (8;21) translocation, associated with acute myelogenous leukemia (AML)-type M2, which results in the production of the AML1-ETO fusion protein: the amino-terminal 177 amino acids of AML1 and the carboxyl-terminal 575 amino acids of ETO. \"'), ('6904', 'AE3_AE1', 't(6;11) / t(6;11)  / ', 'AE3', 'AE1', '25188174', '21', 'renal cell carcinoma', '', '', '', '', '', '', '', '', 'The tumor was positive for HMB45, focally for AE1-AE3 and OSCAR. '), ('6905', 'RET_PTC', '', 'RET', 'PTC', '15880523', '21', 'anaplastic thyroid carcinoma', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'IHC analysis of RET/PTC rearrangements revealed no positive staining of RET in any of 8 ATCs, suggesting that these ATCs are not derived from RET/PTC- rearranged PTC.     ///    \"RET/PTC rearrangements and p53 mutation were monitored by immunohistochemical (IHC) staining by anti-RET antibodies and an anti-p53 mAb, respectively. \"'), ('6906', 'RARA_PLZF', 't(11;17)  / ', 'RARA', 'PLZF', '15592671', '21', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'We describe a patient with promyelocytic leukemia zinc finger/retinoic acid receptor alpha (PLZF/RARalpha) APML who was treated with combination chemotherapy after poor response to arsenic trioxide. '), ('6907', 'LGLL1_FLK2', '', 'LGLL1', 'FLK2', '10700466', '21', '', 'PCR', '', '', '', '', '', '', '', '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. '), ('6908', 'RET_PTC', '', 'RET', 'PTC', '25111330', '21', 'thyroid nodule;thyroid carcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'After surgery, 115 nodules were confirmed as conventional papillary thyroid carcinoma and 102 (88.70%) of these nodules harbored either the BRAF(V600E) mutation (76.52%) or RET/PTC rearrangements (12.17%).     ///    \"Point mutations and RET/PTC rearrangements, were evaluated by pyrosequencing and TaqMan real-time PCR, respectively. \"'), ('6909', 'RARA_PML', 't(15;22;17) / t(15;17)(q22;q21) / t(15;22;17)  / ', 'RARA', 'PML', '19190979', '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. '), ('6910', 'GPX6_GPX1', '', 'GPX6', 'GPX1', '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. '), ('6911', 'SSX2_SSX1', 'p11.2;q11.2 / ', 'SSX2', 'SSX1', '22550415', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In recent years, several reports describing direct and indirect interactions of SS18-SSX1/SSX2 oncoproteins have been published. '), ('6912', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '11751994', '21', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These data indicate that NPM/ALK activates STAT3 and that PP2A and lack of protein inhibitor of activated STAT3 may be important in maintaining STAT3 in the activated state in the ALK+ TCL cells.     ///    Here we report that NPM/ALK induces continuous activation of STAT3.     ///    \"Downstream effector molecules triggered by NPM/ALK remain, however, largely unidentified. \"    ///    \"Furthermore, STAT3 was constitutively associated with NPM/ALK in the ALK+ TCL cell lines. \"    ///    Transfection of BaF3 cells with NPM/ALK resulted in tyrosine phosphorylation of STAT3. '), ('6913', 'RET_PTC', '', 'RET', 'PTC', '19208736', '21', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this study, we examined whether PTC without BRAF(T1799A) mutation and without RET/PTC rearrangement named PTC-ga(-) were distinguishable from PTC-ga(+) (with one or the other gene alteration) on the basis of gene expression characteristics.     ///    Molecular characteristics of papillary thyroid carcinomas without BRAF mutation or RET/PTC rearrangement: relationship with clinico-pathological features..     ///    \"In conclusion, we show that PTC without BRAF(T1799A) mutation or RET/PTC rearrangement, mainly corresponding to follicular variants, maintain a thyroid differentiation expression level close to that of normal tissue and should be of better prognosis than PTC with one or the other gene alteration.. \"'), ('6914', 'P50_NFKB1', 't(10;14)  / ', 'P50', '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. '), ('6915', 'RET_PTC', '', 'RET', 'PTC', '11788678', '21', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The general prevalence of RET/PTC rearrangement in thyroid PDC and its impact on patient outcome are unknown.     ///    \"RET/PTC rearrangement, analyzed by RT-PCR and immunohistochemistry using antibodies specific for the tyrosine kinase and juxtamembrane portions of the RET protein, was identified in 8/62 (12.9%) PDCs. \"    ///    \"RET/PTC was more common in cases with histologic evidence indicating coexistence with or possible evolution from a well differentiated papillary carcinoma (5 of 25 tumors, 20%) but did not correlate with other clinicopathologic parameters. \"    ///    The relatively low prevalence of RET activation in PDCs argues against a major role for RET/PTC in the progression from well to poorly differentiated thyroid tumor phenotypes. '), ('6916', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '26666262', '21', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'However, expression of AML1-ETO is not sufficient to induce transformation in vivo.     ///    We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo. '), ('6917', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '22982899', '21', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', ' Endometrial stromal sarcoma (ESS) characterized by YWHAE-FAM22 genetic fusion is histologically higher grade and clinically more aggressive than ESS with JAZF1-SUZ12 or equivalent genetic rearrangements, hence it is clinically important to recognize this subset of ESS.     ///    These studies showed consistent upregulation of cyclin D1 in YWHAE-FAM22 ESS compared with JAZF1-SUZ12 ESS. '), ('6918', 'RET_PTC1', '', 'RET', 'PTC1', '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.     ///    Dose-dependent generation of RET/PTC in human thyroid cells after in vitro exposure to gamma-radiation: a model of carcinogenic chromosomal rearrangement induced by ionizing radiation..     ///    \"Chromosomal rearrangements involving the RET gene, known as RET/PTC, are prevalent in thyroid papillary carcinomas from patients with radiation history. \"    ///    \"In this study, we demonstrate a dose-dependent induction of RET/PTC rearrangements in human thyroid cells after exposure to 0.1-10 Gy gamma-radiation. \"    ///    \"We studied the generation of RET/PTC in HTori-3 immortalized human thyroid cells exposed to a range of doses of gamma-radiation and harvested 2, 5-6, and 9 d later. \"    ///    \"The average rate of RET/PTC induction was 0.1 x 10(-6) after exposure to 0.1 Gy, 1.6 x 10(-6) after 1 Gy, 3.0 x 10(-6) after 5 Gy, and 0.9 x 10(-6) after 10 Gy. \"    ///    RET/PTC1 and RET/PTC3 were detected by RT-PCR followed by Southern blotting and hybridization with internal oligonucleotide probes.     ///    \"No RET/PTC was found in cells harvested 2 and 5-6 d after irradiation, whereas 59 RET/PTC events were detected in cells collected 9 d after exposure. \"'), ('6919', 'RET_PTC', '', 'RET', 'PTC', '15716612', '21', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'To evaluate the expression rate of RET/PTC rearrangement and CK19 in PTCs in a Korean population, we studied 115 papillary thyroid carcinomas in 3 mm-core tissue microarray based immunohistochemical analysis.     ///    RET/PTC and CK19 expression in papillary thyroid carcinoma and its clinicopathologic correlation.. '), ('6920', 'TCL1_ATM', 't(14;14)  / ', 'TCL1', 'ATM', '12966431', '21', 'ataxia telangiectasia\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'In this study, we compared AT clonal cells, representing 88% of the entire T lymphocytes (AT94-1) and expressing TCL1 oncogene (ATM(-) TCL1(+)), cell cycle progression to T lymphocytes of AT patients without TCL1 expression (ATM(-) TCL1(-)) by analysing their spontaneous apoptosis rate, spontaneous telomerase activity and telomere instability.     ///    \"We show that in ATM(-) TCL1(+) lymphocytes, apoptosis rate and cell cycle progression are restored back to a rate comparable with that observed in normal lymphocytes while telomere dysfunction is maintained.. \"'), ('6921', 'BCL2_IGH', '', 'BCL2', 'IGH', '22762029', '21', 'lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In addition, differences were noted among these results if molecular analysis was performed using well-known rearrangements (i.e., bcl-1/IgH and bcl-2/IgH) or patient specific oligonucleotides. '), ('6922', 'ETO_AML1', 't(16;21) / ', 'ETO', 'AML1', '14703694', '21', '', '', '', '', '', '', '', '', '', 'Our results suggest that ETO homologues can interact with each other as well as with AML1-ETO, although it is unclear as to what extent these interactions occur in vivo..     ///    \"Similarly, the chimeric oncoprotein AML1-ETO interacted with both MTGR1 and MTG16. \"'), ('6923', 'ACTB_MLF1', 't(3;5) / ', 'ACTB', 'MLF1', '11021751', '21', 'refractory anemia with excess of blasts', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'A significantly higher level of MLF1 expression (ratio of MLF1/beta-actin mRNA >0.4) was readily detected in seven of 65 patients with de novo AML, three of 12 with post-MDS AML and seven of 44 with MDS, but not in any patients with ALL (n = 18). '), ('6924', 'RET_PTC', '', 'RET', 'PTC', '23414134', '21', 'thyroid carcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The results of this study allow us to conclude that low expression of MLH1 is associated with BRAF V600E mutations, RET/PTC rearrangements and transitions (IDH1 and NRAS) in patients with thyroid carcinoma.     ///    \"In a series of 96 thyroid tumours whose mutational profiles of BRAF, IDH1 and NRAS mutations and RET/PTC were previously determined, we investigated MLH1 and MGMT expression and methylation status by qPCR and methylation-specific PCR after bisulphite treatment, respectively. \"'), ('6925', 'BCL2_IGH', 't(14;18) / ', 'BCL2', 'IGH', '15160916', '21', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Therefore, this study had the following aims: to determine the presence of bcl-2/IgH rearrangement in peripheral blood of early and advanced stage FL patients after treatment and to correlate it with their clinical situation at the same moment.     ///    \"These semi-nested PCRs for bcl-2/IgH rearrangement were able to detect one positive cell among 10,000 normal cells. \"'), ('6926', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '20724820', '21', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In a recently published study we demonstrate that PML/RARA is amenable for degradation by autophagy and that ATRA- and ATO-induced PML/RARA degradation is autophagy-dependent. '), ('6927', 'RARA_PML', '', 'RARA', 'PML', '8752731', '21', 'acute lymphoblastic leukemia;acute promyelocytic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Owing to the development of the polymerase chain reaction (PCR) MRD can be detected at the 10(-5) level by amplifying the leukemia-specific DNA rearrangement (BCR/ABL, PML/RARA etc.) or clone-specific DNA sequences (IgH chain CDR-III etc.). '), ('6928', 'IGH_BCL2', '', 'IGH', 'BCL2', '23737092', '21', 'mantle cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'M-rel was assessed using nested polymerase chain reaction (PCR) and real-time quantitative PCR using the Bcl-1/IGH, Bcl-2/IGH or the immunoglobulin heavy chain rearrangement. '), ('6929', 'NPM_ALK', 't(2;5)  / t(2;5) / ', 'NPM', 'ALK', '11801565', '21', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The ALK domain of NPM-ALK contains kinase activity, which is responsible for the autophosphorylation of tyrosine residues of the oncogenic protein and phosphorylation of SH2-protein substrates.     ///    Model of inhibition of the NPM-ALK kinase activity by herbimycin A..     ///    Our results show that herbimycin A interferes with NPM-ALK and Akt pathways in SUDHL-1 cells.     ///    \"NPM-ALK, Akt, and pAkt were down-regulated after 24 h of incubation with herbimycin A. \"'), ('6930', 'RET_PTC1', '', 'RET', 'PTC1', '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. '), ('6931', 'MLL_ENL', 't(11;19)  / ', 'MLL', 'ENL', '16479159', '21', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Thus, although aberrant maintenance of Hoxa gene expression may play an important role in MLL-ENL induced leukemia, the contribution of this pathway to immortalization is critically dependent on the cytokine environment of the immortalized myeloid cells..     ///    The mechanism of hematopoietic progenitor cell immortalization by MLL-ENL..     ///    Immortalized myeloid cell lines can be generated by expression of MLL-ENL in murine hematopoietic progenitors.     ///    \"By establishing myeloid cell lines with conditional expression of MLL-ENL, we recently demonstrated that MLL-ENL is necessary to maintain immortalization and sustain the expression of a characteristic pattern of Hox genes. \"    ///    \"Expression of Hoxa genes is reduced in cells differentiating as a result of MLL-ENL loss, but is maintained in G-CSF treated cells. \"    ///    The cell lines can be induced to undergo terminal differentiation by inhibition of MLL-ENL expression or by treatment with G-CSF. '), ('6932', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '11949845', '21', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The bcl-2/IgH rearrangement constitutes good target for polymerase chain reaction (PCR) detection that allows to find out one tumor cell in 100,000 normal cells.     ///    \"Thus, the results show that PCR detection of the bcl-2/IgH rearrangement is a very useful method in evaluating the BM infiltration by lymphoma cells especially in the situation of MRD. \"    ///    No bcl-2/IgH positive cells were detected in 4 patients (80%) at any point after AT.     ///    Two PCR bcl-2/IgH positive patients with FL were treated with rituximab (anti-CD20 antibody) and had no PCR-detectable lymphoma cells in BM after the therapy. '), ('6933', 'helicase_DEAD', 't(11;14)(q23;q32) / ', 'helicase', 'DEAD', '10360675', '21', 'adenocarcinoma\r\r', '', '', '', '', '', '', '', '', 'The rck/p54 protein belongs to the DEAD box protein/RNA helicase family, which has a variety of functions such as translation initiation, pre-mRNA splicing and ribosome assembly. '), ('6934', 'TEL_FGFR3', 't(4;14)  / p16.3;q32.3 / t(4;14) / ', 'TEL', 'FGFR3', '16091734', '21', 'T cell lymphoma;B cell lymphoma;hematopoietic malignancy;multiple myeloma;lymphoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'PKC412 inhibited kinase activation and proliferation of hematopoietic Ba/F3 cells transformed by FGFR3 TDII or a TEL-FGFR3 fusion.     ///    \"Furthermore, treatment with PKC412 resulted in a statistically significant prolongation of survival in murine bone marrow transplant models of FGFR3 TDII-induced pre-B cell lymphoma, or a peripheral T-cell lymphoma associated TEL-FGFR3 fusion-induced myeloproliferative disease. \"'), ('6935', 'RET_PTC3', '', 'RET', 'PTC3', '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. '), ('6936', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '12201571', '21', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In addition to emphasizing the usefulness of genetic study in diagnostic pathology, the clinical implication of SYT/SSX subtypes and other additional chromosomal changes were also discussed by reviewing literature.. '), ('6937', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '17110082', '20', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our results show that NPM-ALK mimics activated T-cell receptor signalling by inducing pathways associated with the activation of NFAT/AP-1 transcription factors that bind to promoter elements found in a broad array of cytokine genes..     ///    \"Specifically, NPM-ALK activates transcription from the TRE promoter element, an AP-1 binding region, an activity dependent on both Ras and Shc activity. \"    ///    \"This activity is dependent on NPM-ALK forming complexes with proteins that bind to autophosphorylated tyrosine residues at positions 156, 567 and 664, associated with binding to IRS-1, Shc and PLCgamma, respectively. \"    ///    We show that NPM-ALK induces Ras activation and phosphorylation of the ERK MAP Kinase consistent with activation of the Ras-MAP Kinase pathway.     ///    \"The NPM-ALK tyrosine kinase mimics TCR signalling pathways, inducing NFAT and AP-1 by RAS-dependent mechanisms.. \"'), ('6938', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16803958', '20', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here, we present the 3D solution structure of the human ETO TAFH (eTAFH) domain implicated in AML1-ETO:E protein interactions and report an unexpected fold similarity to paired amphipathic helix domains from the transcriptional corepressor Sin3.     ///    Our results address uncharacterized aspects of the corepression mechanism of ETO and suggest that eTAFH may serve to recruit ETO (or AML1-ETO) to DNA-bound transcription factors.     ///    AML1-ETO was recently shown to inhibit E protein transactivation by physically displacing WT coactivator proteins in an interaction mediated by ETO.     ///     Up to 15% of acute myeloid leukemias (AMLs) are characterized by the abnormal expression of the eight-twenty-one (ETO) transcriptional corepressor within an AML1-ETO fusion protein.     ///    The acute myeloid leukemia fusion protein AML1-ETO targets E proteins via a paired amphipathic helix-like TBP-associated factor homology domain.. '), ('6939', 'DUX4_CIC', 't(4;19)(q35;q13) / ', 'DUX4', 'CIC', '16717057', '20', 'facioscapulohumeral muscular dystrophy', '', '', '', '', '', '', '', '', 'CIC-DUX4 exhibits a transforming potential for NIH 3T3 fibroblasts, and as a consequence of fusion with a C-terminal fragment of DUX4, CIC acquires an enhanced transcriptional activity, suggesting that expression of its downstream targets might be deregulated.     ///    \"Indeed, CIC-DUX4 directly binds the ERM promoter by recognizing a novel target sequence and significantly up-regulates its expression. \"    ///    \"Gene expression analysis identified the ETS family genes, ERM/ETV5 and ETV1, as potential targets for the gene product of CIC-DUX4. \"'), ('6940', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '18089725', '20', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, inhibition of key NPM-ALK signaling mediators, including phospholipase C-gamma, signal transducers and activators of transcription 3, extracellular signal-regulated kinases, and Akt by PF-2341066 were observed at concentrations or dose levels, which correlated with inhibition of NPM-ALK phosphorylation and function.     ///    \"PF-2341066 also potently inhibited NPM-ALK phosphorylation in Karpas299 or SU-DHL-1 ALCL cells (mean IC(50) value, 24 nmol/L). \"    ///    \"Collectively, these data illustrate the potential clinical utility of inhibitors of NPM-ALK in treatment of patients with ALK-positive ALCL.. \"    ///    A strong correlation was observed between antitumor response and inhibition of NPM-ALK phosphorylation and induction of apoptosis in tumor tissue.     ///    \"bioavailable, small-molecule inhibitor of the catalytic activity of c-Met kinase and the NPM-ALK fusion protein. \"'), ('6941', 'WT1_EWS', 't(11;22)(p13;q12) / ', 'WT1', 'EWS', '9354795', '20', 'ewing sarcoma', '', '', '', '', '', '', '', '', 'By analogy with other EWS fusion products, the EWS-WT1 chimaera may encode a transcriptional activator whose target genes overlap with those repressed by WT1 (ref. '), ('6942', 'RET_PTC3', '', 'RET', 'PTC3', '12457448', '20', 'thyroid carcinoma;papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The prevalence of RET/PTC activation in PTC is high and RET/PTC3 is the only type of activation identified in Hong Kong Chinese and is an important genetic event underlying the development of PTC in the population..     ///    \"The presence of RET/PTC1, RET/PTC2 and RET/PTC3 activation was analyzed by RT-PCR in twenty PTC from adult patients (age range 24-63 years), one PTC from a 12-year-old boy and anaplastic carcinomas in two adult patients. \"    ///    RET/PTC3 was also identified in PTC from the child and one of the two patients with anaplastic thyroid carcinoma.     ///    Seventeen PTC from adult patients (85%t) were positive for RET/PTC3.     ///    RET/PTC3 was the only activation of RET proto-oncogene identified in the samples. '), ('6943', 'ETV6_FLT3', 't(12;13)(p13;q12) / ', 'ETV6', 'FLT3', '16761019', '20', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Both ETV6/FLT3 and reciprocal FLT3/ETV6 transcripts were detected in the patient mRNA by reverse transcriptase-polymerase chain reaction.     ///    \"At the protein level, however, only ETV6/FLT3 products were expressed. \"'), ('6944', 'RAF1_ESRP1', '', 'RAF1', 'ESRP1', '20526349', '20', 'prostate cancer;gastric cancer;lung cancer;melanoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Here we used paired-end transcriptome sequencing to screen ETS rearrangement-negative prostate cancers for targetable gene fusions and identified the SLC45A3-BRAF (solute carrier family 45, member 3-v-raf murine sarcoma viral oncogene homolog B1) and ESRP1-RAF1 (epithelial splicing regulatory protein-1-v-raf-1 murine leukemia viral oncogene homolog-1) gene fusions.     ///    \"Here we used paired-end transcriptome sequencing to screen ETS rearrangement-negative prostate cancers for targetable gene fusions and identified the SLC45A3-BRAF (solute carrier family 45, member 3-v-raf murine sarcoma viral oncogene homolog B1) and ESRP1-RAF1 (epithelial splicing regulatory protein-1-v-raf-1 murine leukemia viral oncogene homolog-1) gene fusions.\"    ///    Expression of SLC45A3-BRAF or ESRP1-RAF1 in prostate cells induced a neoplastic phenotype that was sensitive to RAF and mitogen-activated protein kinase kinase (MAP2K1) inhibitors. '), ('6945', 'PAX3_FKHR', 't(2;13)(q35;q14) / ', 'PAX3', 'FKHR', '7624119', '20', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These data demonstrate that PAX3 and PAX3-FKHR contain structurally distinct transcriptional activation domains and suggest that a consequent difference in function is important for oncogenesis..     ///    Recently we demonstrated that PAX3-FKHR is a more potent transcriptional activator than PAX3 despite impaired binding to canonical PAX3 binding sites.     ///    \"To compare the PAX3 and putative PAX3-FKHR transactivation domains, we fused C-terminal test fragments to the heterologous GAL4 DNA-binding domain and tested activation of a reporter gene co-transfected into four cell types. \"    ///    \"Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains.. \"    ///    \"ARMS cells express a PAX3-FKHR fusion protein containing the complete N-terminal, DNA-binding domain of PAX3 and the C-terminus of FKHR. \"'), ('6946', 'TAL1_SIL', 't(1;14)(p32;q11) / t(1;14) / t(1;14)  / ', 'TAL1', 'SIL', '1402666', '20', 'T ALL;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In these cells, tal-1 is expressed via SIL-tal-1 fused transcripts. '), ('6947', 'PBX1_E2A', 't(1;19)  / t(1;19) / ', 'PBX1', 'E2A', '7910944', '20', 'precursor B cell leukemia', '', '', '', '', '', 'Transcription_Factor', '', '', 'This finding suggests that E2A-Pbx1 transforms cells by constitutively activating transcription of genes regulated by Pbx1 or by other members of the Pbx protein family..     ///    \"E2A-Pbx1 strongly activates transcription in vivo through this motif, while Pbx1 does not. \"'), ('6948', 'EML4_ALK', '', 'EML4', 'ALK', '21036415', '20', 'adenocarcinoma\r\r', 'FISH;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One new EML4-ALK fusion variant was identified.     ///    \"A recent report suggesting an association between Ad-SRCC and EML4-ALK fusion prompted us to undertake a histological, immunohistochemical, and molecular analysis of 10 cases of primary Ad-SRCC identified out of 699 lung adenocarcinomas (1.4%). \"'), ('6949', 'TFE3_PRCC', 'p11.2;q21.2 / ', 'TFE3', 'PRCC', '8872474', '20', 'renal cell carcinoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Notably the generation of the chimaeric PRCC-TFE3 gene appears to be accompanied by complete loss of normal TFE3 transcripts. '), ('6950', 'POU5F1_EWS', 't(6;22)(p21;q12) / t(6;22)  / ', 'POU5F1', 'EWS', '15729702', '20', 'sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'It is suggested that EWS-POU5F1 may act as an oncogenic transcription factor and that its expression may contribute to undifferentiated and immature phenotypes of BST..     ///    The EWSR1-POU5F1 chimera consists of exons 1-6 of EWSR1 and exons 2-5 and a part of exon 1 of POU5F1. '), ('6951', 'PAX3_FKHR', 't(2;13)  / ', 'PAX3', 'FKHR', '8643596', '20', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In transient cotransfection assays with human expression constructs, we have demonstrated the increased ability of PAX3-FKHR to activate transcription of a reporter gene located downstream of multimerized e5, PRS-9, or CD19 DNA-binding sites in three cell lines.     ///    \"We have shown, however, that the structurally distinct transactivation domains of PAX3 and PAX3-FKHR differ 10- to 100-fold in their susceptibility to inhibition, thus elucidating a mechanism by which PAX3 gains enhanced function during oncogenesis.. \"    ///    \"In this context, full-length PAX3-FKHR was also much more potent than PAX3. \"    ///    \"By deletion analysis, we mapped a bipartite cis-acting inhibitory domain to the same subregions within the DNA-binding domains of both PAX3 and PAX3-FKHR. \"    ///    \"For example, PAX3-FKHR was 100-fold more potent than PAX3 as an activator binding to e5 sites in NIH 3T3 cells. \"    ///    \"Here we have tested the hypothesis that PAX3-FKHR gains function relative to PAX3 as a consequence of switching PAX3 and FKHR transactivation domains, which were previously shown to have similar potency but distinct structural motifs. \"    ///    \"To compare transactivation potency independent of PAX3-specific DNA binding, we tested GAL4 fusions of full-length PAX3 and PAX3-FKHR or their respective C-terminal transactivation domains on a reporter with GAL4 DNA-binding sites. \"'), ('6952', 'BCR_ABL1', 't(9;22)  / t(9;22;16) / ', 'BCR', 'ABL1', '15721642', '20', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The b3a2 transcript of BCR-ABL1 was detected both at diagnosis and 7 months after therapy.     ///    All chromosomes have participated in these variants and the BCR-ABL1 hybrid gene is always present. '), ('6953', 'P300_CBP', 't(8;21)  / ', 'P300', 'CBP', '16540647', '20', '', '', '', '', '', '', '', '', '', 'In particular, GATA-1 acetylation by its transcriptional coactivator, p300/CBP, a critical regulatory step in programming erythroid development, is efficiently blocked by AML1-ETO. '), ('6954', 'SET_NUP214', '', 'SET', 'NUP214', '22095169', '20', '', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series.. '), ('6955', 'TEL_ARNT', 't(1;12)(q21;p13) / ', 'TEL', 'ARNT', '16547490', '20', 'leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Interestingly, stable expression of the TEL-ARNT in 32Dcl3 subclones resulted in impaired HIF1-mediated transcriptional response and inhibition of differentiation enhancement in hypoxic conditions.     ///    \"In low oxygen tension conditions, the HIF1alpha/TEL-ARNT complex does not activate transcription but exerts a dominant-negative effect on normal HIF1 activity. \"    ///    Functional studies show that TEL-ARNT interacts with HIF1alpha and the complex binds to consensus hypoxia response element.     ///    Functional analyses of the TEL-ARNT fusion protein underscores a role for oxygen tension in hematopoietic cellular differentiation.. '), ('6956', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '24228088', '20', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This is caused by de-repression of the transcription of E-cadherin by SYT-SSX1 and SYT-SSX2, which dissociate Snail or Slug, respectively, from the E-cadherin promoter. '), ('6957', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '8972188', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In this study, we used deletional and site-directed mutagenesis to identify portions of Pbx1 necessary for oncogenic and transcriptional activities of E2a-Pbx1.     ///    \"Thus, the HCM is a necessary and sufficient contribution of Pbx1 for oncogenesis induced by E2a-Pbx1 and accounts for its homeodomain-independent transforming properties. \"'), ('6958', 'RFT_PTC', '', 'RFT', 'PTC', '15368067', '20', 'medullary carcinoma', '', '', '', '', '', '', '', '', 'Immunohistochemical technique is proved to be a useful tool to detect RFT/PTC activation in thyroid tumors. '), ('6959', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '12691918', '20', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Stat5-dependent transcriptional activity was inhibited by transfection of NPM/ALK-transformed cells with a dominant-negative Jak2 expression construct or treatment with AG490.     ///    We investigated the role of Jak2 in the context of NPM/ALK-mediated oncogenesis.     ///    NPM/ALK-transformed cells were treated with the Jak2 inhibitor AG490 or transfected with wild-type or dominant-negative Jak2 expression constructs to measure 3[H]-thymidine incorporation.     ///    \"Also, NPM/ALK was present in immunoprecipitates of Jak2. \"    ///    Jak2 was found to be constitutively tyrosine phosphorylated in ALCL cells and in NPM/ALK-transformed hematopoietic cells.     ///    Constitutive activation of Jak2 contributes to proliferation and resistance to apoptosis in NPM/ALK-transformed cells..     ///    \"Constitutive activation of Jak2 constitutes a pro-proliferative, anti-apoptotic signaling pathway in NPM/ALK-transformed hematopoietic cells.. \"    ///    Inhibition of Jak2 led to a reduction of NPM/ALK-mediated proliferation and induced apoptosis.     ///    NPM/ALK exerts its transforming potential via activation of multiple signaling pathways promoting growth factor independence and protection from apoptosis. '), ('6960', 'RET_PTC', '', 'RET', 'PTC', '25487739', '20', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Both cytological and histological specimens were investigated by direct sequencing and reverse transcription-polymerase chain reaction (RT-PCR) for BRAF and RAS mutations and for PAX8/PPARG and RET/PTC rearrangements, respectively. '), ('6961', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '12732181', '20', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Therefore, p14(ARF) is a direct transcriptional target of AML1-ETO..     ///    Chromatin immunoprecipitation assays demonstrated that AML1-ETO bound to the p14(ARF) promoter.     ///    We found that AML1-ETO repressed the promoter of p14(ARF) tumor suppressor in transient transfection assays and reduced endogenous levels of p14(ARF) expression in multiple cell types. '), ('6962', 'TIF2_MOZ', 'inv (8) (p11q13) / ', 'TIF2', 'MOZ', '17697320', '20', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'MOZ-TIF2 repression of nuclear receptor-mediated transcription requires multiple domains in MOZ and in the CID domain of TIF2..     ///    \"The co-expression of TIF2, but not CBP, with MOZ-TIF2 partially restored the inhibition of the reporter systems. \"    ///    MOZ-TIF2 inhibited nuclear receptor-mediated gene response by aberrant recruitment of CBP and both the MOZ and TIF2 portions are required for this inhibition..     ///    Stable expression of MOZ-TIF2 inhibited retinoic acid (RA) inducible endogenous CD11b and C/EBPbeta gene response.     ///    The suppression of the reporter systems was released with either a CID domain deletion or with mutations of leucine-rich repeats in the TIF2 portion of MOZ-TIF2.     ///    Transient expression of MOZ-TIF2 dramatically decreased both basal and estradiol inducible reporter gene activity in an estrogen receptor element (ERE) driven luciferase reporter system and decreased androgen-inducible reporter gene activity in an androgen receptor element (ARE) luciferase reporter system.     ///    \"In addition, analysis of protein interactions demonstrated MOZ-TIF2 interaction with the C-terminus of CBP through both the MOZ and TIF2 portions of the fusion protein. \"    ///    A series of deletions from the N-terminus of the MOZ-TIF2 fusion protein demonstrated that the MOZ portion is essential for nuclear localization of the fusion protein.     ///    Deletions in the MOZ portion of the MOZ-TIF2 fusion protein reduced the suppression in the ER reporter system.     ///    Characterization of the molecular structure of the MOZ-TIF2 fusion protein suggested that the fusion protein would effect on nuclear receptor signaling. '), ('6963', 'RAR_PLZF', 't(11;17)  / ', 'RAR', 'PLZF', '9765306', '20', '', '', '', '', '', '', '', '', '', 'We and others have previously implicated the SMRT corepressor in the actions of the PLZF transcription factor and in the function of its oncogenic derivative, PLZF-retinoic acid receptor (RARalpha), in promyelocytic leukemia. '), ('6964', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '10824918', '20', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These tumors were classified by reverse transcription-polymerase chain reaction to SYT-SSX1 and SYT-SSX2 types.     ///    It has been suggested that patients who have SS bearing SYT-SSX1 fusion have worse prognosis than those bearing SYT-SSX2 fusion.     ///    The SYT-SSX1 type fusion was associated with high Ki-67 expression (P = .011) and high mitotic rate (P = .070). '), ('6965', 'HLF_DBP', 't(17;19)  / ', 'HLF', 'DBP', '10073576', '20', 'hepatocellular carcinoma', '', '', 'Oncogene', '', '', '', '', '', 'Finally, these studies reaffirm the potential role of dimeric transcription factor complexes in mediating interactions with specific promoter elements, which, in the case of the Factor VIII promoter, results in dramatically enhanced binding of HLF-DBP heterodimers to two cis-acting sequences.     ///    At least some of the synergistic activation of the Factor VIII promoter seen with HLF and DBP cotransfection can be attributed to increased binding of HLF-DBP heterodimers to two Factor VIII promoter sites.     ///    Enhanced binding of HLF/DBP heterodimers represents one mechanism of PAR protein transactivation of the factor VIII and factor IX genes.. '), ('6966', 'TEC_EWS', 't(9;22)(q22;q12) / t(9;17)(q22;q11) / ', 'TEC', 'EWS', '10537274', '20', 'chondrosarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'This transcript is structurally and functionally very similar to the EWS-TEC fusions. '), ('6967', 'LCA_CD45', '', 'LCA', 'CD45', '27045402', '20', 'non Hodgkin Lymphoma', 'PCR', '', '', '', '', '', '', '', 'In addition, the positive and negative expressions of LCA/CD45 marker were 76% (76/100) and 26% (26/100), respectively. '), ('6968', 'FGFR1_BCR', 't(8;22)(p11;q11) / ', 'FGFR1', 'BCR', '23328683', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This translocation results in an in-frame fusion of FGFR1 on 8p11 and BCR on 22q11, and causes constitutive activation of the tyrosine kinase of the BCR/FGFR1 chimera protein. '), ('6969', 'RET_PTC', '', 'RET', 'PTC', '15785245', '20', 'multiple endocrine neoplasia', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemical analyses were used to identify the RET gene and RET/PTC rearrangements.     ///    No RET/PTC-3 rearrangement was detected in any specimen.     ///    \"PTCs among Koreans rarely showed RET/PTC rearrangements, but commonly showed increased RET gene expression. \"    ///    There are several conflicting reports on the influences of RET expression and RET/PTC rearrangements on the clinical outcome of thyroid cancers.     ///    \"Therefore, the wild-type RET gene expression and RET/PTC-1, RET/PTC-2, RET/PTC-3 rearrangements were examined in thyroid carcinomas and other thyroid diseases. \"'), ('6970', 'PAX3_FKHR', 't(2;13)(q35;q14) / ', 'PAX3', 'FKHR', '11735247', '20', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In the present study the potential regulation of the IGF-I receptor (IGF-I-R) gene by PAX3-FKHR at the transcriptional level was investigated.     ///    Transcriptional regulation of IGF-I receptor gene expression by the PAX3-FKHR oncoprotein..     ///    \"PAX3-FKHR was able to transactivate the IGF-I-R promoter in sarcoma-derived cell lines, whereas PAX3 exhibited a reduced potency in comparison to the fusion protein. \"    ///    \"Furthermore, transfection of the chimera induced a significant increase in the endogenous levels of IGF-I-R protein, suggesting that the IGF-I-R gene is a physiologically-relevant molecular target for the PAX3-FKHR oncogene.. \"'), ('6971', 'RET_PTC2', '', 'RET', 'PTC2', '12457448', '20', 'thyroid carcinoma;papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The presence of RET/PTC1, RET/PTC2 and RET/PTC3 activation was analyzed by RT-PCR in twenty PTC from adult patients (age range 24-63 years), one PTC from a 12-year-old boy and anaplastic carcinomas in two adult patients. '), ('6972', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '20015877', '20', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These findings reveal the convergence of STAT3 and ERK1/2 signaling pathways activated by NPM-ALK in mediating the regulation of C/EBPbeta expression, a transcription factor central to NPM-ALK transformation..     ///    \"Recently, we reported the abnormal expression of the transcription factor CCAAT/enhancer binding protein-beta (C/EBPbeta) in ALK-positive anaplastic large cell lymphomas, and demonstrated its dependence on NPM-ALK activity. \"'), ('6973', 'PREP1_MEIS1', 't(1;19)  / ', 'PREP1', 'MEIS1', '10471746', '20', 'leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A conserved motif N-terminal to the DNA-binding domains of myogenic bHLH transcription factors mediates cooperative DNA binding with pbx-Meis1/Prep1..     ///    \"Here, we report that Pbx-Meis1/Prep1 binds DNA cooperatively with heterodimers of E2a and MyoD, myogenin, Mrf-4 or Myf-5. \"    ///    \"As with Hox proteins, a highly conserved tryptophan motif N-terminal to the DNA-binding domains of each myogenic bHLH family protein is required for cooperative DNA binding with Pbx-Meis1/Prep1. \"'), ('6974', 'E47_E12', '', 'E47', 'E12', '24135088', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematopoietic malignancy\r\r', '', '', '', '', '', '', '', '', 'However, translocation junctions at the transcription factor 3 (TCF3)/E2A immunoglobulin enhancer binding factors E12/E47 (E2A) locus clustered within, or in proximity to, transposable element sequences. '), ('6975', 'MECT1_MAML2', 't(11;19)(q21;p13) / ', 'MECT1', 'MAML2', '15961999', '20', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'MECT1-MAML2 was found to bind to CREB, recruit p300/CBP into the CREB complex through a binding domain on MAML2, and constitutively activate CREB-dependent transcription.     ///    The transforming activity of MECT1-MAML2 was markedly reduced by blocking CREB DNA binding.     ///    Transforming activity of MECT1-MAML2 fusion oncoprotein is mediated by constitutive CREB activation..     ///    \"Here, we demonstrate that the MECT1-MAML2 fusion protein induces expression of multiple genes known to be CREB transcriptional targets. \"'), ('6976', 'TEL_AML1', '', 'TEL', 'AML1', '15470492', '20', '', 'PCR', '', '', '', '', '', '', '', 'The presence of TCRB rearrangements showed a significant relation with age (highest frequency of 46% between 5 and 10 years of age) and the presence of TEL-AML1 transcripts, and was associated with relatively high frequencies of IGK-Kde, TCRG, and Vdelta2-Jalpha rearrangements. '), ('6977', 'AE3_AE1', 't(12;14) / ', 'AE3', 'AE1', '19346081', '20', 'pleomorphic adenoma\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemistry showed a dual epithelial population with ductal (positivity for AE1/AE3, CK19, CK7 antibodies) and basal-cell (positivity for p63, CK14, CK5,6 antibodies) differentiation in oncocytic areas. ');
INSERT INTO `ChimerPub_dump` VALUES ('6978', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '19808868', '20', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Both agents directly target PML/RARA-mediated transcriptional repression and protein stability, inducing to various extent promyelocyte differentiation and clinical remission of APL patients.     ///    \"The RA-As association, which synergizes for PML/RARA degradation but not for differentiation, rapidly clears leukemia initiating cells (LIC), resulting in APL eradication in murine APL models, but also in several APL clinical trials. \"    ///    Therapy-induced PML/RARA proteolysis and acute promyelocytic leukemia cure..     ///    \"Cyclic AMP triggered PML/RARA phosphorylation also enhances RA-induced APL regression, PML/RARA degradation, and LIC clearance, raising new options for therapy-resistant patients. \"    ///    \"Although differentiation has a major role in debulking of the tumor, PML/RARA degradation seems to be the primary basis for APL eradication by the RA-As association. \"    ///    PML/RARA expression in the mouse is sufficient to initiate APL. '), ('6979', 'P300_CBP', 't(11;19)(q21;p13) / ', 'P300', 'CBP', '15961999', '20', 'mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'MECT1-MAML2 was found to bind to CREB, recruit p300/CBP into the CREB complex through a binding domain on MAML2, and constitutively activate CREB-dependent transcription. '), ('6980', 'SYT_SSX1', 'p11;q11 / ', 'SYT', 'SSX1', '19936258', '20', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Epigenetic features of human mesenchymal stem cells determine their permissiveness for induction of relevant transcriptional changes by SYT-SSX1.. '), ('6981', 'IGF2_H19', 'p11;q11 / ', 'IGF2', 'H19', '19936258', '20', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Methylation status analysis of sequences at the H19/IGF2 imprinted locus indicated that distinct epigenetic features characterize hMSC populations and condition the transcriptional effects of SYT-SSX expression. '), ('6982', 'P300_CREBBP', 't(8;21)  / ', 'P300', 'CREBBP', '15333839', '20', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'This study shows that AML1-ETO, as well as ETO, inhibits transcriptional activation by E proteins through stable interactions that preclude recruitment of p300/CREB-binding protein (CBP) coactivators. '), ('6983', 'RET_PTC', '', 'RET', 'PTC', '19147753', '20', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements were analyzed by reverse transcription-PCR.     ///    \"In addition, 5 of 54 (9.3%) recurrent PTC patients had both a BRAF mutation and a RET/PTC rearrangement. \"    ///    The RET/PTC rearrangements were detected in 9 of 54 (16.7%) patients.     ///    \"RET/PTC rearrangements, although commonly associated with primary PTCs in younger patients, are uncommonly found in recurrent PTC patients. \"    ///    PTC usually possesses BRAF mutation or RET/PTC rearrangements.     ///    High rate of BRAF and RET/PTC dual mutations associated with recurrent papillary thyroid carcinoma.. '), ('6984', 'TAL1_SIL', '', 'TAL1', 'SIL', '18021563', '20', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'SIL-TAL1 had been found in 4 of 7 of T-lineage leukemias. '), ('6985', 'NUP98_NSD1', 't(5;11) / ', 'NUP98', 'NSD1', '17589499', '20', 'lung cancer;multiple myeloma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Mechanistically, NUP98-NSD1 binds genomic elements adjacent to HoxA7 and HoxA9, maintains histone H3 Lys 36 (H3K36) methylation and histone acetylation, and prevents EZH2-mediated transcriptional repression of the Hox-A locus during differentiation.     ///    \"We demonstrate that NUP98-NSD1 induces AML in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes. \"    ///    \"Here, we present the first characterization of the transforming properties and molecular mechanisms of NUP98-NSD1. \"    ///    We propose that NUP98-NSD1 prevents EZH2-mediated repression of Hox-A locus genes by colocalizing H3K36 methylation and histone acetylation at regulatory DNA elements.     ///    \"Deletion of the NUP98 FG-repeat domain, or mutations in NSD1 that inactivate the H3K36 methyltransferase activity or that prevent binding of NUP98-NSD1 to the Hox-A locus precluded both Hox-A gene activation and myeloid progenitor immortalization. \"    ///    NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis.. '), ('6986', 'MEIS1_HOXA7', 't(1;19)  / ', 'MEIS1', 'HOXA7', '9405651', '20', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Likewise, in murine myeloid leukemia, transcriptional coactivation of Meis1 with HoxA7/A9 suggests that Meis1-HoxA7/9 heterodimers may evoke aberrant gene transcription. '), ('6987', 'RET_PTC1', '', 'RET', 'PTC1', '15170542', '20', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We performed reverse transcription-polymerase chain reaction (RT-PCR) for RET/PTC1, RET/PTC2, and RET/PTC3 rearrangements and immunohistochemical staining for the RET gene.     ///    \"RET/PTC rearrangement by RT-PCR was positive in only 2 (9.1%) of the 22 patients, and RET/PTC1 and RET/PTC3 were positive in 1 patient each (4.5%). \"'), ('6988', 'RUNX1_ETO', 't(1;21)(p32;q22) / ', 'RUNX1', 'ETO', '25798834', '20', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'GSEA analysis confirmed similar altered gene expression patterns in the truncated RUNX1 and RUNX1/ETO models, with both models showing alterations in genes involved in self-renewal and leukemogenesis, including homeobox genes, primitive erythroid genes and leukemogenic transcription factors.     ///    These effects are similar to but milder than those induced by the RUNX1/ETO fusion protein. '), ('6989', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '20455087', '20', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Expression of PML/RARA, a potent transcriptional repressor, induces APL in mice.     ///    \"Both retinoic acid (RA) and arsenic trioxide directly target PML/RARA-mediated transcriptional repression and protein stability, inducing rapid differentiation of the promyelocytes and clinical remission in most APL patients. \"    ///    Eradication of acute promyelocytic leukemia-initiating cells by PML/RARA-targeting..     ///    \"Collectively, these results demonstrate that LIC clearance, which mirrors PML/RARA degradation, is the primary basis for APL cure by the RA/arsenic trioxide association, rather than differentiation. \"    ///    \"The RA/arsenic trioxide association, which dramatically synergizes for PML/RARA degradation but not for differentiation, rapidly clears LIC in a proteasome-dependent manner, resulting in APL eradication in murine models and patients. \"'), ('6990', 'TRAIL_DR5', 't(14;18) / t(14;18)  / ', 'TRAIL', 'DR5', '14614322', '20', 'follicular lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'p53 gene mutations that disable the transcriptional response to DNA damaging drugs, including expression of the TRAIL-DR5 receptor, and 2.     ///    \"In chemosensitive FL cells, we found that DNA damaging drugs promote apoptosis through p53-dependent upregulation of the TRAIL-DR5 receptor, resulting in activation of caspase-8 and downstream executioner caspases, thereby evading bcl-2 mediated suppression of apoptosis. \"'), ('6991', 'RARA_PML', 't(15;17)  / t(11;17) / ', 'RARA', 'PML', '9070655', '20', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The generated PML-RAR alpha fusion interferes with wild type RAR alpha-mediated transcription and disrupts subnuclear compartments, known as PML bodies. '), ('6992', 'CALM_AF10', 't(10;11)(p13;q14) / ', 'CALM', 'AF10', '22829078', '20', 'acute lymphoblastic leukemia;chronic myeloid leukemia;prostate cancer;myeloid leukemia;lymphoblastic leukemia\r\r', '', '', '', '', '', '', '', '', 'The transcriptional activation capacity of FHL2 was reduced by CALM, but not by CALM/AF10, which suggests that regulation of FHL2 by CALM might be disturbed in CALM/AF10-positive leukemia. '), ('6993', 'RET_PTC2', '', 'RET', 'PTC2', '15170542', '20', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We performed reverse transcription-polymerase chain reaction (RT-PCR) for RET/PTC1, RET/PTC2, and RET/PTC3 rearrangements and immunohistochemical staining for the RET gene. '), ('6994', 'SYT_SSX1', 'p11.2;q11.2 / ', 'SYT', 'SSX1', '24228088', '20', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'This is caused by de-repression of the transcription of E-cadherin by SYT-SSX1 and SYT-SSX2, which dissociate Snail or Slug, respectively, from the E-cadherin promoter.     ///    \"On the other hand, the SYT-SSX2 fusion has a weaker de-repression effect on the E-cadherin promoter than does SYT-SSX1, so it is difficult for SYT-SSX2-expressing tumors to achieve sufficient capacity for epithelial differentiation to form glandular structures. \"    ///    \"However, a subset of SS with SYT-SSX1 loses E-cadherin expression despite adequate de-repression because of mutations in E-cadherin, resulting in monophasic histology. \"    ///    \"The ratio of the expression levels of SYT-SSX1 and Snail is also associated with E-cadherin expression: the lower the SYT-SSX1/Snail ratio, the lower the level of E-cadherin expression, and vice versa, thus affecting tumor histology. \"'), ('6995', 'RET_PTC', '', 'RET', 'PTC', '12457448', '20', 'thyroid carcinoma;papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Seventeen PTC from adult patients (85%t) were positive for RET/PTC3.     ///    \"The presence of RET/PTC1, RET/PTC2 and RET/PTC3 activation was analyzed by RT-PCR in twenty PTC from adult patients (age range 24-63 years), one PTC from a 12-year-old boy and anaplastic carcinomas in two adult patients. \"    ///    RET/PTC3 was also identified in PTC from the child and one of the two patients with anaplastic thyroid carcinoma.     ///    The prevalence of RET/PTC activation in PTC is high and RET/PTC3 is the only type of activation identified in Hong Kong Chinese and is an important genetic event underlying the development of PTC in the population.. '), ('6996', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '8552663', '20', 'lymphoid leukemia', '', '', '', '', '', 'Transcription_Factor', '', '', 'however, both Pbx1 and E2A-Pbx1 exhibit tight binding to specific DNA motifs in conjunction with certain other homeodomain proteins, and E2A-Pbx1 activates transcription through these motifs, whereas Pbx1 does not. '), ('6997', 'RET_PTC3', '', 'RET', 'PTC3', '15170542', '20', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We performed reverse transcription-polymerase chain reaction (RT-PCR) for RET/PTC1, RET/PTC2, and RET/PTC3 rearrangements and immunohistochemical staining for the RET gene.     ///    \"RET/PTC rearrangement by RT-PCR was positive in only 2 (9.1%) of the 22 patients, and RET/PTC1 and RET/PTC3 were positive in 1 patient each (4.5%). \"'), ('6998', 'TEL_AML1', '', 'TEL', 'AML1', '9577176', '20', 'lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To demonstrate that a molecular screening by reverse transcriptase polymerase chain reaction (RT-PCR) of TEL/AML1, E2A/PBX1 and BCR/ABL genes in pediatric acute lymphoblastic leukaemia is a rapid method that allows one to exceed the percentage of adult patients with the BCR/ABL rearrangement.     ///    \"On the basis of these data it would be useful to achieve a molecular screening of TEL/AML1, E2A/PBX1 and BCR/ABL genes in pediatric acute lymphoblastic leukaemia for allowing a molecular classification in a great percentage of patients that exceed the BCR/ABL positivity in adults.. \"    ///    \"TEL/AML1 in two cases (16.6%), E2A/PBX1 in one case (8.3%) and BCR/ABL in another one (8.3%). \"    ///    \"Bone marrow aspiration was collected between april and december 1996, RNA was isolated and cDNA was subjected to PCR amplification for TEL/AML1, E2A/PBX1 and BCR/ABL genes. \"'), ('6999', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '25487739', '20', '', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Both cytological and histological specimens were investigated by direct sequencing and reverse transcription-polymerase chain reaction (RT-PCR) for BRAF and RAS mutations and for PAX8/PPARG and RET/PTC rearrangements, respectively. '), ('7000', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '25106763', '20', 'smooth muscle tumor', '', '', '', '', '', '', '', '', 'A minority of leiomyomas were also found to display deletions within the COL4A5-COL4A6 genes, leading to upregulation of the adjacent gene IRS4.     ///    \"The evidence points to at least 4 molecular subclasses: leiomyomas with MED12 mutation, FH inactivation, HMGA2 overexpression, and COL4A6-COL4A5 deletion. \"'), ('7001', 'PHD_LAP', 't(10;11)(p12;q23) / t(10;11)(p12;q14) / ', 'PHD', 'LAP', '11756182', '20', 'hematologic malignancy\r\r', '', '', '', '', '', '', '', '', ' The AF10 gene encodes a putative transcription factor containing an N-terminal LAP/PHD zinc finger motif, a functional nuclear localization signal, an AT-hook domain, and a leucine zipper toward the C-terminus. '), ('7002', 'RET_PTC', '', 'RET', 'PTC', '24798740', '20', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangement was determined by reverse transcription (RT)-PCR-sequencing of tumor cDNA.     ///    \"Concomitant BRAF(V600E) and KRAS, or BRAF(V600E) and RET/PTC-1 mutations were found in two CPTC, and six CPTC and one tall-cell variant, respectively. \"    ///    \"RET/PTC-1 was detected in nine CPTC, one tall-cell variant, and two FVPTC. \"    ///    \"However, although concomitant mutations of RET/PTC, RAS, or BRAF have been reported recently, their significance for tumor progression and survival remains unclear. \"    ///    \"Concomitant RAS, RET/PTC, or BRAF mutations in advanced stage of papillary thyroid carcinoma.. \"'), ('7003', 'RARA_PML', 't(15;17)(q22;q21) / t(11;17)(q23;q21) / t(5;17)(q35;q12-21) / t(11;17)(q13;q21) / ', 'RARA', 'PML', '26471811', '20', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We report on an APL patient with iso(17q) as the sole cytogenetic aberration and a cryptic PML-RARA transcript, who was treated with ATRA and ATO after failure of chemotherapy and achieved complete remission.     ///    Acute promyelocytic leukemia with isochromosome 17q and cryptic PML-RARA successfully treated with all-trans retinoic acid and arsenic trioxide.. '), ('7004', 'BCR_ABL1', 't(9;22)  / ', 'BCR', 'ABL1', '15145216', '20', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The expression profile also included genes encoding transcription factors, kinases, and signal transduction molecules, as well as genes regulating cell growth, differentiation, apoptosis, and cell adhesion, features previously suggested to be affected by BCR/ABL1.     ///    \"In an effort to better understand the transcriptional program activated by BCR/ABL1, we used cDNA microarrays to evaluate the relative expression of approximately 6450 human genes in U937 myelomonocytic cells expressing P210 BCR/ABL1 via a tetracycline-inducible promoter. \"    ///    \"In contrast, relatively few genes are known to be regulated by BCR/ABL1 at the level of transcription. \"    ///    The resulting fusion of the BCR and ABL1 loci produces the constitutively active BCR/ABL1 tyrosine kinase.     ///    We confirmed the previously reported up-regulation of the PIM1 and JUN oncogenes by BCR/ABL1.     ///    These observations shed novel insight into the mechanism of BCR/ABL1 action and provide a range of targets for further investigation..     ///    \"In addition, we identified 59 more genes up-regulated by BCR/ABL1. \"    ///    An additional seven BCR/ABL1-regulated genes were found to be IFN-responsive in U937 cells.     ///    \"A wide range of signal transduction molecules are activated by BCR/ABL1, including MYC, PI-3 kinase, and different STAT molecules. \"    ///    Identification of genes differentially regulated by the P210 BCR/ABL1 fusion oncogene using cDNA microarrays.. '), ('7005', 'IG_BCL2', 't(14;18)  / ', 'IG', 'BCL2', '9573034', '20', 'lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Whereas the juxtaposition of Bcl-2 with the Ig heavy chain locus causes a transcriptional activation, 70% of the lymphomas also produce Bcl-2-Ig fusion RNAs with Ig 3\' ends. '), ('7006', 'H2AX_BRCA1', 't(1;21) / t(1;21)  / ', 'H2AX', 'BRCA1', '19200961', '20', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Immunostaining for SCP3, MLH1, and gamma-H2AX/BRCA1 was performed on biopsy to identify synapses, recombination, and transcriptional inactivation, respectively. '), ('7007', 'SYT_SSX2', 'p11.2;q11.2 / ', 'SYT', 'SSX2', '10824918', '20', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These tumors were classified by reverse transcription-polymerase chain reaction to SYT-SSX1 and SYT-SSX2 types.     ///    It has been suggested that patients who have SS bearing SYT-SSX1 fusion have worse prognosis than those bearing SYT-SSX2 fusion. '), ('7008', 'USP6_CDH11', '', 'USP6', 'CDH11', '15509545', '19', 'aneurysmal bone cyst', '', '', '', '', '', '', '', '', 'Herein, we report CDH11 and/or USP6 rearrangements in 36 of 52 primary ABCs (69%), of which 10 had CDH11-USP6 fusion, 23 had variant USP6 rearrangements without CDH11 rearrangement, and three had variant CDH11 rearrangements without USP6 rearrangement. '), ('7009', 'KIF5B_RET', '', 'KIF5B', 'RET', '25436805', '19', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Comprehensive genomic profiling performed by means of a clinical grade cancer gene panel next-generation sequencing assay demonstrated a KIF5B-RET fusion in three; and fluorescence in-situ hybridization documented a RET rearrangement in two.    ///    Comprehensive genomic profiling performed by means of a clinical grade cancer gene panel next-generation sequencing assay demonstrated a KIF5B-RET fusion in three. '), ('7010', 'ROS1_CD74', '', 'ROS1', 'CD74', '23724914', '19', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'Resistance to crizotinib developed in a patient with metastatic lung adenocarcinoma harboring a CD74-ROS1 rearrangement who had initially shown a dramatic response to treatment.     ///    Acquired resistance to crizotinib from a mutation in CD74-ROS1.. '), ('7011', 'BCL6_BCL2', '', 'BCL6', 'BCL2', '9209377', '19', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'This study suggests that BCL6 rearrangement is primarily associated with large cell lymphoma, and that BCL2(-)BCL6(+) NHL could potentially be curable with modern combination chemotherapy.. '), ('7012', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '18767247', '19', 'leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'However, in recent years, different lymphoma/leukemia-associated rearrangements, such as BCR/ABL, IGH/BCL2, ETV6/RUNX1 and MLL duplications, have been detected in healthy individuals. '), ('7013', 'BCR_ABL1', '', 'BCR', 'ABL1', '22887688', '19', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A multiplex long-range PCR-based assay was developed to allow fast and reliable amplification of patient-specific BCR-ABL1 fusion sequences from genomic DNA.     ///    Genomic BCR-ABL1 breakpoints in pediatric chronic myeloid leukemia.. '), ('7014', 'ATF1_EWSR1', '', 'ATF1', 'EWSR1', '23796270', '19', 'ewing sarcoma;clear cell sarcoma;melanoma;sarcoma\r\r', 'PCR;ISH', '', '', '', '', 'Transcription_Factor', 'KB', '', 'Reverse-transcription polymerase chain reaction (PCR) and sequencing of the PCR product revealed an EWSR1-activating transcription factor 1 type 1 fusion transcript in both cases. '), ('7015', 'ETO_AML1', '', 'ETO', 'AML1', '10846434', '19', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' Along a 5-year period in a single institution, specific molecular markers were prospectively looked for in consecutive patients with acute leukemia, by means of polymerase chain reaction (PCR): In patients with acute lymphoblastic leukemia (ALL), the BCR/ABL and TEL-AML1 fusion transcripts as well as clonotypic immunoglobulin gene rearrangements were investigated, whereas in patients with acute myelogenous leukemia (AML) the PML-RAR alpha, AML1-ETO and CBF beta-MYH11 fusion proteins were assessed.     ///    \"Specific molecular markers were identified in 15/75 patients: Four with ALL (three with clonotypic IgG rearrangements and one with BCR/ABL) and 11 with AML (nine with the PML/RAR alpha fusion protein--M3 AML-, and two with the AML1/ETO fusion protein--M2 AML-). \"'), ('7016', 'MYST3_CREBBP', '', 'MYST3', 'CREBBP', '25548695', '19', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;breast cancer;disseminate intravascular coagulation\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'MYST3/CREBBP Rearranged Acute Myeloid Leukemia after Adjuvant Chemotherapy for Breast Cancer..     ///    \"The MYST3/CREBBP AML tends to develop within 2 years of adjuvant chemotherapy, especially for breast cancer, without preceding myelodysplasia. \"    ///    AML with t (8;16) is a specific translocation leading to formation of a fusion protein (MYST3/CREBBP). '), ('7017', 'TEL_AML1', '', 'TEL', 'AML1', '11274424', '19', 'neural tube defect', '', '', '', '', '', '', '', '', 'We now report associations of MTHFR polymorphisms in three subgroups of pediatric leukemias: infant lymphoblastic or myeloblastic leukemias with MLL rearrangements and childhood lymphoblastic leukemias with either TEL-AML1 fusions or hyperdiploid karyotypes. '), ('7018', 'RET_PTC', '', 'RET', 'PTC', '10196666', '19', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The RET/PTC rearrangements were found in PTC from children contaminated by the Chernobyl fall-out as well as in tumours from patients with a history of therapeutic external radiation, with a frequency of 60-84%.     ///    The other forms of RET/PTC were observed in only a minority of the post-Chernobyl PTC (< 20%).     ///    \"In two of the post-therapeutic radiation PTC, RET/PTC1 and PTC3 were simultaneously present. \"    ///    \"These ret chimeric genes which are due to intra- or inter-chromosomal translocations, were called RET/PTC1 to PTC5. \"'), ('7019', 'MYC_BCL6', '', 'MYC', 'BCL6', '26573234', '19', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In summary, diffuse large B-cell lymphoma patients with either MYC/BCL6 rearrangements or MYC/BCL6 co-expression did not always have poorer prognosis.     ///    \"Diffuse large B-cell lymphoma patients with MYC/BCL6 co-expression did have significantly poorer survival, however, MYC/BCL6 co-expression had no effect on prognosis in the absence of MYC/BCL2 co-expression, and had no additive impact in MYC+/BCL2+ cases. \"'), ('7020', 'DP_ABAD', '', 'DP', 'ABAD', '25206370', '19', '', '', '', '', '', '', '', '', '', 'Based on peptide aptamers, the present study inserted ABAD-DP into the disulfide bond of human thioredoxin (TRX) using molecular cloning technique to construct a fusion gene that can express the TRX1-ABAD-DP-TRX2 aptamer.     ///    These findings confirmed the possibility of constructing TRX-based peptide aptamer using ABAD-DP. '), ('7021', 'MYC_BCL2', '', 'MYC', 'BCL2', '23348205', '19', 'primary effusion lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Double-hit (DH) lymphomas with MYC and either BCL2 (DH-BCL2/MYC) or BCL6 (DH-BCL6/MYC) rearrangements are considered very aggressive, many of which are now included in the category B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) (DLBCL/BL).     ///    \"However, data describing the DH cases are largely based on DH-BCL2/MYC cases. \"    ///    \"Unlike DH-BCL2/MYC lymphomas, however, they are more likely to be CD10(-) but IRF4/MUM-1(+) (P=0.03) and, more like BL, only infrequently express BCL2 (P<0.001), and are cytogenetically less complex (P<0.04).. \"'), ('7022', 'BCR_ABL1', '', 'BCR', 'ABL1', '15721638', '19', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We report on a 72-year-old male patient with a BCR/ABL1 rearrangement positive acute lymphoblastic leukemia (common ALL, or c-ALL. '), ('7023', 'MYC_BCL6', '', 'MYC', 'BCL6', '23348205', '19', 'primary effusion lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Double-hit (DH) lymphomas with MYC and either BCL2 (DH-BCL2/MYC) or BCL6 (DH-BCL6/MYC) rearrangements are considered very aggressive, many of which are now included in the category B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) (DLBCL/BL).     ///    \"Thus, DH-BCL6/MYC lymphomas are aggressive, frequently involve extranodal sites, and are often DLBCL/BL with a germinal center phenotype. \"    ///    \"To better characterize DH-BCL6/MYC cases, the clinical, morphologic, phenotypic, and cytogenetic features of 6 cases from University of Pittsburgh Medical Center and 17 cases from the Mitelman database were reviewed. \"    ///    \"The Mitelman DH-BCL6/MYC cases included 13 aggressive B-cell lymphomas (diagnosed as DLBCL-5, BL-5, BL-like lymphomas-2, and primary effusion lymphoma-1) and 4 other lymphoid/plasmacytic neoplasms. \"'), ('7024', 'BCR_ABL1', '', 'BCR', 'ABL1', '24319172', '19', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetics provide reliable risk stratification for treatment: high hyperdiploidy and ETV6-RUNX1 are good risk, whereas BCR-ABL1, MLL rearrangements, and hypodiploidy are poor risk. '), ('7025', 'PTEN_PI3K', '', 'PTEN', 'PI3K', '26166433', '19', '', '', '', '', 'Tumor_suppressor', '', '', '', '', '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. '), ('7026', 'TEL_AML1', '', 'TEL', 'AML1', '18665825', '19', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Common fusion transcripts in childhood acute lymphoblastic leukemia (ALL) are TEL-AML1, E2A-PBX, MLL-AF4, and BCR-ABL (p190) and in acute nonlymphoblastic leukemia (ANLL) are AML-ETO, PML-RARA, and CBFB-MYH11.     ///    \"In ALL samples, we found TEL-AML1 = 16/63 (25.4%), E2A-PBX = 3/63 (4.8%), MLL-AF4 = 1/63 (1.6%), and BCR-ABL = 1/63 (1.6%). \"    ///    \"Multiplex RT-PCR panel A (ALL) included primers for TEL-AML1, E2A-PBX, MLL-AF4, and BCR-ABL (p190) whereas panel B (ANLL) composed of primers for AML-ETO, PML-RARA, and CBFB-MYH11. \"'), ('7027', 'TEL_AML1', '', 'TEL', 'AML1', '10641030', '19', 'acute lymphoblastic leukemia;acute promyelocytic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'TEL-AML1 fusion and hyperdiploidy >50 chromosomes are associated with a good prognosis in childhood acute lymphoblastic leukemia, whereas BCR-ABL fusion and MLL rearrangements are associated with a poor prognosis. '), ('7028', 'RARA_PML', '', 'RARA', 'PML', '18665825', '19', 'acute myeloid leukemia', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Common fusion transcripts in childhood acute lymphoblastic leukemia (ALL) are TEL-AML1, E2A-PBX, MLL-AF4, and BCR-ABL (p190) and in acute nonlymphoblastic leukemia (ANLL) are AML-ETO, PML-RARA, and CBFB-MYH11.     ///    \"Multiplex RT-PCR panel A (ALL) included primers for TEL-AML1, E2A-PBX, MLL-AF4, and BCR-ABL (p190) whereas panel B (ANLL) composed of primers for AML-ETO, PML-RARA, and CBFB-MYH11. \"'), ('7029', 'DHFR_CDA', '', 'DHFR', 'CDA', '10543614', '19', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'Expression of a novel double-mutant dihydrofolate reductase-cytidine deaminase fusion gene confers resistance to both methotrexate and cytosine arabinoside.. '), ('7030', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24319172', '19', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Cytogenetics provide reliable risk stratification for treatment: high hyperdiploidy and ETV6-RUNX1 are good risk, whereas BCR-ABL1, MLL rearrangements, and hypodiploidy are poor risk. '), ('7031', 'MLL_ENL', '', 'MLL', 'ENL', '20072157', '19', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Our work shows for the first time that high MN1 levels are important for the growth of leukemic cells, and that increased MN1 expression can synergize with MLL-ENL and probably other transforming fusion genes in leukemia induction through a distinct gene expression program that is able to expand the leukemia-initiating cell population..     ///    \"Indeed, co-expression of MN1 with MLL-ENL enhanced transformation in vivo, and resulted in a significantly reduced latency for induction of an aggressive acute leukemia when compared with MN1 or MLL-ENL alone. \"'), ('7032', 'SIL_SCL', '', 'SIL', 'SCL', '18187418', '19', '', 'PCR', '', '', '', '', '', '', '', 'Translocations involving LMO2, TAL1, Ttg-1, and Hox11, as well as a recurrent interstitial deletion at 1p32 involving SIL/SCL, are cited examples of illegitimate V(D)J recombination. '), ('7033', 'TLR4_MD2', '', 'TLR4', 'MD2', '15718493', '19', '', '', '', '', '', '', '', '', '', 'We demonstrated previously that an early form of oxidized LDL, minimally modified LDL (mmLDL), triggers cytoskeletal rearrangements in macrophages via CD14 and Toll-like receptor 4 (TLR4)/MD-2. '), ('7034', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23675566', '19', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The most known fusions are ETV6-RUNX1 or BCR-ABL1 in B-cell progenitor (BCP)-ALL, and rearrangements of MLL in pediatric ALL and AML. '), ('7035', 'EML4_ALK', '', 'EML4', 'ALK', '26045865', '19', 'non small cell lung cancer;lung cancer;adenocarc\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' EML4-ALK rearrangement is detected in 2% to 7% of lung adenocarcinomas, these tumors are sensitive to crizotinib. '), ('7036', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '20378752', '19', 'acute lymphoid leukemia', '', '', '', '', 'Receptor', '', '', '', 'This difference was mainly attributable to an extremely high incidence of relapse (71% +/- 19%) in non-high-risk patients with P2RY8-CRLF2 rearrangement.     ///    Presence of the P2RY8-CRLF2 rearrangement is associated with a poor prognosis in non-high-risk precursor B-cell acute lymphoblastic leukemia in children treated according to the ALL-BFM 2000 protocol.. '), ('7037', 'RAR_PML', '', 'RAR', 'PML', '23532460', '19', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', '', ' Promyelocytic leukemia (PML) is a cell-growth suppressor, and PML-retinoic acid receptor ? (PML-RAR?) is known as a fusion gene of acute promyelocytic leukemia (APL). '), ('7038', 'SSX1_SS18', '', 'SSX1', 'SS18', '24846856', '19', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'Among the samples of ARMS, 50% had rearrangements of PAX3/7-FOXO1, 60% of ES samples were EWS-FLI1 positive and 90% of SS samples were positive for SS18-SSX1/2. '), ('7039', 'RET_PTC', '', 'RET', 'PTC', '20101222', '19', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'DNA breaks at fragile sites generate oncogenic RET/PTC rearrangements in human thyroid cells..     ///    \"Moreover, exposure of human thyroid cells to these chemicals results in the formation of cancer-specific RET/PTC rearrangements. \"    ///    \"In this study, we provide structural and biochemical evidence that the RET, CCDC6 and NCOA4 genes participating in two major types of RET/PTC rearrangements, are located in common fragile sites FRA10C and FRA10G, and undergo DNA breakage after exposure to fragile site-inducing chemicals. \"'), ('7040', 'TNS3_DLC1', '', 'TNS3', 'DLC1', '26166433', '19', '', '', '', '', '', '', '', '', '', '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. '), ('7041', 'MYC_IGH', '', 'MYC', 'IGH', '9178899', '19', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The IgH/c-myc translocus showed different V(h)DJ(H) rearrangement in almost all tumors without any alterations of the distance between c-myc and the IgH intron enhancer. '), ('7042', 'BCR_ABL1', '', 'BCR', 'ABL1', '23675566', '19', 'leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The most known fusions are ETV6-RUNX1 or BCR-ABL1 in B-cell progenitor (BCP)-ALL, and rearrangements of MLL in pediatric ALL and AML.     ///    \"IKZF1 deletions were first identified by SNP arrays in ALL patients, and later identified with a high prevalence in BCR-ABL1(+) patients. \"'), ('7043', 'MYC_IG', '', 'MYC', 'IG', '20348878', '19', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'These results may be very useful in the diagnosis and stratification of MYC-IG rearranged high-grade B-cell lymphomas..     ///    \"This study aimed to assess the impact of karyotypic complexity, in correlation with comprehensive immunophenotypic analyses on the diagnosis and clinical outcomes of 34 cases of MYC-IG rearranged lymphomas that included Burkitt lymphoma (twenty-two cases), diffuse large B-cell lymphoma (three cases), unclassifiable B-cell lymphoma with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma (six cases), and plasmablastic lymphoma (three cases). \"'), ('7044', 'LPA_ATX', '', 'LPA', 'ATX', '25376707', '19', '', '', '', '', '', '', '', '', '', 'In conclusion, ATX/LPA stimulates the migration of hMSCs through LPAR1/3-dependent E-cadherin reduction and cytoskeletal rearrangement via PKC/GSK3?/?-catenin and PKC/Rho GTPase pathways.. '), ('7045', 'E1B_CAT', '', 'E1B', 'CAT', '2139895', '19', '', '', '', '', '', '', '', '', '', 'When the hexamer (AAGTGA)4-8 was inserted upstream of several reporter genes (such as p55cat, pdlE1A-CAT, and pE1B-CAT) which were inefficiently stimulated, the CAT activities of these fusion genes were efficiently stimulated by the E1B-19K protein. '), ('7046', 'RAR_PL', '', 'RAR', 'PL', '23627671', '19', '', '', '', '', '', '', '', '', '', 'In acute promyelocytic leukaemia (APL) patients with the long (L)-type promyelocytic leukaemia-retinoic acid receptor ? fusion gene (PML-RARA), three alternative splicing isoforms can be detected: E5(+)E6(+), E5(-)E6(+), and E5(-)E6(-). '), ('7047', 'CD8_CD4', 't(14;14) / t(7;14) / ', 'CD8', 'CD4', '9407948', '19', 'prolymphocytic leukemia;T cell leukemia', '', '', '', '', '', '', '', '', 'These rearrangements disregulate a gene, TCL1, located at the 14q32.1 region, that we show is physiologically expressed in CD4/CD8 double-negative thymocyte cells, but not in more differentiated CD4+ and CD8+ subpopulations. '), ('7048', 'RUNX1_LPXN', 't(11;21)(q12;q22) / ', 'RUNX1', 'LPXN', '19760607', '19', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This translocation generated four RUNX1/LPXN and one LPXN/RUNX1 chimeric transcripts.     ///    \"Unlike RL and RLs, the LPXN/RUNX1 fusion protein LR was found to localize in the cytoplasm. \"    ///    \"Taken together, our data indicated that the RUNX1/LPXN and LPXN/RUNX1 fusion proteins may play important roles in leukemogenesis and that deregulation of cell adhesion pathways may be pathogenetically important in AML. \"    ///    \"Two representative RUNX1/LPXN fusion proteins, RL and RLs, were both found to localize in the nucleus and could bring the CBFB protein into the nucleus like the wild-type RUNX1. \"'), ('7049', 'TEL_AML1', '', 'TEL', 'AML1', '19081626', '19', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'Cluster analysis of genomic ETV6-RUNX1 (TEL-AML1) fusion sites in childhood acute lymphoblastic leukemia.. '), ('7050', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '18665825', '19', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Common fusion transcripts in childhood acute lymphoblastic leukemia (ALL) are TEL-AML1, E2A-PBX, MLL-AF4, and BCR-ABL (p190) and in acute nonlymphoblastic leukemia (ANLL) are AML-ETO, PML-RARA, and CBFB-MYH11.     ///    \"Multiplex RT-PCR panel A (ALL) included primers for TEL-AML1, E2A-PBX, MLL-AF4, and BCR-ABL (p190) whereas panel B (ANLL) composed of primers for AML-ETO, PML-RARA, and CBFB-MYH11. \"'), ('7051', 'SYT_SSX', '', 'SYT', 'SSX', '15747098', '19', 'synovial sarcoma', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In conclusion, we have developed a fast, accurate, and simple method for the detection of 2 major types of SYT-SSX rearrangement by using LightCycler RT-PCR and melting curve analysis..     ///    Detection of SYT-SSX rearrangements in synovial sarcomas by real-time one-step RT-PCR.. '), ('7052', 'FOP_FGFR1', 't(6;8)(q27;p11) / t(8;13)  / ', 'FOP', 'FGFR1', '9949182', '19', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', '', '', 'The predicted chimeric FOP-FGFR1 protein contains the FOP N-terminus leucine-rich region fused to the catalytic domain of FGFR1. '), ('7053', 'MYH11_CBF', '', 'MYH11', 'CBF', '10846434', '19', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' Along a 5-year period in a single institution, specific molecular markers were prospectively looked for in consecutive patients with acute leukemia, by means of polymerase chain reaction (PCR): In patients with acute lymphoblastic leukemia (ALL), the BCR/ABL and TEL-AML1 fusion transcripts as well as clonotypic immunoglobulin gene rearrangements were investigated, whereas in patients with acute myelogenous leukemia (AML) the PML-RAR alpha, AML1-ETO and CBF beta-MYH11 fusion proteins were assessed. '), ('7054', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '26001971', '19', 'colorectal cancer;colorectal carcinoma;lung cancer;colon cancer\r\r', 'PCR', 'Kinase', '', '', '', '', 'KB', 'Seq', 'One of these rearrangements is a TPM3-NTRK1 fusion already observed in colon cancer, while the second one is a TPR-NTRK1 fusion never described in this type of cancer. '), ('7055', 'TPR_NTRK1', '', 'TPR', 'NTRK1', '26001971', '19', 'colorectal cancer;colorectal carcinoma;lung cancer;colon cancer\r\r', 'PCR', 'Kinase', '', '', '', '', 'KB', '', 'One of these rearrangements is a TPM3-NTRK1 fusion already observed in colon cancer, while the second one is a TPR-NTRK1 fusion never described in this type of cancer. '), ('7056', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19396168', '19', 'prostate cancer;adenocarcinoma;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We find that prostate cancer specimens containing the TMPRSS2-ERG rearrangement are significantly enriched for loss of the tumor suppressor PTEN. '), ('7057', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '26847175', '19', 'myoepithelioma', '', '', '', '', '', '', '', 'Seq', 'NKX2-2, a homeodomain transcription factor involved in neuroendocrine/glial differentiation and a downstream target of EWSR1-FLI1, has been reported as an immunohistochemical marker for Ewing sarcoma.     ///    \"NKX2-2 was positive in 37/40 (93%) Ewing sarcomas, including all atypical Ewing sarcomas and cases with known EWSR1-FLI1 or EWSR1-ERG fusion. \"'), ('7058', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '15156181', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This translocation generates an AML1-ETO fusion protein.     ///    \"In this review, we will discuss structural aspects of the fusion protein and the accumulated knowledge from in vitro analyses on AML1-ETO functions, and outline putative mechanisms of its leukemogenic potential.. \"    ///    \"Despite numerous studies on the function of AML1-ETO, the precise mechanism by which the fusion protein is involved in leukemia development is still not fully understood. \"'), ('7059', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '9737682', '18', '', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'These results show that some patients in remission of APL continue to express PML-RARA even in long-term remission, when they can be considered clinically \'cured\' of their disease..     ///    We have developed a \'hot-start\' RT-PCR method for the amplification of PML-RARA with increased sensitivity at the level of two leukaemic cells in 10(6) cells. '), ('7060', 'GAS5_BCL6', 't(1;3)(q25;q27) / ', 'GAS5', 'BCL6', '18406879', '18', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'As the result of chromosomal translocation, the GAS5-BCL6 chimeric transcripts were expressed, in which the 5\'-terminal oligopyrimidine (5\'TOP) sequence of GAS5 was fused to the whole coding sequence of BCL6. '), ('7061', 'FLI1_EWS', '', 'FLI1', 'EWS', '20308669', '18', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The type 1 EWS-FLI1 transcript is created as a result of fusion between exons 7 of EWS and 6 of FLI1, and retrospective studies have reported that type 1 tumors are associated with an improved outcome. '), ('7062', 'RARA_PML', 't(15;17) / t(15;17)  / ', 'RARA', 'PML', '11929790', '18', 'acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'However, leukemogenesis by PML-RARA required additional genetic alterations.     ///    Recurring chromosomal abnormalities in leukemia in PML-RARA transgenic mice parallel human acute promyelocytic leukemia..     ///    \"In previous studies, we demonstrated that expression of a human PML-RARA complementary DNA in murine granulocyte precursor cells initiated the development of leukemia. \"'), ('7063', 'ZNF198_FGFR1', 't(8;13)(p11;q12) / ', 'ZNF198', 'FGFR1', '15448205', '18', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'A small-molecule tyrosine kinase inhibitor, PKC412 (N-benzoyl-staurosporine) effectively inhibited ZNF198-FGFR1 tyrosine kinase activity and activation of downstream effector pathways, and inhibited proliferation of ZNF198-FGFR1 transformed Ba/F3 cells.     ///    We characterized the transforming activity of ZNF198-FGFR1 in hematopoietic cells in vitro and in vivo.     ///    Expression of ZNF198-FGFR1 in primary murine hematopoietic cells caused a myeloproliferative syndrome in mice that recapitulated the human MPD phenotype.     ///    We hypothesized that small-molecule inhibitors of the ZNF198-FGFR1 fusion would have therapeutic efficacy. '), ('7064', 'PHF1_MEAF6', 't(1;6)(p34;p21) / ', 'PHF1', 'MEAF6', '22761769', '18', 'endometrial stromal sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', '5\'-RACE, RT-PCR, and sequencing showed the presence of an MEAF6-PHF1 chimera in the tumor with exon 5 of MEAF6 being fused in-frame to exon 2 of PHF1 so that the entire PHF1 coding region becomes the 3\' terminal part of the MEAF6-PHF1 fusion. '), ('7065', 'ATIC_ALK', 't(2;5)(p23;q35) / / ', 'ATIC', 'ALK', '10706887', '18', 'non Hodgkin lymphoma;anaplastic large cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Our studies demonstrate an alternative mechanism for ALK involvement in the genesis of NHL and suggest that ATIC-ALK activation results from ATIC-mediated homodimerization.'), ('7066', 'NPM_ALK', 't(2;5)(p23;q35) / t(2;5) (p23;q35) / t(2;5) / t(2;5)  / ', 'NPM', 'ALK', '9844824', '18', 'anaplastic large cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We have previously developed a long-range genomic DNA-PCR assay to amplify the genomic NPM-ALK break points. '), ('7067', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '10611307', '18', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Instead, the AML1/ETO fusion protein is redirected by the ETO component to alternate nuclear matrix-associated foci. '), ('7068', 'RARA_PML', 't(11;17)(q23;q21) / t(11;17)(q23;q12) / t(15;17)(q22;q12) / ', 'RARA', 'PML', '23071480', '18', 'pulmonary tuberculosis;tuberculosis', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML-RARA is very important. '), ('7069', 'APOA5_APOA1', '1p13.3 / ', 'APOA5', 'APOA1', '19802338', '18', '', '', '', '', '', '', '', '', '', 'Genome-wide associations (P < 5 x 10(-8)) were found at the PCSK9 gene, the APOB gene, theLPL gene, the APOA1-APOA5 locus, the LIPC gene, the CETP gene, the LDLR gene, and the APOE locus. '), ('7070', 'TRIM33_BCAS2', '1p13.2 / ', 'TRIM33', 'BCAS2', '24189344', '18', '', '', '', '', '', '', '', '', '', 'Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 ?? 10(-8)), non-synonymous rs6537835 (P=3.26 ?? 10(-8)) and rs1877455 (P=8.70 ?? 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism. '), ('7071', 'ABCG8_ABCG5', '9p21.3 / 1p13.3 / ', 'ABCG8', 'ABCG5', '21966275', '18', '', '', '', '', '', '', '', '', '', 'Associations with variants at LIPA, TRIB1, and ABCG5/ABCG8 were supported by gene expression data or effects on lipid levels.     ///    \"In our replication study of 24 promising common variants, we identified novel associations of variants in or near LIPA, IL5, TRIB1, and ABCG5/ABCG8, with per-allele odds ratios for CAD risk with each of the novel variants ranging from 1.06-1.09. \"'), ('7072', 'RB1_DMR', '11p15.5 / ', 'RB1', 'DMR', '24373183', '18', 'hepatoblastoma\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'INPP5Fv2-DMR and RB1-DMR were hypermethylated with high frequencies. '), ('7073', 'OVOL1_AP5B1', '6p12.3 / ', 'OVOL1', 'AP5B1', '26542096', '18', 'eczema;infantile eczema', '', '', '', '', '', '', '', '', 'Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). '), ('7074', 'TSC2_PDK1', '16p13.3 / ', 'TSC2', 'PDK1', '11812941', '18', 'autosomal dominant polycystic kidney;epithelial neoplasms', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'This is the first description of the renal lesions in adults with genetically confirmed TSC2/PDK1 contiguous gene syndrome.     ///    \"We describe the lesions in the resected kidneys of two adults with TSC2/PDK1 contiguous gene syndrome, at the time of the nephrectomies: a 31-year-old man and his 44-year-old mother. \"'), ('7075', 'RGS_GAIP', '19p13.2 / 1p31.1 / 19p13.3 / ', 'RGS', 'GAIP', '12011974', '18', 'gastric cancer\r\r', '', '', '', '', '', '', '', '', 'PDZ domain of GIPC family proteins interact with Frizzled-3 (FZD3) class of WNT receptor, insulin-like growth factor-I (IGF1) receptor, receptor tyrosine kinase TrkA, TGF-beta type III receptor (TGF-beta RIII), integrin alpha6A subunit, transmembrane glycoprotein 5T4, and RGS19/RGS-GAIP. '), ('7076', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '21571108', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.. '), ('7077', 'CD33_CD13', 't(8;21)  / ', 'CD33', 'CD13', '9479874', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Cellular characteristics of acute leukemia cells simultaneously expressing CD13/CD33, CD7 and CD19.. '), ('7078', 'PTD_MLL', 't(8;21)(q22;q22) / inv(16)(p13q22) / t(15;17)(q21;q22) / t(7;12)(q36;p13) / ', 'PTD', 'MLL', '20971820', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'However, for NPM1, CEBPA, MLL(-PTD), FLT3(-ITD), KIT, PTPN11 and N/K-RAS gene expression signatures had limited predictive value. '), ('7079', 'UBCH6_RING105', '11p15.5 / ', 'UBCH6', 'RING105', '16314844', '18', 'hepatoblastoma', '', '', '', '', '', '', '', '', 'UbcH6-RING105 may define a novel ubiquitin-proteasome pathway that targets TSSC5 in mammalian cells.. '), ('7080', 'LIT1_DMR', '11p15.5 / ', 'LIT1', 'DMR', '12466290', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region..     ///    \"These data indicate that CGI8, called DMR-Lit1, is not only the region for gametic methylation but might also be the imprinting control region (ICR) of the subdomain.. \"'), ('7081', 'SH2B3_ATXN2', '3p25.3 / ', 'SH2B3', 'ATXN2', '23303523', '18', '', '', '', '', 'Tumor_suppressor', '', '', '', 'Seq', 'We also confirmed 10 previously known loci associated with SBP, DBP, MAP or PP (ADRB1, ATP2B1, SH2B3/ATXN2, CSK, CYP17A1, FURIN, HFE, LSP1, MTHFR, SOX6) at array-wide significance (P < 2.4 ?? 10(-6)). '), ('7082', 'LIT1_CDKN1C', '11p15.5 / ', 'LIT1', 'CDKN1C', '15007390', '18', 'esophageal cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'It has been, however, controversial whether the diminution is caused by imprinting disruption of the CDKN1C/LIT1 domain or by promoter hypermethylation of CDKN1C itself. '), ('7083', 'IL21_IL2', '8p23.1 / ', 'IL21', 'IL2', '21765104', '18', 'systemic lupus erythematosus;arthritis\r\r', '', '', '', '', '', '', '', '', 'Our results demonstrate that the IL2/IL21 region, C8orf13-BLK, and CD226 influence RA in Colombians, and RA shares some of the pathogenic mechanisms associated with other autoimmune diseases.. '), ('7084', 'VEGFA_SEMA3A', '3p21.1 / 3p21.31 / ', 'VEGFA', 'SEMA3A', '21842119', '18', 'mesothelioma\r\r', '', '', '', '', '', '', '', '', 'The expression ratio of VEGFA/SEMA3A was significantly higher in the epithelioid MMs than in Met5a, RMs and the non-epithelioid MMs. '), ('7085', 'NKG2D_KLRD1', '12p12.3 / ', 'NKG2D', 'KLRD1', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7086', 'STB1_CASQ1', '1p13.3 / ', 'STB1', 'CASQ1', '12011999', '18', 'leukemia;gastric cancer;lung cancer;melanoma\r\r', '', '', '', '', '', '', '', '', 'STB1-CASQ1 gene cluster and STB2-CASQ2 gene cluster might be generated due to duplication of ancestral gene cluster, and several genes might be inserted into the STB1-CASQ1 intergenic region during or after gene-cluster duplication. '), ('7087', 'NRAS_BRAF', '5p15.31 / ', 'NRAS', 'BRAF', '19226609', '18', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We first analyzed a panel of 52 melanoma cell lines (n = 35, 11, 6 for BRAF*, NRAS*, and BRAF/NRAS(wt/wt), respectively) by array-based comparative genomic hybridization for unique alterations that associate with each mutation subgroup.     ///    \"Subsequently, those DNA copy number changes that correlated with a mutation subgroup were used to predict the mutation status of an independent panel of 43 tumors (n = 17, 13, 13 for BRAF*, NRAS*, and BRAF/NRAS(wt/wt), respectively). \"    ///    BRAF* melanomas appear to be associated with a specific profile of DNA copy number aberrations that is distinct from those found in NRAS* and BRAF/NRAS(wt/wt) tumors. '), ('7088', 'BIM_BCL2', 'del(17p)  / ', 'BIM', 'BCL2', '22184378', '18', 'chronic lymphocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Low MCL1 expression and high BIM:MCL1 or BIM:BCL2 ratios in leukemic cells correlated with response. '), ('7089', 'GCB_BCL2', 't(14;18)  / ', 'GCB', 'BCL2', '21933893', '18', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Gene enrichment analysis identified significant enrichment of the DLBCL \"stromal-1\" signatures and hypoxia-inducible factor 1 (HIF1-?) signature in BCL2(-)GCB-DLBCL, whereas T(FH) cell signatures were enriched in BCL2(+)GCB-DLBCL. '), ('7090', 'TPTE_PTEN', '19p13.12 / ', 'TPTE', 'PTEN', '26076356', '18', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Exome sequencing of the family also identified a rare inherited variant predicted to disrupt splicing of TPTE / PTEN2, a PTEN homologue, which may likewise contribute to both macrocephaly and autism risk.. '), ('7091', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '26933465', '18', 'Beckwith Wiedemann syndrome', '', '', '', '', '', '', '', '', 'Comparison of methylation levels by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in borderline and control cases defined an interval of H19/IGF2:IG-DMR loss of methylation that was distinct between \"easy to diagnose\" and \"borderline\" cases, which were characterized by values ??mean -3 standard deviations (SDs) compared to controls.     ///    Values ??mean +1 SD at H19/IGF2: IG-DMR were assigned to borderline hypermethylated BWS cases and those ??mean -2 SD at KCNQ1OT1: TSS-DMR to hypomethylated BWS cases. '), ('7092', 'ERCC4_ERCC1', '16p13.1 / ', 'ERCC4', 'ERCC1', '8887684', '18', 'xeroderma pigmentosum', '', '', '', '', '', 'Transcription_Factor', '', '', 'The ERCC1-ERCC4 heterodimer, like the homologous Rad10-Rad1 complex, was recently found to possess an endonucleolytic activity that incises on the 5\' side of damage. '), ('7093', 'LIT1_KIP2', '11p15.5 / ', 'LIT1', 'KIP2', '12504849', '18', '', '', '', '', '', '', '', '', '', 'It remains to be elucidated whether the gene is under the control of the KIP2/LIT1 subdomain or is regulated by a specific mechanism. '), ('7094', 'CBF_AML1', '', 'CBF', 'AML1', '8565077', '18', '', '', '', '', '', '', '', '', '', ' The AML1-CBF beta transcription factor is the most frequent target of chromosomal rearrangements in human leukemia. '), ('7095', 'KRAS_BRAF', '2p24.3 / ', 'KRAS', 'BRAF', '25381643', '18', 'colorectal cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Additionally, we screened for BRAF/KRAS mutations and determined CpG island methylator phenotype (CIMP) status for all FCCTX tumours. '), ('7096', 'C1S_C1R', 't(1606) / ', 'C1S', 'C1R', '21238935', '18', 'blood platelet disorder', '', '', '', '', '', '', '', '', 'ADAMTS13 consists of numerous domains, including a metalloprotease domain, a disintegrin domain, several thrombospondin type 1 (TSP1) repeats, a cysteine-rich domain, a spacer domain, and two CUB (Complement c1r/c1s, sea Urchin epidermal growth factor, and Bone morphogenetic protein) domains. '), ('7097', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '23118352', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.. '), ('7098', 'TGFBR3_CDC7', '3p22.2 / ', 'TGFBR3', 'CDC7', '22058429', '18', 'glaucoma', '', 'Kinase', '', '', '', '', '', '', 'For the size of the optic disc, the study demonstrated a significant linkage signal (logarithm of odds (LOD)=3.6) at the LRP1B region on chromosome 2q21.2-q22.2 and significant association (p=8.95??10(-12)) with the previously reported CDC7/TGFBR3 locus at 1p22. '), ('7099', 'CMKBR5_CMKBR1', '3p21.3 / ', 'CMKBR5', 'CMKBR1', '8884276', '18', '', '', '', '', '', '', '', '', '', 'The genes encoding the human CC-chemokine receptors CC-CKR1 to CC-CKR5 (CMKBR1-CMKBR5) are clustered in the p21.3-p24 region of chromosome 3.. '), ('7100', 'C2_CFB', '6p21.3 / ', 'C2', 'CFB', '22694956', '18', 'age-related macular degeneration', '', '', '', '', '', '', '', '', 'This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)-HTRA1 (HtrA serine peptidase 1) (P =2.7 ?? 10(-72)), CFH (complement factor H) (P =2.3 ?? 10(-47)), C2 (complement component 2)-CFB (complement factor B) (P =5.2 ?? 10(-9)), C3 (complement component 3) (P =2.2 ?? 10(-3)) and CFI (P =3.6 ?? 10(-3)) and with more recently reported risk loci at VEGFA (P =1.2 ?? 10(-3)) and LIPC (hepatic lipase) (P =0.04). '), ('7101', 'DR5_DR4', 't(17;19) / t(17;19)  / ', 'DR5', 'DR4', '22743623', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'E2A-HLF induced gene expression of DR4/DR5, which was dependent on the DNA-binding and transactivation activities of E2A-HLF through the 5\' upstream region of the start site at least in the DR4 gene. '), ('7102', 'RET_PTC3', '', 'RET', 'PTC3', '10850426', '18', 'thyroid carcinoma;papillary carcinoma;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Moreover, we found the presence of the RET/ELE1 transcript, the reciprocal complementary form of the oncogenic fusion transcript ELE1/RET, in a papillary thyroid carcinoma specimen expressing the RET/PTC3 oncogene, thus demonstrating that the RET promoter is active in those cells after rearrangement. '), ('7103', 'MEK_ERK', 't(15;17) / ', 'MEK', 'ERK', '25817574', '18', 'acute myeloid leukemia', '', '', '', '', '', '', '', '', 'Kinases c-Raf, Src-family kinases Lyn and Fgr, and PI3K display highly correlated signaling changes during RA treatment, while activation of traditional downstream targets (Akt, MEK/ERK), and even the surface marker CD38, were poorly correlated with c-Raf or Lyn during differentiation. '), ('7104', 'ZNF259_BUD13', '6p12.3 / ', 'ZNF259', 'BUD13', '20442857', '18', '', '', '', '', '', '', '', '', '', 'SCARB1 on chromosome 12 (p = 1x10(-8)) and ZNF259/BUD13 in the APOA5/APOA1 gene region on chromosome 11 (p = 4 x 10(-8)). '), ('7105', 'EGFR_AKT1', '3p22.3 / ', 'EGFR', 'AKT1', '23893243', '18', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Thus, our findings suggest that CMTM7 is a novel 3p22 tumor suppressor regulating G1/S transition and EGFR/AKT signaling during tumor pathogenesis. '), ('7106', 'KCNQ1_KCNE2', '11p15.5 / ', 'KCNQ1', 'KCNE2', '12522251', '18', '', '', '', '', '', '', '', '', '', 'The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels.     ///    \"Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome. \"'), ('7107', 'HES_CEL', 'del (4)(q12q12) / ', 'HES', 'CEL', '17701174', '18', 'leukemia;hypereosinophilic syndrome\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To study the clinical characteristics of hypereosionophilic syndrome and chronic eosinophilic leukemia (HES/CEL) in Japan, the clinical data of 29 HES/CEL patients throughout the country were surveyed. '), ('7108', 'NUP98_NSD1', 't(8;21) / inv(16) / ', 'NUP98', 'NSD1', '26684393', '18', '', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'High PRDM16 expression identifies a prognostic subgroup of pediatric acute myeloid leukaemia correlated to FLT3-ITD, KMT2A-PTD, and NUP98-NSD1: the results of the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 trial..     ///    \"NUP98-NSD1, 100% vs. \"    ///     Recent reports described the NUP98-NSD1 fusion as an adverse prognostic marker for acute myeloid leukaemia (AML) and PRDM16 (also known as MEL1) as the representative overexpressed gene in patients harbouring NUP98-NSD1 fusion. '), ('7109', 'MOZ_CBP', 't(8;16)(p11;p13) / ', 'MOZ', 'CBP', '24390445', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This article stresses the importance of examination for the presence of the MOZ-CBP fusion at diagnosis to inform treatment decisions in congenital AML.     ///    \"This study reports a case of congenital AML where chemotherapy was discontinued after detection of a MOZ-CBP fusion, which remains in remission without additional treatment. \"'), ('7110', 'NEIL2_GATA4', '8p32.1 / 11p14.1 / ', 'NEIL2', 'GATA4', '26938199', '18', 'polycystic ovary syndrome', '', '', '', '', '', 'Transcription_Factor', '', '', 'The other SNPs near rs804279 (GATA4/NEIL2) were excluded based on our previous GWAS data. '), ('7111', 'BMP4_BMP2', '20p12.3 / ', 'BMP4', 'BMP2', '23161572', '18', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.. '), ('7112', 'FGF6_FGF23', '12p13.32 / ', 'FGF6', 'FGF23', '16012775', '18', 'hypophosphatemia;hypophosphatemic rickets', '', '', '', '', '', '', '', '', 'Intergenic conserved region (IGCR) within the FGF6-FGF23 gene cluster was identified based on the evolutionary conservation.     ///    This is the first report on comparative genomics analyses on human FGF6-FGF23 gene cluster and rodents Fgf6-Fgf23 gene cluster..     ///    Comparative genomics on mammalian Fgf6-Fgf23 locus..     ///    Human FGF6-FGF23 IGCR (nucleotide position 111648-112242 of AC008012.8 genome sequence) and rat Fgf6-Fgf23 IGCR (nucleotide position 156318-156894 of AC103292.6 genome sequence) showed 77.6% total nucleotide identity. '), ('7113', 'HPP_CFC', 't(9;22) (q34;q11) / ', 'HPP', 'CFC', '12080671', '18', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Meanwhile, bcr/abl mRNA expressions on 14- or 28-day colonies using HPP-CFC and CFU-GM semisolid agar culture assay were also determined in 4 cases of confirmed Ph-positive CML by karyotyping analysis. '), ('7114', 'P16_P15', '1p36.23 / 17p13.3 / 17p13.1 / ', 'P16', 'P15', '19435819', '18', 'glioblastoma multiforme\r\r', 'PCR', '', '', '', '', '', '', '', 'Either the p16(INK4A)/p15(INK4B)-CDK4/6-pRb or p14(ARF)-MDM2/4-p53 pathways were abnormal in 89% (49 of 55) of cases. '), ('7115', 'NPM_ALK', 't(2;5) / p23;q35 / ', 'NPM', 'ALK', '26709646', '18', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'resulting in expression of NPM-ALK oncogenic kinase, which is capable of activating multiple oncogenic pathways. '), ('7116', 'FAM111B_FAM111A', '3p11.2 / ', 'FAM111B', 'FAM111A', '22366784', '18', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'FAM111A-FAM111B), 10q26 (rs2252004. '), ('7117', 'SAPK_JNK', '11p15.5 / ', 'SAPK', 'JNK', '12963725', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Taken together, these findings suggest that p57KIP2 modulates stress-activated signaling by functioning as an endogenous inhibitor of JNK/SAPK..     ///    The carboxyl-terminal QT domain of p57KIP2 is crucial for the inhibition of JNK/SAPK. '), ('7118', 'MDM2_ARF', '1p36.23 / 17p13.3 / 17p13.1 / ', 'MDM2', 'ARF', '19435819', '18', 'glioblastoma multiforme\r\r', 'PCR', '', 'Oncogene', '', '', '', '', '', 'Either the p16(INK4A)/p15(INK4B)-CDK4/6-pRb or p14(ARF)-MDM2/4-p53 pathways were abnormal in 89% (49 of 55) of cases. '), ('7119', 'RARA_NPM', 't(5;17)  / ', 'RARA', 'NPM', '25791120', '18', 'leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'We now report that NPM-RAR expression is permissive for TNF activation of NF?B and JNK.     ///    \"We have previously shown that NPM-RAR interaction with TRADD blocks TNF activation of caspase 3, caspase 8, poly(ADP-ribose) polymerase (PARP) cleavage and, ultimately, apoptosis. \"    ///    \"We have previously shown that NPM-RAR is a binding partner of the tumor necrosis factor (TNF) receptor type-I-associated DEATH domain protein, TRADD. \"    ///    \"We propose that inhibition of TNF activation of apoptosis, while preserving TNF activation of NF?B and JNK pathways that stimulate cell growth and survival, represents a novel mechanism through which NPM-RAR contributes to development of the leukemic phenotype. \"    ///    \"NPM-RAR binding to TRADD selectively inhibits caspase activation, while allowing activation of NF?B and JNK.. \"');
INSERT INTO `ChimerPub_dump` VALUES ('7120', 'RUNX1T1_RUNX1', 't(8;21)(q22;q22) / ', 'RUNX1T1', 'RUNX1', '27139612', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'RUNX1-RUNX1T1.. '), ('7121', 'SGCE_DMR', '11p15.5 / ', 'SGCE', 'DMR', '23803580', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'In this study, the efficacy of the MS pyrosequencing method at H19-DMR and LIT1-DMR at 11p15 and SGCE-DMR at 7q21 was evaluated for the genetic diagnosis of BWS (n=18) and SRS (n=20) patients.     ///    \"Thirteen SRS patients (65%) harbored LOM at H19-DMR, whereas one patient (5%) had GOM at SGCE-DMR, reflecting maternal UPD 7. \"'), ('7122', 'BCR_ABL1', '7p15.2 / 17p13.3 / 9p24.1 / ', 'BCR', 'ABL1', '22456238', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Finally, BCR-ABL1 positive cases, in contrast to negative ones, were characterized by slightly, but still significantly, higher expression levels of miR-29b..     ///    \"miR-101-2 was recurrently downregulated, and although the related CNN LOH was detected only in BCR-ABL1 negative cases (2/14), deletions of miR-101-2 were observed solely in BCR-ABL1 positive cases (4/7). \"'), ('7123', 'IDDM1_IDDM', '6p21.3 / ', 'IDDM1', 'IDDM', '9662408', '18', 'diabetes\r\r', '', '', '', '', '', '', '', '', 'Previous genome screens and studies focused on candidate genes have provided evidence for genetic linkage between polymorphic DNA markers and 15 putative IDDM susceptibility loci, designated IDDM1-IDDM15. '), ('7124', 'LEU7_LIN28', 'chr19q13.41 / ', 'LEU7', 'LIN28', '24311633', '18', 'neuroectodermal tumor\r\r', '', '', '', '', '', '', '', '', 'A novel C19MC amplified cell line links Lin28/let-7 to mTOR signaling in embryonal tumor with multilayered rosettes.. '), ('7125', 'CST5_CST1', '20p11.2 / ', 'CST5', 'CST1', '11879580', '18', '', '', '', '', '', '', '', '', '', 'Expression of type 2 cystatin genes CST1-CST5 in adult human tissues and the developing submandibular gland.. '), ('7126', 'JAK2_ASXL1', 'del(20q) / del(17)  / del(12p)  / ', 'JAK2', 'ASXL1', '23996481', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia;polycythemia vera\r\r', '', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Overall survival was poor in patients with more than one mutation (P=0.001) and in patients with JAK2/ASXL1 mutations (P=0.02). '), ('7127', 'TMEM195_DGKB', 'chr1:217605433 / ', 'TMEM195', 'DGKB', '23494448', '18', 'insulin sensitivity', '', 'Kinase', '', '', '', '', '', '', 'The top signals for each locus were rs10241087 (DGKB/TMEM195 [TMEM195 also known as AGMO]) (p = 4.4 ?? 10(-5)). '), ('7128', 'TNF_APO2L', '11p11.2 / 10p11.2 / ', 'TNF', 'APO2L', '11146447', '18', 'glioma\r\r', '', '', '', '', '', '', '', '', 'It was the aim of our study to determine which genomic alterations in malignant gliomas modulate the sensitivity to chemotherapy or cytotoxic cytokines such as CD95 ligand (CD95L) or Apo2L/tumor necrosis factor-related apoptosis-inducing ligand (Apo2L/TRAIL). '), ('7129', 'RBM15_MKL1', 'p22;q23 / t(6;9)  / inv(3)  / ', 'RBM15', 'MKL1', '19860179', '18', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;polycythemia vera\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'RBM15-MKL1 are added to the subtype of AML with recurrent genetic abnormalities, and AML with gene mutations of NPM1 and CEBPA are also added as provisional entities of it. '), ('7130', 'MTOR_AKT1', 't(11;14)(q13;q32) / ', 'MTOR', 'AKT1', '19225536', '18', 'non Hodgkin lymphoma;mantle cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As mTOR signaling is activated in MCL and may control cyclin D1 levels, we show that p53 activation may downregulate the AKT/mTOR pathway through a mechanism involving AMP kinase (AMPK). '), ('7131', 'P23_P21', '8p23.1 / ', 'P23', 'P21', '11078815', '18', '', '', '', '', '', '', '', '', '', 'Of the 335 informative markers, 83 loci showed high level of LOH (presence in equal to or more than 30% cases) and most of the high frequent loci were clustered to chromosome 1p36 and 1p34, 3p14-p21, 3p24-p26, 3q25-q26 and 3q27, 4q31 and 4q35, 5q15-21 and 5q32-q33, 8p22-p23, 9p21-p23 and 9q33-q34, 11p12-p14, 13q14-q13 and 13q31-q32, 14q13-q11, 14q24-q23 and 14q32. '), ('7132', 'NUPR1_ERBB2', '8p23.1 / 16p11.2 / ', 'NUPR1', 'ERBB2', '22938721', '18', 'breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the independent replication, the patients who were double-positive for NUPR1-ERBB2 gains also had a significantly poorer prognosis on multivariate analysis (HR = 7.31, 95% CI 2.65-20.15, P = 0.0001). '), ('7133', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '9191052', '18', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Using recombinant proteins, both Pbx1 and E2a-Pbx1 heterodimerize with Hox proteins on bipartite elements, Pbx1 binding a 5\' TGAT core and Class I Hox proteins binding adjacent 3\' TAAT, TTAT, or TGAT cores.     ///    \"In vitro, the PCE fails to bind heterodimers of Class I Hox proteins plus either Pbx1 or E2a-Pbx1. \"    ///    \" Oncoprotein E2a-Pbx1 contains the N-terminal transactivation domains of E2a and the majority of the homeodomain protein, Pbx1. \"'), ('7134', 'STB2_CASQ2', '1p13.3 / ', 'STB2', 'CASQ2', '12011999', '18', 'leukemia;gastric cancer;lung cancer;melanoma\r\r', '', '', '', '', '', '', '', '', 'STB1-CASQ1 gene cluster and STB2-CASQ2 gene cluster might be generated due to duplication of ancestral gene cluster, and several genes might be inserted into the STB1-CASQ1 intergenic region during or after gene-cluster duplication. '), ('7135', 'LIF_GP130', '16p11.1 / 16p11.2 / ', 'LIF', 'GP130', '8833032', '18', '', '', '', '', '', '', '', '', '', 'Mouse CT-1 induces features of hypertrophy in neonatal rat cardiac myocytes and binds to and activates the leukaemia inhibitory factor/gp130 receptor complex. '), ('7136', 'PRDM16_ABL1', 't(8;21) / inv(16) / ', 'PRDM16', 'ABL1', '26684393', '18', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'PRDM16 gene expression levels were measured via real-time polymerase chain reaction in 369 paediatric patients with de novo AML, of whom 84 (23%) exhibited PRDM16 overexpression (PRDM16/ABL1 ratio ?0??010). '), ('7137', 'MUC5B_MS3', '11p15.5 / ', 'MUC5B', 'MS3', '19191526', '18', 'bladder cancer\r\r', '', '', '', '', '', '', '', '', 'Three (MUC5B-MS3, -MS6, and -MS7) of the seven minisatellites were found to be polymorphic and transmitted through meiosis following Mendelian inheritance in seven families. '), ('7138', 'MYH11_CBFB', 'inv(16)  / t(16;16) / inv(16) / p13.1;q22 / ', 'MYH11', 'CBFB', '23115274', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'CBFB-MYH11. '), ('7139', 'RUNX1_ETV6', 't(12;21)(p13;q22) / ', 'RUNX1', 'ETV6', '23694795', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'TEL-AML1 (ETV6-RUNX1) showing erythrophagocytosis and thrombophagocytosis by leukemic blasts.     ///    TEL-AML1 (ETV6-RUNX1).     ///    TEL-AML1 (ETV6-RUNX1): a case report.. '), ('7140', 'ARMS2_HTRA1', '6p21.3 / ', 'ARMS2', 'HTRA1', '22694956', '18', 'age-related macular degeneration', '', '', '', '', '', '', '', '', 'This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)-HTRA1 (HtrA serine peptidase 1) (P =2.7 ?? 10(-72)), CFH (complement factor H) (P =2.3 ?? 10(-47)), C2 (complement component 2)-CFB (complement factor B) (P =5.2 ?? 10(-9)), C3 (complement component 3) (P =2.2 ?? 10(-3)) and CFI (P =3.6 ?? 10(-3)) and with more recently reported risk loci at VEGFA (P =1.2 ?? 10(-3)) and LIPC (hepatic lipase) (P =0.04). '), ('7141', 'P18_CCND1', '19p13.2 / ', 'P18', 'CCND1', '8741839', '18', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Binary cyclin D1-p18/p19 or cyclin D1-CDK6 complexes are highly stable and cannot be dissociated by excess amounts of cyclin D1 or p19/p18 proteins, suggesting that p16 inhibitors and D cyclins may interact with CDKs 4 and 6 in a competing or potentially mutually exclusive manner.. '), ('7142', 'EDNRA_EDN1', '1p21.1 / ', 'EDNRA', 'EDN1', '25026904', '18', '', '', '', '', '', 'Receptor', '', '', '', 'Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1-EDNRA pathway during early pharyngeal arch patterning. '), ('7143', 'S100A7_JAB1', 't(12) / t(15) / t(34) / ', 'S100A7', 'JAB1', '19844956', '18', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'The structure of S100A7(3) provides a unique perspective from which to characterize the S100A7-Jab1 interaction and better understand the distinct functions between S100A7, and it is closely related paralog S100A15.. '), ('7144', 'SMMHC_FLT3', 'inv(16)  / inv(16)(p13q22) / inv(16) / ', 'SMMHC', 'FLT3', '17967943', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Analysis of transplanted animals showed strong selection for CBFbeta-SMMHC/FLT3-ITD-expressing cells in bone marrow and peripheral blood.     ///    \"FLT3-ITD also accelerated disease progression in all CBFbeta-SMMHC/FLT3-ITD-reconstituted animals, which died of a highly aggressive and transplantable AML within 3 to 5 months. \"'), ('7145', 'CD56_CD4', 't(2;5)  / ', 'CD56', 'CD4', '11488062', '18', 'T cell lymphoma;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'We report 4 cases of lymphomas/leukemias with the unusual CD56/CD4 phenotype.     ///    Normal lymphocytes with a CD56/CD4 phenotype are scarce. '), ('7146', 'KLRF1_CLECSF2', '12p12.3 / ', 'KLRF1', 'CLECSF2', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7147', 'SMRT_NCOR1', 't(8;21)  / ', 'SMRT', 'NCOR1', '17560331', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Structural basis for recognition of SMRT/N-CoR by the MYND domain and its contribution to AML1/ETO\'s activity.. '), ('7148', 'HIP1R_CCDC62', 'Chr3p24) / Chr5q31.1 / 9p13.3 / Chr4q21; / Chr1q32.1 / Chr4p15; / Chr2q24.3 / Chr12q12; / Chr1q21; / ', 'HIP1R', 'CCDC62', '21812969', '18', 'parkinson disease\r\r', '', '', '', '', '', '', '', '', 'In a recent meta-analysis of datasets from five of the published PD GWAS an additional 6 novel candidate genes (SYT11, ACMSD, STK39, MCCC1/LAMP3, GAK and CCDC62/HIP1R) were identified. '), ('7149', 'SH2B3_ATXN2', '1p31.3 / ', 'SH2B3', 'ATXN2', '26051272', '18', '', '', '', '', 'Tumor_suppressor', '', '', '', 'Seq', 'ATXN2/SH2B3), 5q33.3 (rs4921492. '), ('7150', 'PSRC1_CELSR2', '6p12.3 / ', 'PSRC1', 'CELSR2', '20442857', '18', '', '', '', '', '', 'Receptor', '', '', '', 'CELSR2/PSRC1 on chromosome 1 (p = 3 x 10(-15)). '), ('7151', 'HGF_GINGF', '2p22.3 / ', 'HGF', 'GINGF', '16098013', '18', 'gingival fibromatosis', '', '', '', '', '', '', '', '', 'To date, two loci have been mapped in familial cases with autosomal dominant non-syndromic HGF: GINGF (MIM 135300) on chromosome 2p21-p22 and GINGF2 (MIM 605544) on chromosome 5q13-q22. '), ('7152', 'TSC2_TSC1', '16p13.3 / ', 'TSC2', 'TSC1', '18830229', '18', 'tuberous sclerosis complex\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Here we investigate the effects of putative TSC1 missense mutations identified in individuals with signs and/or symptoms of TSC on TSC1-TSC2 complex formation and mTOR signalling. '), ('7153', 'MAFB_MAF', 't(11;14) / ', 'MAFB', 'MAF', '26526987', '18', 'multiple myeloma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Furthermore, complete remission was not significantly associated with the outcome of the MAF/MAFB (MF) subgroup or HiR cases. '), ('7154', 'CAV2_CAV1', '3p22.2 / ', 'CAV2', 'CAV1', '20062060', '18', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Five of the loci, SCN5A, SCN10A, NKX2-5, CAV1-CAV2, and SOX5, were also associated with atrial fibrillation (N = 5,741 cases, P < 0.0056).     ///    \"Six of the loci were near cardiac developmental genes, including CAV1-CAV2, NKX2-5 (CSX1), SOX5, WNT11, MEIS1, and TBX5-TBX3, providing pathophysiologically interesting candidate genes. \"'), ('7155', 'LIT1_KIP2', '11p15.5 / ', 'LIT1', 'KIP2', '12466290', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Because DNA methylation is believed to be a key factor in genomic imprinting, we performed large-scale DNA methylation analysis to identify the cis-element crucial for the regulation of the Kip2/Lit1 subdomain.     ///    Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region.. '), ('7156', 'APOA5_APOA1', '6p12.3 / ', 'APOA5', 'APOA1', '20442857', '18', '', '', '', '', '', '', '', '', '', 'SCARB1 on chromosome 12 (p = 1x10(-8)) and ZNF259/BUD13 in the APOA5/APOA1 gene region on chromosome 11 (p = 4 x 10(-8)). '), ('7157', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '12466290', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'The domain is thought to consist of the two subdomains Kip2 (p57(kip2))/Lit1 and Igf2/H19. '), ('7158', 'ZNF198_FGFR1', 'chr14:53880459-55011545 / ', 'ZNF198', 'FGFR1', '19506298', '18', 'myeloproliferative disorder;T cell lymphoma;lymphoblastic leukemia;T cell leukemia;leukemia;lymphoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'The absence of cell-surface T-cell receptor alpha in tumor cells precludes CD3 recruitment, resulting in loss of a functional T-cell receptor complex, supporting the idea that prevention of maturation of CD4(+)/CD8(+) double-positive immature T cells is important in ZNF198-FGFR1 disease development.     ///    Genetic fingerprinting of the development and progression of T-cell lymphoma in a murine model of atypical myeloproliferative disorder initiated by the ZNF198-fibroblast growth factor receptor-1 chimeric tyrosine kinase.. '), ('7159', 'GAPDH_AML1-MTG8', 't(8;21) / t(8;21)  / ', 'GAPDH', 'AML1-MTG8', '10520027', '18', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The AML1/MTG8 expression varied considerably among the 22 AML patients at intial diagnosis with a ratio AML1/MTG8:GAPDH of 0.5135+/-0.536 (range 0.1-2.14, median 0.318). '), ('7160', 'IGF2_IG', '11p15.5 / ', 'IGF2', 'IG', '26933465', '18', 'Beckwith Wiedemann syndrome', '', '', '', '', '', '', '', '', 'Values ??mean +1 SD at H19/IGF2: IG-DMR were assigned to borderline hypermethylated BWS cases and those ??mean -2 SD at KCNQ1OT1: TSS-DMR to hypomethylated BWS cases.     ///    \"Comparison of methylation levels by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in borderline and control cases defined an interval of H19/IGF2:IG-DMR loss of methylation that was distinct between \"\"easy to diagnose\"\" and \"\"borderline\"\" cases, which were characterized by values ??mean -3 standard deviations (SDs) compared to controls. \"'), ('7161', 'LIT1_KIP2', '11p15.5 / ', 'LIT1', 'KIP2', '16909133', '18', '', '', '', '', '', '', '', '', '', 'In Wilms\' tumours, mutation of the Wilms tumour 1 (WT1) gene at the WT1 locus has been reported, and the WT2 locus, comprising the two independent imprinted domains IGF2/H19 and KIP2/LIT1, can undergo maternal deletion or alterations associated with imprinting. '), ('7162', 'BCR_ABL1', '', 'BCR', 'ABL1', '10629590', '18', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The consequent BCR-int-ABL transcript was translated into a BCR-ABL protein of 1804 amino acid residues with a molecular mass of 197.5 kilodaltons (kDa) called p200 BCR-ABL. '), ('7163', 'ZIC5_ZIC2', 'del(13)(q32) / ', 'ZIC5', 'ZIC2', '21496007', '18', 'holoprosencephaly;neural tube defect', '', '', '', '', '', '', '', '', 'We reviewed the literature for ZIC2-ZIC5 deletions and their involvement in neural tube defects (NTDs). '), ('7164', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '23359026', '18', 'lung cancer', '', '', '', '', '', 'Transcription_Factor', '', '', 'These results suggest that genetic variants in the TERT-CLPTM1L gene may predispose individuals to be susceptible to LC, particularly NSCLC, in the Chinese population..     ///    We found that the rs401681C/T allele in the TERT-CLPTM1L gene was associated with the risk of non-small cell lung cancer [NSCLC. '), ('7165', 'TSC2_TSC1', '16p13.3 / ', 'TSC2', 'TSC1', '18302728', '18', 'tuberous sclerosis complex\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex..     ///    We have used a combination of different assays to characterise the effects of a number of pathogenic TSC2 amino acid substitutions on TSC1-TSC2 complex formation and mTOR signalling. '), ('7166', 'KCNQ1_KCNE3', '11p15.5 / ', 'KCNQ1', 'KCNE3', '12522251', '18', '', '', '', '', '', '', '', '', '', 'The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels. '), ('7167', 'LY49L_KLRC1', '12p12.3 / ', 'LY49L', 'KLRC1', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7168', 'KCNJ11_ABCC8', '11p15.1 / ', 'KCNJ11', 'ABCC8', '25955821', '18', 'diabetes', '', '', '', '', '', '', '', '', 'Our calculations identified causal genetic variation within the ABCC8/KCNJ11 region for T2DM with an OR of approximately 1.15 in Caucasians and Asians. '), ('7169', 'TNXB_TNXA', '6p21.3 / ', 'TNXB', 'TNXA', '15684714', '18', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'and (c) C4A-CYP21P-TNXA/TNXB, in which the TNX A and B genes are fused.     ///    and two kinds of TNXA/TNXB hybrids were found in the C4A-CYP21P-TNXA/TNXB locus.     ///    The existence of the C4A-CYP21P-TNXA/TNXB locus might not be common in CAH patients with 21-hydroxylase deficiency.. '), ('7170', 'ESR1_CCDC170', '1p31.3 / ', 'ESR1', 'CCDC170', '26911590', '18', '', '', '', '', '', 'Receptor', 'Transcription_Factor', '', 'Seq', 'Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density..     ///    Genetic variation at the WLS and CCDC170/ESR1 loci were found to be significantly associated with BMD adjusted for only age and gender at the genome-wide level in this meta-analysis.. '), ('7171', 'KIF3A_IL4', '6p12.3 / ', 'KIF3A', 'IL4', '26542096', '18', 'eczema;infantile eczema', '', '', '', '', '', '', '', '', 'Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). '), ('7172', 'TR4_TR1', '11p15.5 / ', 'TR4', 'TR1', '11535137', '18', '', '', '', '', '', '', '', '', '', 'Cys-domains 1-9 are interspersed by four domains (TR1-TR4) composed of various numbers of MUC5AC-type repeats. '), ('7173', 'HBB_CALCA', '11p15.5 / ', 'HBB', 'CALCA', '2550179', '18', 'adrenocortical carcinoma', '', '', '', '', '', '', '', '', 'The allelic distribution of chromosome 11-specific markers spanning chromosome 11 from pter to qter (HRAS1-HBB-[CALCA/PTH]-FSHB-CAT-APOA1) and an approach combining RFLP analysis and gene copy number determination showed that a mitotic deletion had occurred in both tumors. '), ('7174', 'XPG_XPA', '6p21.1 / ', 'XPG', 'XPA', '14705792', '18', 'xeroderma pigmentosum', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Xeroderma pigmentosum is genetically heterogeneous and is classified into seven complementation groups (XPA-XPG) that correspond to genetic alterations in one of seven genes involved in NER. '), ('7175', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '20007505', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases).     ///    \"Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.. \"'), ('7176', 'MCL1_BIM', 'del(17p)  / ', 'MCL1', 'BIM', '22184378', '18', 'chronic lymphocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Low MCL1 expression and high BIM:MCL1 or BIM:BCL2 ratios in leukemic cells correlated with response. '), ('7177', 'MUC5B_MS1', '11p15.5 / ', 'MUC5B', 'MS1', '19191526', '18', 'bladder cancer\r\r', '', '', '', '', '', '', '', '', 'Six (MUC5B-MS1, -MS2, -MS3, -MS4, -MS5, and -MS7) of the seven minisatellites evaluated in this study were novel minisatellites, but the MUC5B-MS6 minisatellite was described in a previous study. '), ('7178', 'MRP3_MRP1', 't(443) / ', 'MRP3', 'MRP1', '18775981', '18', '', '', '', '', '', '', '', '', '', 'We have constructed a series of MRP1/MRP3 hybrids and used them to identify a region of MRP1 that is critical for binding and transport of GSH conjugates such as leukotriene C(4) (LTC(4)). '), ('7179', 'CCK2R_CCK1R', 't(121)  / ', 'CCK2R', 'CCK1R', '25319540', '18', '', '', '', '', '', '', '', '', '', 'Chimeric CCK1R/CCK2R constructs were used to explore the molecular basis of T-0632 binding. '), ('7180', 'LRRC32_C11orf30', '6p12.3 / ', 'LRRC32', 'C11orf30', '26542096', '18', 'eczema;infantile eczema', '', '', '', '', '', '', '', '', 'Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). '), ('7181', 'RUNX1_ETV6', 't(9;22) / t(9;22)  / ', 'RUNX1', 'ETV6', '20016538', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Although long-term outcome in TPOG clinical trials is comparable with results being reported worldwide, the persistent strength of certain prognostic variables and the lower frequencies of favorable outcome predictors, such as ETV6-RUNX1 and hyperdiploidy >50, in Taiwanese children warrant renewed effort to cure a higher proportion of patients while preserving their quality of life.. '), ('7182', 'FKBPL_AR', '6p21.3 / ', 'FKBPL', 'AR', '20210997', '18', 'male infertility', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'FKBPL-AR interaction was assayed using reporter constructs in vitro. '), ('7183', 'TSC2_PKD1', '16p13.3 / ', 'TSC2', 'PKD1', '17909474', '18', 'tuberous sclerosis\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', '[TSC2/PKD1 contiguous gene syndrome.     ///    \"A simultaneous loss of both genes has been termed \"\"the TSC2/PKD1 contiguous gene syndrome\"\". \"'), ('7184', 'TWIST1_FERD3L', '7p21.1 / ', 'TWIST1', 'FERD3L', '25388417', '18', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Gene expression studies in peripheral blood mononuclear cells revealed increased mRNA levels of HDAC9 but not of neighboring genes (TWIST1/FERD3L) in risk allele carriers of rs2107595. '), ('7185', 'SLC6A14_AGTR2', 'chr3q29  / chr5p15.3 / chr6p21.3 / chr11p12- / ', 'SLC6A14', 'AGTR2', '26417704', '18', 'cystic fibrosis\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'P=1.2 ?? 10(-8)) and chrXq22-q23 (AGTR2/SLC6A14. '), ('7186', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '16909133', '18', '', '', '', '', '', '', '', '', '', 'In Wilms\' tumours, mutation of the Wilms tumour 1 (WT1) gene at the WT1 locus has been reported, and the WT2 locus, comprising the two independent imprinted domains IGF2/H19 and KIP2/LIT1, can undergo maternal deletion or alterations associated with imprinting. '), ('7187', 'H2B_H2A', '6p21.3 / ', 'H2B', 'H2A', '10064132', '18', '', '', '', '', '', '', '', '', '', 'Each H2A/H2B gene pair is controlled by a divergent promoter spanning 300 to 330 nucleotides between the coding regions of the two genes.     ///    The highly conserved divergent H2A/H2B promoters can be classified in two groups based on the patterns of consensus sequence elements.     ///    \"14 of these are organized as H2A/H2B gene pairs, while one H2A gene and three H2B genes are solitary genes. \"'), ('7188', 'PTHR1_PTHLH', '12p11.23 / 12p11.22 / ', 'PTHR1', 'PTHLH', '21082660', '18', 'Ollier disease', '', '', '', '', '', '', '', '', 'Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited.. '), ('7189', 'H19_DMR', '11p15.5 / ', 'H19', 'DMR', '23803580', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Thirteen BWS patients (72%) harbored loss-of-methylation (LOM) at LIT1-DMR and two patients (11%) harbored gain-of-methylation (GOM) at H19-DMR, whereas two patients (11%) had both LOM at LIT1-DMR and GOM at H19-DMR, reflecting paternal UPD 11.     ///    Birth anthropometric profiles were significantly correlated to methylation scores at either H19-DMR or LIT1-DMR.     ///    \"In this study, the efficacy of the MS pyrosequencing method at H19-DMR and LIT1-DMR at 11p15 and SGCE-DMR at 7q21 was evaluated for the genetic diagnosis of BWS (n=18) and SRS (n=20) patients. \"    ///    \"Thirteen SRS patients (65%) harbored LOM at H19-DMR, whereas one patient (5%) had GOM at SGCE-DMR, reflecting maternal UPD 7. \"'), ('7190', 'RND3_RBM43', '1p36.12 / 6p22.3 / ', 'RND3', 'RBM43', '23472165', '18', '', '', '', '', '', '', '', '', '', 'P?=?8.65??10(-9), OR?=?1.29, CI?=?1.18-1.40) and RND3-RBM43 on 2q23.3 (rs1519761. '), ('7191', 'NFKB1_MANBA', '1p31.3 / ', 'NFKB1', 'MANBA', '26051272', '18', '', '', '', '', '', '', 'Transcription_Factor', '', 'Seq', 'MANBA/NFKB1), and 2q33.2 (rs6748088. '), ('7192', 'CX43_CD34', 'del(13) / ', 'CX43', 'CD34', '17455098', '18', 'hemangiopericytoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'However, one of the latter was rich in gap junctions, a feature consistent with strong connexin (Cx) 43 staining and the existence, hitherto unappreciated, of a CD34/Cx43-positive tumor cell network. '), ('7193', 'SMS_PTLS', '17p11.2 / ', 'SMS', 'PTLS', '22654670', '18', 'Smith-Magenis syndrome', '', '', '', '', '', '', '', '', 'We previously constructed mouse strains with a deletion, Df(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. '), ('7194', 'CTNNB1_TCF', '3p14.3 / 12p13.33 / ', 'CTNNB1', 'TCF', '15754042', '18', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Canonical WNTs (WNT2, WNT2B, etc) activate the beta-catenin-TCF pathway to induce carcinogenesis, while non-canonical WNTs (WNT5A, WNT11, etc) activate the planar cell polarity (PCP) pathway to induce cell motility and metastasis. '), ('7195', 'PTD_MLL', 'inv(16) / t(15;17)  / ', 'PTD', 'MLL', '22915059', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', '', '', '', 'Multivariate analyses in 74 AML patients revealed that FLT3-ITD, MLL-PTD, and KIT mutations were associated with poor prognosis. '), ('7196', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '24934635', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'We investigated whether common variation in copy number in the BWS/SRS 11p15 region or altered methylation levels at IGF2/H19 ICR or KCNQ10T1 ICR was associated with SGA. '), ('7197', 'TEK_ANG2', 't(8;21)  / t(8;21) / ', 'TEK', 'ANG2', '11840270', '18', 'leukemia\r\r', '', 'Kinase', '', '', '', '', '', '', 'KG-1 had mRNA expression profile of Ang-1(+)Ang-2(-)Tie-2(+), while KG-1a showed Ang-1(+)Ang-2(+)Tie-2(-). '), ('7198', 'RAD10_RAD1', '16p13.1 / ', 'RAD10', 'RAD1', '8887684', '18', 'xeroderma pigmentosum', '', '', '', '', '', '', '', '', 'The ERCC1-ERCC4 heterodimer, like the homologous Rad10-Rad1 complex, was recently found to possess an endonucleolytic activity that incises on the 5\' side of damage. '), ('7199', 'CXCR4_CXCL12', 't(1013) / ', 'CXCR4', 'CXCL12', '22438253', '18', '', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Treatment with CXCL12/CXCR4 antagonists transiently reverses blood anomalies, further demonstrating the causal role of the mutant receptor in the leukopenia. '), ('7200', 'TSC2_PKD1', '16p13.3 / ', 'TSC2', 'PKD1', '11812941', '18', 'autosomal dominant polycystic kidney;epithelial neoplasms', '', '', '', 'Tumor_suppressor', '', '', '', '', 'The pathologic findings highlight the importance of thorough sampling for histology in polycystic kidney diseases and indicate that the observation of an angiomyolipoma in biopsy material from patients with enlarged cystic kidneys should suggest the diagnosis of TSC2/PKD1 contiguous gene syndrome, even in cases without ultrasonographic and macroscopic evidence of angiomyolipoma..     ///    Renal disease in adults with TSC2/PKD1 contiguous gene syndrome..     ///    This disease has been termed the TSC2/PKD1 contiguous gene syndrome. '), ('7201', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '15374880', '18', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Previously, NPM-ALK had been shown to activate the phosphatidylinositol 3 kinase (PI3K)/Akt pathway. '), ('7202', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '7920666', '18', '', '', '', '', '', '', '', '', '', 'IGF2 mRNA was expressed in most but not all WTs and expression patterns were consistent with IGF2/H19 enhancer competition without obligate inverse coupling. '), ('7203', 'PRB_P16', '3p14.1 / ', 'PRB', 'P16', '11599796', '18', 'esophageal cancer\r\r', '', '', '', '', '', '', '', '', 'Esophageal squamous cell carcinomas with DNA replication errors (RER+) are associated with p16/pRb loss and wild-type p53.. '), ('7204', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '20802237', '18', 'oropharyngeal cancer', '', '', '', '', '', 'Transcription_Factor', '', '', 'Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck.. '), ('7205', 'RAD21_CTCF', '', 'RAD21', 'CTCF', '24200685', '18', 'T ALL\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Loss of GATA1 results in disassembly of the hub and loss of CTCF/RAD21 from one of its insulators. '), ('7206', 'MYH11_CBF', 'inv(16) / ', 'MYH11', 'CBF', '10705822', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Only 8 of 20 CBF beta/MYH11-positive patients had M4Eo morphologic features.     ///    High concordance of karyotype analysis and RT-PCR for CBF beta/MYH11 in unselected patients with acute myeloid leukemia. '), ('7207', 'COQ7_CLK1', '16p12.3 / ', 'COQ7', 'CLK1', '10373327', '18', '', '', 'Kinase', '', '', '', '', '', '', 'In the present study, we isolated and characterized human and mouse orthologues of the COQ7/CLK-1 gene. '), ('7208', 'NPM1_FLT3', 't(8;21) / ', 'NPM1', 'FLT3', '21504297', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'With respect to FLT3 and NPM1 mutations, WT1 was more predominant in FLT3 positive cases and less in NPM1 mutation cases, while no KIT mutation was found in FLT3/NPM1 positive cases.. '), ('7209', 'TLS_CHOP', 't(12;16)  / t(12;22)  / ', 'TLS', 'CHOP', '10449603', '18', 'liposarcoma', 'PCR', '', '', '', '', '', '', '', 'Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas..     ///    \"The chimeric TLS-CHOP or EWS-CHOP proteins most probably function as abnormal transcription factors, causing transcriptional de-regulation of several target genes and relaxation of functions critical for growth and differentiation control. \"'), ('7210', 'MAPK14_JNK', '1p31.1 / ', 'MAPK14', 'JNK', '18552163', '18', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'TNNI3K suppressed phosphorylation of cardiac troponin I, annexin-V(+) cells, Bax protein, and p38/JNK-mediated apoptosis.     ///    \"In conclusion, our study clearly indicates that TNNI3K promotes cardiomyogenesis, enhances cardiac performance, and protects the myocardium from ischemic injury by suppressing p38/JNK-mediated apoptosis. \"'), ('7211', 'RARA_NPM', 't(5;17)(q35;q21) / ', 'RARA', 'NPM', '24183235', '18', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'U937 subclones expressing the NPM-RAR mutants showed significantly less inhibition of vitamin D3/TGFbeta-induced differentiation, compared with NPM-RAR. '), ('7212', 'RASSF5_RASSF4', '3p21.3 / ', 'RASSF5', 'RASSF4', '14743209', '18', '', '', '', '', '', '', '', '', '', 'NORE1B and RASSF3 were not methylated in gliomas, while NORE1A and RASSF5/AD037 demonstrated methylation in glioma cell lines but not in primary tumors. '), ('7213', 'TLD_FLT3', 't(15;17) / ', 'TLD', 'FLT3', '17965322', '18', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' We characterized the mutational status of the FLT3 tyrosine kinase domain (FLT3-TLD) in 3082 patients with newly diagnosed AML. '), ('7214', 'RARA_PML', '', 'RARA', 'PML', '8380300', '18', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In addition, structural data provided by PML-RARA transcripts allowed us to more accurately locate the 3\' borders of clusters bcr1 and bcr3. '), ('7215', 'IDH2_IDH1', 'inv(3) / t(3;3) / ', 'IDH2', 'IDH1', '21343560', '18', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations. '), ('7216', 'TSC2_PKD1', '16p13.3 / ', 'TSC2', 'PKD1', '26501044', '18', 'autosomal dominant polycystic kidney;cystic kidney disease', '', '', '', 'Tumor_suppressor', '', '', '', '', 'It is also associated with TSC2/PKD1 contiguous gene syndrome. '), ('7217', 'RIPK2_NOD2', '1p31.3 / ', 'RIPK2', 'NOD2', '22019778', '18', 'leprosy', '', 'Kinase', '', '', '', '', '', '', 'Furthermore, we identified evidence of interaction between the NOD2 and RIPK2 loci, which is consistent with the biological association of the proteins encoded by these genes (NOD2-RIPK2 complex) in activating the NF-?B pathway as a part of the host defense response to infection. '), ('7218', 'DNMT3B_DNMT1', '3p22.3 / ', 'DNMT3B', 'DNMT1', '19156137', '18', 'colon cancer;gastric cancer', '', '', '', '', '', 'Transcription_Factor', '', '', 'DLEC1 expression was reactivated through pharmacologic or genetic demethylation, indicating a DNMT1/DNMT3B-mediated methylation silencing. '), ('7219', 'P11_NANOGP2', 't(4;11)  / ', 'P11', 'NANOGP2', '20427424', '18', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'However, the NANOG1 gene belongs to a gene family, including a gene tandem duplication (named NANOG2 or NANOGP1) and several pseudogenes (NANOGP2-P11). '), ('7220', 'TPM3_ALK', '', 'TPM3', 'ALK', '26773439', '18', 'renal cell carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Further investigation revealed ALK rearrangements in all cases, manifested molecularly by fusion transcripts of either VCL-ALK (3 patients all with sickle cell trait which had been previously reported) or TPM3-ALK (3 patients, none with sickle cell trait). '), ('7221', 'CD18_CD11C', 't(15;17)  / ', 'CD18', 'CD11C', '7915840', '18', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We show that resistance to maturation is not a mere unresponsiveness to RA: rather, R1 \"resistant\" cells do respond to RA (1 microM) by sustained growth, become competent to undergo terminal maturation, and up-regulate CD11c/CD18 integrins. '), ('7222', 'GAPDH_ETO', 't(8;21)  / ', 'GAPDH', 'ETO', '15748440', '18', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The results showed that the ratio of AML1/ETO: GAPDH expression level at new diagnosis varied in the range 0.219-2.080 (median 0.648) among the patients, without relevance with percentage of blasts. '), ('7223', 'SKP1_FBX29', '6p21.1 / ', 'SKP1', 'FBX29', '16142236', '18', '', '', '', '', '', '', '', '', '', 'Using deletion analysis, we found that CUL7 uses its central region to interact with the Skp1-Fbx29 heterodimer. '), ('7224', 'CD5_CD43', 't(11;14) / t(11;14)  / ', 'CD5', 'CD43', '17316759', '18', 'MALT Lymphoma', '', '', '', '', '', '', '', '', 'By immunohistochemistry, cyclin D1 was positive (3 of 3), CD23 was negative (3 of 3), and aberrant expression of CD5/CD43 was present in 1 case. '), ('7225', 'P57_LIT1', '11p15.5 / ', 'P57', 'LIT1', '12466290', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'The domain is thought to consist of the two subdomains Kip2 (p57(kip2))/Lit1 and Igf2/H19. '), ('7226', 'CDKN2B_CDKN2A', '1p31.1 / ', 'CDKN2B', 'CDKN2A', '26089329', '18', '', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Four of 7 previously reported ischemic stroke loci (PITX2, HDAC9, CDKN2A/CDKN2B, and ZFHX3) were nominally associated (P<0.05) with stroke in COMPASS. '), ('7227', 'HES_CEL', 'del(4)(q12;q12) / ', 'HES', 'CEL', '16430106', '18', 'hypereosinophilic syndrome,;left ventricular dysfunction', '', '', '', '', '', '', '', '', 'Other therapeutical options for HES/CEL have been mentioned. '), ('7228', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '22179823', '18', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK signals through glycogen synthase kinase 3? to promote oncogenesis..     ///    Phosphorylation of pS(9)-GSK3? by NPM-ALK was mediated by the PI3K/AKT signaling pathway.     ///    Our results demonstrate that NPM-ALK regulates the phosphorylation of S(9)-GSK3? by PI3K/AKT.     ///    \"Using a mass spectrometry-based phosphoproteomic screen, we identified GSK3? as a signaling mediator of NPM-ALK. \"    ///    These findings provide support for the role of GSK3? as a mediator of NPM-ALK oncogenesis..     ///    \"Expression of NPM-ALK in 293T cells led to an increase of pS(9)-GSK3? (glycogen synthase kinase 3 beta) compared with kinase-defective K210R mutant NPM-ALK, but did not affect total GSK3? levels. \"    ///    \"NPM-ALK is a chimeric tyrosine kinase, which induces numerous signaling pathways that drive proliferation and abrogate apoptosis. \"'), ('7229', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '20060582', '18', '', '', '', '', '', '', '', '', '', 'Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia.. '), ('7230', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '18473334', '18', 'Beckwith Wiedemann syndrome', '', '', '', '', '', '', '', '', 'A subset of RS cases were recently shown to have mosaic hypomethylation within the H19/IGF2 imprinting center, predicted to silence paternally expressed IGF2 in early development.     ///    A total of three samples with paternal duplication affecting the H19/IGF2 region were scored as equivocal by both methods. '), ('7231', 'ETO_AML1', 't(11;19)  / ', 'ETO', 'AML1', '9823940', '18', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'A sustained and persistent elimination of an AML1/ETO-positive leukemic clone in an AML-M2 patient was observed. '), ('7232', 'PC3_AR', '8p23.2 / ', 'PC3', 'AR', '17868871', '18', 'prostate cancer\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'However, hBD-1 has no effect on the growth of androgen receptor (AR) positive LNCaP prostate cancer cells, but was again growth suppressive to PC3 cells with ectopic AR expression (PC3/AR+). '), ('7233', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '25126724', '18', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Importantly, the knockdown phenotypes for DRAM2 are similar to the effects of overexpressing MIR125B1 as impairment of PML-RARA degradation, inhibition of autophagy, and myeloid cell differentiation arrest.     ///    MIR125B1 represses the degradation of the PML-RARA oncoprotein by an autophagy-lysosomal pathway in acute promyelocytic leukemia..     ///    \"Here, we demonstrated that MIR125B1 abundance correlates with the PML-RARA status. \"    ///    MIR125B1 overexpression enhanced PML-RARA expression and inhibited the ATRA-induced degradation of the PML-RARA oncoprotein.     ///    RNA-seq analysis revealed a direct link between the PML-RARA degradation pathway and MIR125B1-arrested differentiation.     ///    \"We further demonstrated that the MIR125B1-mediated blockade of PML-RARA proteolysis was regulated via an autophagy-lysosomal pathway, contributing to the inhibition of APL differentiation. \"'), ('7234', 'PRSS1_CASP2', '7p15.1 / ', 'PRSS1', 'CASP2', '10777670', '18', '', '', '', '', '', '', '', '', '', 'This raises the question whether the human homologue of Lyp is linked to CASP2/PRSS1 or to NPY. '), ('7235', 'CDKN2B_CDKN2A', '9p21.3 / ', 'CDKN2B', 'CDKN2A', '23101500', '18', 'neurofibroma', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing. '), ('7236', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '17158821', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'By analysing the methylation pattern at the IGF2-H19 locus together with the clinical phenotypes in the individuals with maternal and those with paternal transmission of five different deletions, we demonstrate that maternal transmission of 1.4-1.8 kb deletions in the IC1 region co-segregates with the hypermethylation of the residual CTSs and BWS phenotype with complete penetrance, whereas normal phenotype is observed upon paternal transmission.     ///    \"Furthermore, we observe that the hypermethylation resulting from the deletions is always mosaic, suggesting that the epigenetic defect at the IGF2-H19 locus is established post-zygotically and may cause body asymmetry and heterogeneity of the clinical phenotype. \"'), ('7237', 'VEGFR_VEGF', 't(8;21)(q22;q22) / ', 'VEGFR', 'VEGF', '23149070', '18', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Our data demonstrate that in the AML Kasumi-1 cell line, bearing the N822K c-kit mutation, dasatinib is a potent suppressor of c-kit and Src kinase activity and inhibits the phosphorylation of their downstream target AKT, possibly through the Src-mediated VEGF/VEGFR receptor type 2 pathway. '), ('7238', 'SRM_ESI', 't(259) / t(262) / t(296)  / t(259)  / ', 'SRM', 'ESI', '26655505', '18', '', '', '', '', '', '', '', '', '', 'Quantitative LC/ESI-SRM/MS analyses confirmed a time-dependent increase in the relative oxidation of target peptides (P1 and P2) containing these Met residues, upon UVA irradiation of isolated human skin. '), ('7239', 'REL_BCL11A', '6p12.3 / 1p36.3 / ', 'REL', 'BCL11A', '12406872', '18', 'diffuse large cell lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Some of the genomic aberration acquired upon transformation, such as gain/amplification of 1q21-q24, 2p16 (REL/BCL11A gene loci), 3q27-q29 (including the BCL6 locus), 7q11.2-q22.1, 12pter-q12, 18q21 (including the BCL2 locus) and Xq, and deletion of 6q22-q24, 13q14-q21 and 17p13 (P53 locus) have been previously implicated in the FCL/DLBCL pathogenesis. '), ('7240', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '26691664', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'We now describe two further MZ SRS twins with H19/IGF2:IG-DMR hypomethylation, including the first clinically concordant pair. '), ('7241', 'NPM1_FLT3', 't(8;21)  / t(15;17)  / ', 'NPM1', 'FLT3', '25794001', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Furthermore, multivariate analyses showed that higher Robo4 expression was an independent poor prognostic factor for DFS and OS in total cohort and patients with intermediate-risk cytogenetics, irrespective of age, WBC count, karyotype, and mutation status of NPM1/FLT3-ITD, and CEBPA. '), ('7242', 'RARA_PML', 't(15;17)  / t(11;17)  / ', 'RARA', 'PML', '10373566', '18', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PIC-1/SUMO-1-modified PML-retinoic acid receptor alpha mediates arsenic trioxide-induced apoptosis in acute promyelocytic leukemia.. '), ('7243', 'LCE3C_LCE3B', '6p21.3 / ', 'LCE3C', 'LCE3B', '25488777', '18', 'psoriasis;psoriatic arthritis', '', '', '', '', '', '', '', '', 'Prominent genes identified via GWAS include HLA-Cw6, IL12B, IL23R, IL23A, TNIP1, TNFAIP3, LCE3B-LCE3C, TRAF3IP2, NFkBIA, FBXL19, TYK2, IFIH1, REL, and ERAP1. '), ('7244', 'PTH_CALCA', '11p15.5 / ', 'PTH', 'CALCA', '2550179', '18', 'adrenocortical carcinoma', '', '', '', '', '', '', '', '', 'The allelic distribution of chromosome 11-specific markers spanning chromosome 11 from pter to qter (HRAS1-HBB-[CALCA/PTH]-FSHB-CAT-APOA1) and an approach combining RFLP analysis and gene copy number determination showed that a mitotic deletion had occurred in both tumors. '), ('7245', 'RSK2_ERK', 't(4;14) / ', 'RSK2', 'ERK', '17785202', '18', '', '', '', '', '', '', '', '', '', 'Our findings suggest that FGFR3 mediates hematopoietic transformation by activating RSK2 in a two-step fashion, promoting both the ERK-RSK2 interaction and subsequent phosphorylation of RSK2 by ERK.. '), ('7246', 'MEG3_DLK1', '19p13.2 / ', 'MEG3', 'DLK1', '19966805', '18', 'systemic lupus erythematosus\r\r', '', '', '', '', '', '', '', '', 'The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.. '), ('7247', 'PTH_FSHB', '11p15.5 / ', 'PTH', 'FSHB', '2550179', '18', 'adrenocortical carcinoma', '', '', '', '', '', '', '', '', 'The allelic distribution of chromosome 11-specific markers spanning chromosome 11 from pter to qter (HRAS1-HBB-[CALCA/PTH]-FSHB-CAT-APOA1) and an approach combining RFLP analysis and gene copy number determination showed that a mitotic deletion had occurred in both tumors. '), ('7248', 'EDA2R_AR', '7p21.1 / ', 'EDA2R', 'AR', '22032556', '18', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Numerous studies have unequivocally identified two major genetic risk loci for AGA: the X-chromosomal AR/EDA2R locus, and the PAX1/FOXA2 locus on chromosome 20. '), ('7249', 'CDKN2B_ARF', '5p15.33 / ', 'CDKN2B', 'ARF', '22899653', '18', 'squamous cell carcinoma;lung cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16(INK4A)/p14(ARF)/CDKN2B/p15(INK4B)/ANRIL. '), ('7250', 'COMMD10_AP3S1', '', 'COMMD10', 'AP3S1', '24151535', '18', 'colorectal cancer\r\r', '', '', '', '', '', '', '', 'Seq', '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.     ///    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.     ///    \"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. \"'), ('7251', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '11056398', '18', '', '', '', '', '', '', '', '', '', 'These results suggest that KCNQ1DN existing far from the H19/IGF2 region may play some role in Wilms\' tumorigenesis along with IGF2.. '), ('7252', 'MCPH6_MCPH1', '1p32.3 / ', 'MCPH6', 'MCPH1', '19215732', '18', '', '', '', '', '', '', '', '', '', 'MCPH is genetically heterogeneous with six known loci: MCPH1-MCPH6. '), ('7253', 'TNNT3_TNNI2', '9p13.2 / 11p15.5 / ', 'TNNT3', 'TNNI2', '17380469', '18', 'arthrogryposis', '', '', '', '', '', '', '', '', 'These included TPM2, TNNI2/TNNT3, and MYH3/MYH8. '), ('7254', 'BP2_BP1', '16p11.2 / 16p13.3 / ', 'BP2', 'BP1', '24123946', '18', '', '', '', '', '', '', '', '', '', 'In this report, counseling issues and research opportunities are discussed, with the recurrent 15q11.2 BP1-BP2 (including CYFIP1, NIPA1, NIPA2, TUBGCP5) as an example. '), ('7255', 'MYOD1_KCNC1', '11p14-15.1 / ', 'MYOD1', 'KCNC1', '9445488', '18', 'retinal degeneration', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'The YAC contig is approximately 3.5 Mb and has located several other loci within this interval, resulting in the order CEN-LDHA-SAA1-TPH-D11S1310-(D11S1888/KCNC1 )-MYOD1-D11S902D11S921-D11S 1890-TEL. '), ('7256', 'SNAP91_PRSS35', '3p22.2 / ', 'SNAP91', 'PRSS35', '23092984', '18', '', '', '', '', '', '', '', '', '', 'The top associations were on chromosomes: 6q14.2 within the PRSS35/SNAP91 gene complex (rs1171113, P=9.67 ?? 10(-8)). '), ('7257', 'KCNQ1_KCNE1', '11p15.5 / ', 'KCNQ1', 'KCNE1', '12522251', '18', '', '', '', '', '', '', '', '', '', 'Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome.     ///    \"The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels. \"'), ('7258', 'peripherin_RDS', '17p13.3 / 17p13.1 / ', 'peripherin', 'RDS', '8571961', '18', 'retinitis pigmentosa', '', '', '', '', '', '', '', '', 'Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. '), ('7259', 'LIT1_DMR', '11p15.5 / ', 'LIT1', 'DMR', '15007390', '18', 'esophageal cancer\r\r', '', '', '', '', '', '', '', '', 'Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer..     ///    \"Furthermore, loss of CpG methylation was associated with loss of histone H3 lysine 9 (H3K9) methylation at DMR-LIT1. \"    ///    CDKN1C expression was diminished in 10 of 17 lines and statistically correlated with the loss of methylation at DMR-LIT1 in all but three.     ///    \"The data suggested that the diminished CDKN1C expression is associated with the loss of methylation of CpG and H3K9 at DMR-LIT1, not by its own promoter CpG methylation, and is involved in esophageal cancer, implying that DMR-LIT1 epigenetically regulates CDKN1C expression not through histone modifications at CDKN1C promoter, but through that of DMR-LIT1.. \"'), ('7260', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '15314640', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Maternal transmission of the deletions results in hypermethylation of the H19 DMR, biallelic IGF2 expression, H19 silencing and Beckwith-Wiedemann syndrome, indicative of loss of function of the IGF2-H19 imprinting control element.. '), ('7261', 'XIAP_XAF1', '6p24.3 / 17p13.3 / 2p13.3 / ', 'XIAP', 'XAF1', '24663488', '18', '', '', '', '', '', '', '', '', '', 'Based on the known biology of the XIAP/XAF1 apoptosis pathway and the differential expression patterns of XAF1 and XIAP in sarcoidosis granulomas, we suggest that this pathway may play a role in the maintenance of sarcoidosis granulomas. '), ('7262', 'CREB_ATF', '', 'CREB', 'ATF', '18982425', '18', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' CREB3L4 (cAMP response element binding protein3 like 4) belongs to mammalian CREB/ATF subfamily transcription factors featuring a unique putative transmembrane domain lined to the bZIP region in their C-terminals. '), ('7263', 'NPM1_FLT3', 't(7;11)(p15;p15) / ', 'NPM1', 'FLT3', '20368469', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A scoring system incorporating WT1 mutation, NPM1/FLT3-ITD, CEBPA mutations, and age into survival analysis proved to be very useful to stratify CN-AML patients into different prognostic groups (P < .001). '), ('7264', 'TAP_CLN3', '16p12.1 / ', 'TAP', 'CLN3', '23464991', '18', 'Juvenile neuronal ceroid lipofuscinosis;neuronal ceroid lipofuscinosis', '', '', '', '', '', '', '', '', 'Human SH-SY5Y-NTAP-CLN3 stable cells were used to isolate native protein complexes for subsequent TAP-MS. '), ('7265', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '23589792', '18', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Since APL is a medical emergency and an accurate diagnosis is a prerequisite for prompt treatment, laboratory support to implement faster diagnostic tools to confirm the presence of PML-RARA is required.. '), ('7266', 'RGS_GAIP', '19p13.1 / ', 'RGS', 'GAIP', '11836570', '18', 'rectal tumors', 'PCR', '', '', '', '', '', '', '', ' PDZ-domain protein GIPC1/GIPC interacts with GTPase-activating protein RGS-GAIP, TGFbeta type III receptor, and integrin alpha6A subunit. '), ('7267', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '21622582', '18', 'lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The TERT-CLPTM1L locus for lung cancer predisposes to bronchial obstruction and emphysema.. '), ('7268', 'P15_ANRIL', '5p15.33 / ', 'P15', 'ANRIL', '22899653', '18', 'squamous cell carcinoma;lung cancer\r\r', '', '', '', '', '', '', '', '', 'Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16(INK4A)/p14(ARF)/CDKN2B/p15(INK4B)/ANRIL. '), ('7269', 'ACTB_AML1', 't(12;21)(p13;q22) / ', 'ACTB', 'AML1', '11289124', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'In conclusion, real-time quantification of TEL-AML1/beta-actin kinetics distinguishes distinct molecular response groups, and provides indications capable of directing therapeutic interventions for patients with TEL-AML1+ ALL.     ///    \"In relapsed ALL, TEL-AML1/beta-actin decrease was generally less pronounced at corresponding time points, and conversion to TEL-AML1 negativity was observed in 40% of patients. \"    ///    \"In initial ALL, TEL-AML1/beta-actin decrease was > or =10(5)-fold in 50% of patients after induction therapy (day 33) and stayed TEL-AML1-negative throughout therapy, which suggested high sensitivity of leukemic cells to antineoplastic therapy. \"'), ('7270', 'RPN1_EVI1', 'p22;q23 / t(6;9)  / inv(3)  / ', 'RPN1', 'EVI1', '19860179', '18', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;polycythemia vera\r\r', '', '', '', '', '', '', 'KB', '', 'RPN1-EVI1 and AML (megakaryoblastic) with t(1. '), ('7271', 'TSC1_TSC', '16p13.3 / ', 'TSC1', 'TSC', '18830229', '18', 'tuberous sclerosis complex\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Here we investigate the effects of putative TSC1 missense mutations identified in individuals with signs and/or symptoms of TSC on TSC1-TSC2 complex formation and mTOR signalling. '), ('7272', 'ETO_AML1', 't(8;21)  / t(8;21)(q22;q22) / ', 'ETO', 'AML1', '25628765', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This translocation results in the production of the AML1/ETO (A/E) fusion protein and commonly involves cooperating activating mutations of RAS. '), ('7273', 'SR_IDS', 't(308)  / ', 'SR', 'IDS', '25462402', '18', '', '', '', '', '', '', '', '', '', 'HAM-D17 ? 10) were included within two comparable RCTs and were assessed at baseline with the Personality Diagnostic Questionnaire-4(+) (PDQ-4(+)), the Dysfunctional Attitude Scale Version-A (DAS-A), the Leiden Index of Depression Sensitivity (LEIDS), the Ruminative Response Scale (RRS), and the Inventory of Depressive Symptomatology-Self Report (IDS-SR). '), ('7274', 'KLRG1_A2M', '12p12.3 / ', 'KLRG1', 'A2M', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7275', 'IMMP2L_DOCK4', '', 'IMMP2L', 'DOCK4', '27081546', '18', '', '', '', '', '', '', '', '', 'Seq', 'A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family..     ///    \"Subsequently, whole-exome sequencing identified the breakpoint of the rearrangement, thereby confirming the existence of a fusion IMMP2L-DOCK4 gene. \"'), ('7276', 'UHMK1_NOS1AP', '2p23.3 / ', 'UHMK1', 'NOS1AP', '19451863', '18', '', '', 'Kinase', '', '', '', '', '', '', 'Of these, four contained or neighboured genes associated with schizophrenia (NOS1AP/UHMK1, ATF2, NSF and PIK3C3). '), ('7277', 'PAX3_DES', 'del (2)(q35q36) / del (2)(q33q35) / ', 'PAX3', 'DES', '8103404', '18', 'Waardenburg syndrome', '', '', '', '', '', '', '', '', 'A molecular analysis of a chromosome 2 deletional mapping panel maps the PAX3 locus to 2q35 and suggests the locus order: centromere-(INHA, DES)-PAX3-COL4A3-(ALPI, CHRND)-telomere. '), ('7278', 'CTNNB1_WT1', '1p36.2 / ', 'CTNNB1', 'WT1', '19530245', '18', 'nephroblastoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Based on characterization of both genomic and expression status of WT1 and CTNNB1 (beta-catenin) in a series of 60 Wilms tumor samples, combined with genome-wide expression profiling of these tumors, normal mature and fetal kidney controls, we show that WT1/beta-catenin expression was a better classifier than WT1/CTNNB1 mutations.     ///    By comparing the state of the WNT pathway in tumors without WT1/beta-catenin alterations and fetal kidneys we provide evidence that suggests that these tumors have a heightened level of pathway activation.     ///    \"We present molecular data supporting that the WNT pathway is involved in both tumor classes, with and without WT1/beta-catenin alterations. \"    ///    \"In the tumor class with WT1/beta-catenin alterations, we identified overexpression of 14 previously unreported WNT target genes, including TWIST1. \"'), ('7279', 'NPRL2_G21', '3p21.3 / ', 'NPRL2', 'G21', '18725949', '18', '', '', 'Kinase', '', '', '', '', '', '', 'Until now TSGs which were isolated from AP20 and LUCA regions (e.g.G21/NPRL2, RASSF1A, RASSF1C, SEMA3B, SEMA3F, RBSP3) were shown to inhibit tumour cell growth both in vitro and in vivo. '), ('7280', 'MS5_MS1', '11p15.5 / ', 'MS5', 'MS1', '20506113', '18', 'gastric cancer\r\r', '', '', '', '', '', '', '', '', 'MS1-MS5) were identified. '), ('7281', 'SRS _BWS', '11p15.5 / ', 'SRS ', 'BWS', '23086270', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Different methylation patterns in BWS/SRS cases clarified by MS-MLPA..     ///    \"We report four different methylation patterns along the BWS/SRS critical region, clarified by methylation-specific multiplex ligation-dependent probe amplification. \"'), ('7282', 'PGFL_KLRK1', '12p12.3 / ', 'PGFL', 'KLRK1', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7283', 'BCR_ABL1', '', 'BCR', 'ABL1', '23071469', '18', 'lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The e8a2 fusion transcript in B lymphoblastic leukemia with BCR-ABL1 rearrangement.. '), ('7284', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '8541832', '18', '', '', '', '', '', '', '', '', '', 'These data indicate that, at least in post-embryonic stages, L23MRP is functionally insulated from the IGF2/H19 imprinted domain..     ///    To map regional imprinting we have sought to isolate additional human genes close to IGF2/H19 and to characterize their allelic expression patterns. '), ('7285', 'RUNX1T1_RUNX1', 't(8;21) (q22;q22) / t(8;21)(q22;q22) / t(8;21) / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '19369623', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The AML1-ETO (RUNX1-RUNX1T1) fusion was demonstrated in all 10 cases assessed. '), ('7286', 'CYP21A2_CYP21A1P', '6p21.3 / ', 'CYP21A2', 'CYP21A1P', '20970527', '18', 'congenital adrenal hyperplasia', '', '', '', '', '', '', '', '', 'Possible causes of CYP21A1P/CYP21A2 formation are associated with 1) high recombination rate in the MHC locus, 2) high recombination rate between highly homologous genes and pseudogenes in the CYP21 gene area, and 3) the existence of chi-like sequences and repetitive minisatellite consensus sequences in CYP21A2 and CYP21A1P which play a role in promoting genetic recombination..     ///    Chimeric CYP21A1P/CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%).     ///    Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia..     ///    \"In this study, we describe chimeric CYP21A1P/CYP21A2 genes detected in our patients with 21-hydroxylase deficiency (21OHD). \"    ///    \"We detected four types of chimeric CYP21A1P/CYP21A2 genes: three of them have been described previously as CH-1, CH-3, CH-4, and one type is novel. \"'), ('7287', 'THY1_CD38', 'del(5q) / del(5q)  / ', 'THY1', 'CD38', '12070035', '18', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', '', '', 'However, since +8 is known to frequently be a late event in the MDS transformation process, it remained a possibility that CD34(+)CD38(-)Thy1(+) HSC disomic for chromosome 8 might be part of the MDS clone.     ///    \"Thus, CD34(+)CD38(-)Thy1(+) HSCs are invariably part of the MDS clone also in +8 patients, and little HSC activity can be recovered from the CD34(+) CD38(-)Thy1(+) HSC. \"    ///    \"In the present studies, although a variable fraction of CD34(+)CD38(-)Thy1(+) cells were disomic for chromosome 8, they did not possess normal HSC activity in long-term cultures and nonobese diabetic-severe combined immunodeficiency (NOD-SCID) mice. \"'), ('7288', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '19286999', '18', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM-ALK inhibits the p53 tumor suppressor pathway in an MDM2 and JNK-dependent manner.. '), ('7289', 'CCND1_G6PDH', 't(11;14)  / ', 'CCND1', 'G6PDH', '11485900', '18', 'myeloid leukemia;leukemia;B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As a result, cyclin D1/G6PDH ratio ranged from 0.78 to 12.4 (mean, 1.83) in MCL, exclusively higher than those in other B-cell lymphoma (0.00009 approximately 0.16) and myeloid leukemia (0.00011 approximately 0.085).     ///    \"The 95% confidence interval of the cyclin D1/G6PDH ratio was 0.29 approximately 11.1 for MCL, 0.014 approximately 0.25 for other B-cell lymphomas and 0.000014 approximately 0.083 for myeloid leukemia, suggesting that a cutoff value can be set at 0.25. \"');
INSERT INTO `ChimerPub_dump` VALUES ('7290', 'CAV2_CAV1', '12p11.22 / ', 'CAV2', 'CAV1', '25525164', '18', 'open-angle glaucoma', '', '', '', '', '', 'Transcription_Factor', '', '', 'The implication of the caveolin genes, CAV1/CAV2, as a common genetic factor influencing both IOP variations and POAG may provide new insights of the underlying mechanism leading to glaucoma and glaucomatous visual field loss..     ///    \"We successfully replicated the associations with GAS7 (P = 7.4 ?? 10(-3)) for IOP, and also identified a previously reported POAG locus in the CAV1/CAV2 region to be associated with IOP (P = 3.3 ?? 10(-3)). \"    ///    Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.. '), ('7291', 'CDKN2B_CDKN2A', '1p36.3 / 5p15.3 / ', 'CDKN2B', 'CDKN2A', '21281820', '18', 'mesothelioma\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Alteration of the 9p21 human region, often by biallelic deletion, was the most frequent alteration in both species, in agreement with the CDKN2A/CDKN2B locus deletion in human disease and murine models. '), ('7292', 'KLRB1_CD69', '12p12.3 / ', 'KLRB1', 'CD69', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7293', 'SAPK_JNK', '', 'SAPK', 'JNK', '25494542', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition to cytoskeletal rearrangements orchestrated by RhoA, we showed that ARHGEF3/RhoA-dependent signals involve activation of SAPK/JNK and then Elk1 transcription factor.     ///    \"Moreover, ARHGEF3 silencing prevented RhoA activation leading to a reduction in SAPK/JNK phosphorylation, Elk1 activation and CD68 expression, suggesting a crucial role for ARHGEF3 in myeloid differentiation. \"'), ('7294', 'IGF2_IG', '11p15.5 / ', 'IGF2', 'IG', '26691664', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'We now describe two further MZ SRS twins with H19/IGF2:IG-DMR hypomethylation, including the first clinically concordant pair. '), ('7295', 'IDI2_IDI1', '10p15.3 / ', 'IDI2', 'IDI1', '20955688', '18', 'sclerosis\r\r', '', '', '', '', '', '', '', '', 'A segmental copy-number gain in the IDI1/IDI2 gene region may play a significant role in the pathogenesis of SALS.. '), ('7296', 'P23_P22', '17p13.1 / ', 'P23', 'P22', '20886556', '18', 'hepatocellular carcinoma;hepatocellular carcinoma\r\r', '', '', '', '', '', '', '', '', 'LOH was examined using 34 microsatellite markers located on 4q13-3q5, 6q27, 8p22-p23, 9p21-p22, and 17p12-p13. '), ('7297', 'PAX1_FOXA2', '7p21.1 / ', 'PAX1', 'FOXA2', '22032556', '18', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Numerous studies have unequivocally identified two major genetic risk loci for AGA: the X-chromosomal AR/EDA2R locus, and the PAX1/FOXA2 locus on chromosome 20. '), ('7298', 'LCE3C_LCE3B', '8p23.1 / ', 'LCE3C', 'LCE3B', '20016497', '18', 'psoriasis\r\r', '', '', '', '', '', '', '', '', 'Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors.. '), ('7299', 'RING1_HLA-DPB1', '6p21.3 / ', 'RING1', 'HLA-DPB1', '17967832', '18', 'lung disease', '', '', '', '', '', '', '', '', 'The HLA-DPB1/RING1 region is strongly associated with WG in ANCA-positive subjects. '), ('7300', 'P21_P14', '8p23.1 / ', 'P21', 'P14', '11078815', '18', '', '', '', '', '', '', '', '', '', 'Of the 335 informative markers, 83 loci showed high level of LOH (presence in equal to or more than 30% cases) and most of the high frequent loci were clustered to chromosome 1p36 and 1p34, 3p14-p21, 3p24-p26, 3q25-q26 and 3q27, 4q31 and 4q35, 5q15-21 and 5q32-q33, 8p22-p23, 9p21-p23 and 9q33-q34, 11p12-p14, 13q14-q13 and 13q31-q32, 14q13-q11, 14q24-q23 and 14q32. '), ('7301', 'NPSR_NPS', 't(10)  / ', 'NPSR', 'NPS', '16720571', '18', '', '', '', '', '', '', '', '', '', 'The NPS-NPSR receptor system regulates important biological functions such as sleeping/wakening, locomotion, anxiety, and food intake. '), ('7302', 'RNF24_PANK2', '3p22.2 / ', 'RNF24', 'PANK2', '22058429', '18', 'glaucoma', '', 'Kinase', '', '', '', '', '', '', 'This study identified new linkage regions at 20p13 (SIRPA and RNF24/PANK2 loci) and 2q33-q34 (IGFBP2 locus) for parameters describing morphology of the optic disc.     ///    \"For parameters describing morphology of the optic disc, the study obtained significant linkage signal (LOD=4.6) at regions SIRPA and RNF24/PANK2 at 20p13 (false discovery rate (FDR) based q value <0.05) and genome-wide significant association (p=2.38??10(-9)) with a common variant in the RERE gene at 1p36. \"'), ('7303', 'WAGRO_WAGR', 'del (11)  / 13p14.2 / ', 'WAGRO', 'WAGR', '16545979', '18', 'aniridia;nephroblastoma', '', '', '', '', '', '', '', '', 'In summary, we report the first patient with the exceptional rare findings of both SSADH deficiency and partial WAGR/WAGRO syndrome.. '), ('7304', 'P19_P18', '19p13.2 / ', 'P19', 'P18', '8741839', '18', '', '', '', '', '', '', '', '', '', 'Binary cyclin D1-p18/p19 or cyclin D1-CDK6 complexes are highly stable and cannot be dissociated by excess amounts of cyclin D1 or p19/p18 proteins, suggesting that p16 inhibitors and D cyclins may interact with CDKs 4 and 6 in a competing or potentially mutually exclusive manner.. '), ('7305', 'MYH8_MYH3', '9p13.2 / 11p15.5 / ', 'MYH8', 'MYH3', '17380469', '18', 'arthrogryposis', '', '', '', '', '', '', '', '', 'These included TPM2, TNNI2/TNNT3, and MYH3/MYH8. '), ('7306', 'RBX1_EP300', '20p12.1 / 6p21.3 / ', 'RBX1', 'EP300', '22936669', '18', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'A genome-wide association study on a southern European population identifies a new Crohn\'s disease susceptibility locus at RBX1-EP300.. '), ('7307', 'P85_FGFR3', 't(4;14)  / ', 'P85', 'FGFR3', '19286672', '18', 'multiple myeloma\r\r', '', 'Kinase', '', '', '', '', '', '', 'These data suggest that an endogenous negative regulatory role for the p85-FGFR3 interaction on the Ras/ERK/MAPK pathway may exist in response to FGFR3 activity and identifies a novel therapeutic target for MM..     ///    \"In contrast to the Gab1-mediated association of FGFRs with p85, the FGFR3-p85 interaction we observed requires FGFR3 Y760, previously identified as a PLCgamma binding site. \"'), ('7308', 'APOE_APOC1', '6p12.3 / ', 'APOE', 'APOC1', '20442857', '18', '', '', '', '', '', '', '', '', '', 'For Lp-PLA(2) activity, polymorphisms at four independent loci reached genome-wide significance, including the APOE/APOC1 region on chromosome 19 (p = 6 x 10(-24)). '), ('7309', 'MAGI1_ADAMTS9', '3p14.1 / ', 'MAGI1', 'ADAMTS9', '25990289', '18', 'arthritis;psoriasis;arthritis\r\r', '', '', '', '', '', '', '', '', 'Using the independent patient and control cohort, we validated the association between ADAMTS9-MAGI1 deletion and PsA risk (p=0.032).     ///    A deletion at ADAMTS9-MAGI1 locus is associated with psoriatic arthritis risk.. '), ('7310', 'PTH_BPA', 't(441) / t(425)  / ', 'PTH', 'BPA', '11553625', '18', '', '', '', '', '', '', '', '', '', 'The functional effect of the M425L mutation was specific for Bpa(2)-containing analogs, as inverse agonism of Bpa(2)-PTH-(1-34) was similarly eliminated, whereas inverse agonism of [Leu(11),d-Trp(12)]PTHrP-(5-36) was not affected. '), ('7311', 'RAR_PL', 't(8;21)  / ', 'RAR', 'PL', '10715300', '18', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'No differences were found regarding age, sex, WBC and platelet counts, incidence of coagulopathy, hemoglobin and fibrinogen levels, promyelocytic leukemia/retinoic acid receptor (PML/RAR) alpha fusion type, or complete remission (CR) rate in the comparison of the CD56(+) and CD56(-) populations. '), ('7312', 'IL1RN_IL1F10', '1p31.1 / ', 'IL1RN', 'IL1F10', '26089329', '18', '', '', '', '', '', '', '', '', '', 'Nominal associations (P<10(-6)) for total or ischemic stroke were observed for 18 variants in or near genes implicated in cell cycle/mRNA presplicing (PTPRG, CDC5L), platelet function (HPS4), blood-brain barrier permeability (CLDN17), immune response (ELTD1, WDFY4, and IL1F10-IL1RN), and histone modification (HDAC9). '), ('7313', 'P57_CDKN1C', '11p15.5 / ', 'P57', 'CDKN1C', '17259293', '18', 'Beckwith Wiedemann syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'This condition could mimic the effect of CDKN1C/p57 inactivation, causing the omphalocoele.     ///    Genotype-phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. '), ('7314', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '22893025', '18', 'skin cancer', '', '', '', '', '', 'Transcription_Factor', '', '', 'Association between TERT-CLPTM1L rs401681[C] allele and NMSC cancer risk: a meta-analysis including 45,184 subjects.. '), ('7315', 'HSC_CD38', 'del(5q) / del(5q)  / ', 'HSC', 'CD38', '12070035', '18', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', '', '', 'Finally, in advanced cases of MDS, the MDS reconstituting activity is exclusively derived from the minor CD34(+)CD38(-) HSC population, demonstrating that MDS stem cells have a similar phenotype as normal HSCs, potentially complicating the development of autologous transplantation for MDS.. '), ('7316', 'MUM1_IRF4', 't(11;14)  / ', 'MUM1', 'IRF4', '26034867', '18', 'B cell lymphoma;mantle cell lymphoma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Our data suggest that clinical presentation on the leg and blastoid cytology along with high proliferation and expression of Bcl2, Mum-1/IRF4, and IgM are typical for MCL involving the skin.     ///    \"Moreover, the immunophenotype with expression of BCL2 (100%), MUM-1/IRF4 (83%), and IgM (82%) and lack of CD10 (25%) and BCL6 (0%) closely resembled the features of primary cutaneous diffuse large B-cell lymphoma, leg type. \"'), ('7317', 'BCR_ABL1', '16p11.2 / ', 'BCR', 'ABL1', '21156236', '18', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Early molecular response (EMR), defined as >50% reduction in the ratio of BCR-ABL1 to ABL1 within 6 months after dose escalation, was a major endpoint for analysis.     ///    GSTT1 copy number gain was related to short time to treatment failure (TTFx) in patients without BCR-ABL1 mutations (P = 0.007). '), ('7318', 'DR3_DQ2', '6p21.3 / ', 'DR3', 'DQ2', '12021142', '18', 'diabetes;infectious diseases', '', '', '', '', '', '', '', '', 'HLA-DQ8/DR4 and DQ2/DR3 have shown positive association with IDDM, while DQ6 has negative association with IDDM in most Caucasian populations. '), ('7319', 'CCND1_CDK6', '19p13.2 / ', 'CCND1', 'CDK6', '8741839', '18', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Binary cyclin D1-p18/p19 or cyclin D1-CDK6 complexes are highly stable and cannot be dissociated by excess amounts of cyclin D1 or p19/p18 proteins, suggesting that p16 inhibitors and D cyclins may interact with CDKs 4 and 6 in a competing or potentially mutually exclusive manner.. '), ('7320', 'MUC6_MS5', '11p15.5 / ', 'MUC6', 'MS5', '20506113', '18', 'gastric cancer\r\r', '', '', '', '', '', '', '', '', 'To investigate the function of minisatellite alleles of MUC6-MS5, we examined the effects on gene expression from luciferase reporters when inserted with minisatellites.     ///    \"A significant association (odds ratio [OR]=7.08) between short rare MUC6-MS5 alleles and relative risks were observed for gastric cancer (95% confidence interval [CI], 1.43-35.19. \"    ///    \"Therefore, we suggest that the short rare MUC6-MS5 alleles may be related to cancer development by the regulation of MUC6 expression.. \"'), ('7321', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '24327541', '18', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Here we report an additional five breakpoint junction sequences from t-AML patients with the RUNX1- RUNX1T1 translocation.     ///    \"however, the mechanism is not well understood and to date a single RUNX1-RUNX1T1 t-AML breakpoint junction sequence has been published. \"'), ('7322', 'MEK_ERK', 't(4;14) / ', 'MEK', 'ERK', '17785202', '18', '', '', '', '', '', '', '', '', '', 'FGFR3 activates RSK2 to mediate hematopoietic transformation through tyrosine phosphorylation of RSK2 and activation of the MEK/ERK pathway.. '), ('7323', 'IDDM15_IDDM1', '6p21.3 / ', 'IDDM15', 'IDDM1', '9662408', '18', 'diabetes\r\r', '', '', '', '', '', '', '', '', 'Previous genome screens and studies focused on candidate genes have provided evidence for genetic linkage between polymorphic DNA markers and 15 putative IDDM susceptibility loci, designated IDDM1-IDDM15. '), ('7324', 'SLIT2_ROBO1', '4p16.2 / 4p15.31 / 4p15.2 / ', 'SLIT2', 'ROBO1', '17609981', '18', 'cervical cancer;cervical intraepithelial neoplasia', '', '', '', '', '', '', '', '', 'Thus, it indicates that inactivation of SLIT2-ROBO1 signaling pathway may have an important role in CA-CX development.. '), ('7325', 'PHA_IL2', 't(14;18) / ', 'PHA', 'IL2', '10087947', '18', 'chronic lymphocytic leukemia;non Hodgkin lymphoma;leukemia;lymphoma;lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'PHA/IL2: an efficient mitogen cocktail for cytogenetic studies of non-Hodgkin lymphoma and chronic lymphocytic leukemia..     ///    \"We report the results of a selected series of 57 patients with non-Hodgkin lymphoma (NHL) or chronic lymphocytic leukemia (CLL), in which only the culture stimulated with PHA/IL2 demonstrated the presence of an abnormal clone. \"'), ('7326', 'PDGFRA_KIT', '9p21.3 / ', 'PDGFRA', 'KIT', '19585585', '18', 'gastrointestinal stromal tumor\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Although all 21 mutant GISTs exhibited multiple copy number aberrations, notably losses, eight of the 10 KIT/PDGFRA mutation-negative GISTs exhibited few or no genomic alterations.     ///    \"Using genome-wide DNA arrays, we investigated genomic imbalances in a set of 31 GISTs, including 10 KIT/PDGFRA mutation-negative tumors from nine adults and one pediatric case and 21 mutant tumors. \"'), ('7327', 'RIZ_PRDM1', '1p36.13 / ', 'RIZ', 'PRDM1', '10862032', '18', 'hepatocellular carcinoma;hepatocellular carcinoma\r\r', '', '', '', '', '', '', '', '', 'This chromosomal region contains a candidate HCC suppressor gene, RIZ (PRDM2), that is a member of the PR (PRDI-BF1-RIZ homology)-domain-containing zinc finger gene family. '), ('7328', 'IL1RN_IL1B', '6p21.3 / ', 'IL1RN', 'IL1B', '14594133', '18', 'primary biliary cirrhosis', '', '', '', '', '', '', '', '', 'HLA DRBI*08 haplotypes, CTLA4* G and IL1RN-IL1B haplotypes, CASP8, and nramp1. '), ('7329', 'TBX5_TBX3', '3p22.2 / ', 'TBX5', 'TBX3', '20062060', '18', '', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Six of the loci were near cardiac developmental genes, including CAV1-CAV2, NKX2-5 (CSX1), SOX5, WNT11, MEIS1, and TBX5-TBX3, providing pathophysiologically interesting candidate genes. '), ('7330', 'NADSYN1_DHCR7', '11p15.2 / ', 'NADSYN1', 'DHCR7', '20418485', '18', 'rickets', '', '', '', '', '', '', '', '', 'We genotyped SNPs in these four regions in 2221 additional samples and confirmed strong genome-wide significant associations with 25(OH)D through meta-analysis with the GWAS data for GC (P=1.8x10(-49)), NADSYN1/DHCR7 (P=3.4x10(-9)) and CYP2R1 (P=2.9x10(-17)), but not C10orf88 (P=2.4x10(-5)).. '), ('7331', 'TCC_HSP', '1p13.2 / ', 'TCC', 'HSP', '21440262', '18', 'autosomal dominant polycystic kidney;Hereditary spastic paraplegia', '', '', '', '', '', '', '', '', 'SPG11, the most frequent gene associated with HSP-TCC, encodes spatacsin, a protein of unknown function. '), ('7332', 'P13_P11', 'del(2)  / ', 'P13', 'P11', '8411037', '18', '', '', '', '', '', '', '', '', '', 'Deletion of chromosome 2 (p11-p13): case report and review.. '), ('7333', 'TNFA_IFNG', '8p23.1 / ', 'TNFA', 'IFNG', '20445567', '18', '', '', '', '', '', '', '', '', '', 'Costimulation of NHEKs with TNF-alpha/IFN-gamma leads to a synergistic increase in total DEFB4 expression and suppresses VSE. '), ('7334', 'SRS11_BWS', '11p15.5 / ', 'SRS11', 'BWS', '24934635', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'We investigated whether common variation in copy number in the BWS/SRS 11p15 region or altered methylation levels at IGF2/H19 ICR or KCNQ10T1 ICR was associated with SGA.     ///    Copy number variation within the 11p15 BWS/SRS region is not an important cause of non-syndromic SGA at term.. '), ('7335', 'RAR_NPM', 't(5;17)(q35;q21) / ', 'RAR', 'NPM', '24183235', '18', '', '', '', '', '', '', '', '', '', 'Interaction with RXR is necessary for NPM-RAR-induced myeloid differentiation blockade..     ///    \"To determine the biological significance of NPM-RAR/RXR interaction, we developed two mutants of NPM-RAR that showed markedly diminished ability to bind RXR. \"    ///    These results support the hypothesis that RXR interaction is necessary for NPM-RAR-mediated myeloid maturation arrest.     ///    \"U937 subclones expressing the NPM-RAR mutants showed significantly less inhibition of vitamin D3/TGFbeta-induced differentiation, compared with NPM-RAR. \"    ///    We have previously shown that NPM-RAR is capable of binding to DNA either as a homodimer or heterodimer with RXR. '), ('7336', 'CALC2_CALC1', '11p15.1 / ', 'CALC2', 'CALC1', '3028933', '18', 'aniridia\r\r', '', '', '', '', '', '', '', '', 'calcitonin/CGRP (CALC1/CALC2). '), ('7337', 'RUNX1_ETV6', '3p14.2 / ', 'RUNX1', 'ETV6', '24241490', '18', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Within this cohort of patients with relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia, the largest analyzed for genome wide DNA copy number alterations to date, alterations were present in every ETV6/RUNX1-positive relapse and a high proportion of them occurred in recurrent overlapping chromosomal regions.     ///     The clinical heterogeneity among first relapses of childhood ETV6/RUNX1-positive acute lymphoblastic leukemia indicates that further genetic alterations in leukemic cells might affect the course of salvage therapy and be of prognostic relevance.     ///    Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia..     ///    \"To assess the incidence and prognostic relevance of additional copy number alterations at relapse of the disease, we performed whole genome array comparative genomic hybridization of leukemic cell DNA from 51 patients with first ETV6/RUNX1-positive relapse enrolled in and treated according to the relapse trials ALL-REZ of the Berlin-Frankfurt-M?nster Study Group. \"    ///    \"Loss of the glucocorticoid receptor gene NR3C1 (5q31.3) was associated with a poor response to induction treatment (P=0.003), possibly accounting for the adverse prognosis of some of the ETV6/RUNX1-positive relapses. \"'), ('7338', 'NRAS_CSDE1', '1p13.2 / ', 'NRAS', 'CSDE1', '24189344', '18', '', '', '', 'Oncogene', '', '', '', '', '', 'Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism. '), ('7339', 'COL4A3_ALPI', 'del (2)(q35q36) / del (2)(q33q35) / ', 'COL4A3', 'ALPI', '8103404', '18', 'Waardenburg syndrome', '', '', '', '', '', '', '', '', 'A molecular analysis of a chromosome 2 deletional mapping panel maps the PAX3 locus to 2q35 and suggests the locus order: centromere-(INHA, DES)-PAX3-COL4A3-(ALPI, CHRND)-telomere. '), ('7340', 'JUNB_CD30', 't(2;5)(p23;q35) / ', 'JUNB', 'CD30', '25145835', '18', 'anaplastic large cell lymphoma;lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The oncogenic JUNB/CD30 axis contributes to cell cycle deregulation in ALK+ anaplastic large cell lymphoma..     ///    Our findings uncover the oncogenic role of the JUNB/CD30 axis and its potential as therapeutic target in ALK+ ALCL. '), ('7341', 'MALT1_API2', 't(11;18)(q21;q21) / ', 'MALT1', 'API2', '26185372', '18', 'MALT lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'pylori-negative gastric MALT lymphomas, and such translocation results in the synthesis of fusion protein API2-MALT1, which causes canonical and noncanonical NF-?B activation. '), ('7342', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '24934635', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'We used a methylation-specific multiplex-ligation-dependent probe amplification assay to analyse copy number variation in the 11p15 region and methylation of IGF2/H19 and KCNQ10T1 ICRs in blood samples from 153 children (including 80 SGA), as well as bisulfite pyrosequencing to measure methylation at IGF2 differentially methylated region (DMR)0 and H19 DMR. '), ('7343', 'P15_CDK4', '1p36.23 / 17p13.3 / 17p13.1 / ', 'P15', 'CDK4', '19435819', '18', 'glioblastoma multiforme\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Either the p16(INK4A)/p15(INK4B)-CDK4/6-pRb or p14(ARF)-MDM2/4-p53 pathways were abnormal in 89% (49 of 55) of cases. '), ('7344', 'TSC2_TSC1', '16p13.3 / ', 'TSC2', 'TSC1', '19747374', '18', 'tuberous sclerosis complex\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Our results suggest that amino acid residues within the N-terminal region of TSC1 are important for TSC1 function and for maintaining the activity of the TSC1-TSC2 complex.. '), ('7345', 'COL1A2_COL1A1', '3p22-24.1 / ', 'COL1A2', 'COL1A1', '12110407', '18', 'osteogenesis imperfecta', '', '', '', '', '', '', '', 'Seq', 'Mutation screening of the COL1A1/COL1A2 genes revealed no detectable mutations, and type I collagen protein analyses were also normal. '), ('7346', 'LIT1_DMR', '11p15.5 / ', 'LIT1', 'DMR', '23803580', '18', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'In this study, the efficacy of the MS pyrosequencing method at H19-DMR and LIT1-DMR at 11p15 and SGCE-DMR at 7q21 was evaluated for the genetic diagnosis of BWS (n=18) and SRS (n=20) patients.     ///    \"Thirteen BWS patients (72%) harbored loss-of-methylation (LOM) at LIT1-DMR and two patients (11%) harbored gain-of-methylation (GOM) at H19-DMR, whereas two patients (11%) had both LOM at LIT1-DMR and GOM at H19-DMR, reflecting paternal UPD 11. \"    ///    Birth anthropometric profiles were significantly correlated to methylation scores at either H19-DMR or LIT1-DMR. '), ('7347', 'MCCC1_LAMP3', 'Chr3p24) / Chr5q31.1 / 9p13.3 / Chr4q21; / Chr1q32.1 / Chr4p15; / Chr2q24.3 / Chr12q12; / Chr1q21; / ', 'MCCC1', 'LAMP3', '21812969', '18', 'parkinson disease\r\r', '', '', '', '', '', '', '', '', 'In a recent meta-analysis of datasets from five of the published PD GWAS an additional 6 novel candidate genes (SYT11, ACMSD, STK39, MCCC1/LAMP3, GAK and CCDC62/HIP1R) were identified. '), ('7348', 'NKG2E_KLRC4', '12p12.3 / ', 'NKG2E', 'KLRC4', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7349', 'NKG2A_KLRC3', '12p12.3 / ', 'NKG2A', 'KLRC3', '10783260', '18', '', '', '', '', '', '', '', '', '', 'We established the order of the genes as tel-M6PR-MAFAL (HGMW-approved symbol KLRG1)-A2M-PZP-A2MP-NKRP1A (HGMW-approved symbol KLRB1)-CD69-AICL (HGMW-approved symbol CLECSF2)-KLRF1-OLR1-CD94 (HGMW-approved symbol KLRD1)-NKG2D (HGMW-approved symbol D12S2489E)-PGFL-NKG2F (HGMW-approved symbol KLRC4)-NKG2E (HGMW-approved symbol KLRC3)-NKG2A (HGMW-approved symbol KLRC1)-LY49L (HGMW-approved symbol KLRA1)-cen. '), ('7350', 'PTD_KMT2A', 't(8;21) / inv(16) / ', 'PTD', 'KMT2A', '26684393', '18', '', '', '', 'Oncogene', '', '', '', '', '', 'High PRDM16 expression identifies a prognostic subgroup of pediatric acute myeloid leukaemia correlated to FLT3-ITD, KMT2A-PTD, and NUP98-NSD1: the results of the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 trial.. '), ('7351', 'GOPC_ROS1', '', 'GOPC', 'ROS1', '23052255', '17', 'lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'RACE isolated a GOPC-ROS1 (FIG-ROS1) fusion in the former and a KIF5B-RET fusion in the latter, both confirmed by RT-PCR.    ///    We also report in lung cancer the GOPC-ROS1 fusion originally discovered and characterized in a glioma cell line..     ///    \"RACE isolated a GOPC-ROS1 (FIG-ROS1) fusion in the former and a KIF5B-RET fusion in the latter, both confirmed by RT-PCR. \"    ///    Identification of KIF5B-RET and GOPC-ROS1 fusions in lung adenocarcinomas through a comprehensive mRNA-based screen for tyrosine kinase fusions.. '), ('7352', 'RET_PTC3', '', 'RET', 'PTC3', '21498916', '17', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '42/266 (15.8%) RET/PTC1 and 13/266 (4.9%) RET/PTC3). '), ('7353', 'RET_PTC3', '', 'RET', 'PTC3', '20703476', '17', 'thyroid nodule\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Overall, 50 mutations were identified (23 BRAF, 4 RET/PTC1, 2 RET/PTC3, 21 NRAS) in the thyroid FNA biopsies. '), ('7354', 'PAX3_NCOA2', '', 'PAX3', 'NCOA2', '24213582', '17', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'To understand the role of this translocation in RMS tumorigenesis, we established two types of stable mouse myoblast C2C12 cell lines expressing PAX3-NCOA2 and PAX3-FOXO1A (forkhead box O1A), respectively.    ///    \"Compared with control cells, PAX3-NCOA2 cells grew faster, were more motile, were less anchorage dependent, progressed more quickly through the G1/S phase of cell cycle and showed greater transcriptional activation of the PAX3 consensus-binding site.\"'), ('7355', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '21572435', '17', 'prostate cancer;adenocarcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Truncated ETV1 encoded by prostate cancer translocation TMPRSS2:ETV1 lacks the critical COP1 binding motifs and was 50-fold more stable than wild-type ETV1.    ///    Truncated ETV1 encoded by prostate cancer translocation TMPRSS2:ETV1 lacks the critical COP1 binding motifs and was 50-fold more stable than wild-type ETV1. '), ('7356', 'ROS1_FIG', '', 'ROS1', 'FIG', '25231053', '17', 'cholangiocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The specificity and sensitivity of nested PCR were investigated in FIG-ROS1 positive U118MG cells in reconstitution experiments with peripheral blood mononuclear cells.     ///    \"In conclusion, 14-16% of GBC and ECC were positive for FIG-ROS1. \"    ///    \"Formalin-fixed, paraffin-embedded tissues, derived from 65 Italian BTC patients, and six cell lines were analyzed by nested PCR to investigate the prevalence of a previously reported FIG-ROS1 fusion. \"    ///    \"We found that six out of 65 (9%) BTC patients were positive for the FIG-ROS1 fusion, comprising two out of 14 (14%) gallbladder carcinoma (GBC) patients and four out of 25 (16%) extrahepatic cholangiocarcinoma (ECC) patients. \"    ///    \"We developed a new, quick, specific, and sensitive PCR test to screen for the FIG-ROS1 fusion and applied it to a series of Italian patients with bile duct carcinoma (BTC). \"    ///    None of the 26 intrahepatic cholangiocarcinoma cases harbored the FIG-ROS1 fusion.     ///    Screening for the FIG-ROS1 fusion in biliary tract carcinomas by nested PCR.. '), ('7357', 'OCT4_OCT3', '1p36.11 / ', 'OCT4', 'OCT3', '15942670', '17', 'bladder cancer;esophageal cancer;Kaposi\'s sarcoma', '', '', '', '', '', '', '', '', 'Fgf4 mRNA is expressed in embryonic stem (ES) cells depending on Sox2 and Pou5f1 (Oct3/Oct4) transcription factors, and in myotomes and limb bud AER depending on MyoD (or Myf5) and GATA transcription factors. '), ('7358', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '12379751', '17', 'B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The CD5+ neoplastic large B-cells expressed bcl-6 and MUM1/IRF4 but not CD138 by immunohistochemistry. '), ('7359', 'RET_PTC', '', 'RET', 'PTC', '22654872', '17', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC Translocations and Clinico-Pathological Features in Human Papillary Thyroid Carcinoma..     ///    \"Up to now, 13 different types of RET/PTC rearrangements have been reported but the two most common are RET/PTC1 and RET/PTC3. \"    ///    \"Recently, a diagnostic role of RET/PTC rearrangements has been proposed. \"    ///    The overall prevalence of RET/PTC rearrangements varies from 20 to 70% of PTCs and they are more frequent in childhood than in adulthood thyroid cancer.     ///    \"Ionizing radiations are responsible for the generation of RET/PTC rearrangements, as supported by in vitro studies and by the evidence that RET/PTC, and particularly RET/PTC3, are highly prevalent in radiation induced PTC. \"    ///    \"In contrast, RET/PTC1 rearrangement does not correlate with any clinical-pathological characteristics of PTC. \"    ///    \"The first RET rearrangement, named RET/PTC, was discovered in 1987. \"    ///    Controversial data have been reported on the relationship between RET/PTC rearrangements and the PTC prognosis.     ///    \"Moreover, the RET protein and mRNA expression level did not show any correlation with the outcome of patients with PTC and no correlation between RET/PTC rearrangements and the expression level of the thyroid differentiation genes was observed. \"'), ('7360', 'AE3_AE1', '', 'AE3', 'AE1', '10685645', '17', 'interstitial pneumonia', 'PCR', '', '', '', '', '', '', '', 'Sections of the thymic lesion and of a lung biopsy performed at the same operation were examined histologically and by immunohistochemistry using the monoclonal antibodies CD45, CD20, CD79a, CD3, CD45RO, and AE1/AE3. '), ('7361', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '18794369', '17', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'However, apart from the identification of some IGF2 antisense transcripts, few data are available on that topic at the H19/IGF2 locus.     ///    We identify here a novel transcriptional activity at both the human and the mouse H19/IGF2 imprinted loci. '), ('7362', 'RAB38_CTSC', '6p21.3 / ', 'RAB38', 'CTSC', '24943344', '17', 'frontotemporal dementia;motor neuron disease;semantic dementia', '', '', '', '', '', '', '', '', 'We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2?44?????10(-7). '), ('7363', 'CD4_CD3', '', 'CD4', 'CD3', '12455048', '17', 'lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'The remaining 5 specimens were CD3(+)/CD4(-)/CD8(-). '), ('7364', 'TATDN1_GSDMB', '', 'TATDN1', 'GSDMB', '21247443', '17', 'leukemia;breast cancer\r\r', '', '', '', '', '', '', '', '', 'Some of the fusion partner genes, such as GSDMB in the TATDN1-GSDMB fusion and IKZF3 in the VAPB-IKZF3 fusion, were only detected as a fusion transcript, indicating activation of a dormant gene by the fusion event. '), ('7365', 'RET_PTC', '', 'RET', 'PTC', '19884740', '17', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Prevalence of RET/PTC expression in papillary thyroid carcinoma and its correlation with prognostic factors in a north Indian population..     ///    \"However, uniform techniques of detection and large international collaborative studies could clear the uncertainties regarding the prognostic importance of RET/PTC.. \"    ///    \"However, the exact clinical significance of RET/PTC positive histiocytes remained unexplained. \"    ///    The aim of this study was to recognize the prevalence of RET/PTC expression in PTC from the endemically iodine-deficient region in Northern India and to correlate the expression with the clinicopathologic prognostic factors.     ///    Prevalence of RET/PTC in our study was consistent with the reported prevalence from other geographic areas. '), ('7366', 'TTF1_NKX2-1', '', 'TTF1', 'NKX2-1', '23763999', '17', 'adenocarcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In T?cell acute lymphoblastic leukemia, gene rearrangements lead to aberrant expression of NKX2-1/TTF-1.     ///    \"Despite accumulating evidence supporting its oncogenic role, it has become apparent that NKX2-1/TTF-1 expression also has biological and clinical functions in the opposite direction that act against tumor progression. \"    ///    NKX2-1/TTF-1: an enigmatic oncogene that functions as a double-edged sword for cancer cell survival and progression..     ///    \"Herein, we review recent findings showing these enigmatic double-edged characteristics, with special attention given to the roles of NKX2-1/TTF-1 in lung development and carcinogenesis.. \"'), ('7367', 'IGH_BCL2', '', 'IGH', 'BCL2', '16929787', '17', 'lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bcl-2/IgH and Bcl1/IgH traslocations were also analyzed for follicular and mantle cells lymphomas respectively. '), ('7368', 'BCL6_BCL11A', '2p16.1 / ', 'BCL6', 'BCL11A', '16704730', '17', 'hematopoietic malignancy\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Although BCL11A-XL/BCL6 interaction can modulate BCL6 DNA binding in vitro, their heteromeric association does not alter the homomeric transcriptional properties of either on model reporter activity. '), ('7369', 'SET_NUP214', 'inv (7)(p15q34) / del (9) / ', 'SET', 'NUP214', '18299449', '17', 'T ALL\r\r', '', '', '', '', '', '', 'KB', '', 'SET-NUP214 binds in the promoter regions of specific HOXA genes, where it interacts with CRM1 and DOT1L, which may transcriptionally activate specific members of the HOXA cluster.     ///    We conclude that SET-NUP214 may contribute to the pathogenesis of T-ALL by enforcing T-cell differentiation arrest..     ///    \"Targeted inhibition of SET-NUP214 by siRNA abolished expression of HOXA genes, inhibited proliferation, and induced differentiation in LOUCY but not in other T-ALL lines. \"    ///    The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia..     ///    \"This deletion results in a conserved SET-NUP214 fusion product, which was also identified in the T-ALL cell line LOUCY. \"'), ('7370', 'P50_NFKB1', '', 'P50', 'NFKB1', '9047386', '17', 'multiple myeloma\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Interestingly, the mutated protein has a lower affinity for kappaB binding sites both as a homodimer or in association with the NFKB1/p50 subunit. '), ('7371', 'SOX4_ERG', '', 'SOX4', 'ERG', '24435928', '17', 'prostate cancer\r\r', 'PCR;ISH', '', '', '', '', 'Transcription_Factor', '', '', 'Our findings define a key role for ERG/SOX4 in the development of a subset of PCa and highlight the clinical importance of identifying molecularly defined tumor subgroups..     ///    ERG-SOX4 interaction promotes epithelial-mesenchymal transition in prostate cancer cells.. '), ('7372', 'HMX3_HMX2', '', 'HMX3', 'HMX2', '20112453', '17', '', '', '', '', '', '', '', '', '', 'Moreover, the recently duplicated Hmx2-Hmx3 genes are also tightly linked.     ///    \"Finally, we show that Lbx1-Tlx1 and Hmx2-Hmx3 are flanked by highly conserved noncoding elements, suggesting that shared regulatory regions may have resulted in evolutionary pressure to maintain these linkages. \"'), ('7373', 'vimentin_GFAP', '', 'vimentin', 'GFAP', '9920418', '17', '', '', '', '', '', '', '', '', '', 'In the present report, by double immunofluorescence cytochemistry S 100B was localized to both GFAP/vimentin IFs and MTs as well as to centrosomes in U251 glial cells. '), ('7374', 'MTC_MEN', '', 'MTC', 'MEN', '21542403', '17', 'hirschsprung disease', 'PCR', '', '', '', '', '', '', '', 'MEN/MTC, phaeochromocytoma, and a miscellaneous group of MEN pathologies). '), ('7375', 'RARA_PML', 't(15;17)(q22;q21) / ', 'RARA', 'PML', '24673420', '17', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript.     ///    \"PML-RARA fusion resulting from a cryptic insertion of RARA gene into PML gene without the reciprocal RARA-PML fusion: clinical, cytogenetic, and molecular characterization and prognosis.. \"'), ('7376', 'PEO_AR', '', 'PEO', 'AR', '9443465', '17', '', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Patients with AD-PEO harbored a greater proportion of deleted mtDNA species in muscle (31% +/- 5.3) than did patients with AR-PEO (9.7% +/- 9.1.     ///    \"The percentage of ragged-red and cytochrome c oxidase-negative fibers tended to be higher in muscle from the patients with AD-PEO (19% +/- 13.9, 29.7 +/- 26.3) than in muscle from the patients with AR-PEO (1.4% +/- 1.4, 3.3% +/- 3.2. \"    ///    \"In particular, the proportions of multiple mtDNA deletions were higher in muscle samples from patients with AD-PEO than in those from patients with AR-PEO.. \"    ///    the patients with AR-PEO had multisystem disorders.     ///    The HSP deletion was not present in the patients with AR-PEO. '), ('7377', 'RBM6_RBM5', '3p21.3 / ', 'RBM6', 'RBM5', '17908320', '17', '', '', '', '', '', '', '', 'KB', 'Seq', 'The results also suggest that RBM6-RBM5 transcription-induced chimerism might be a process that is linked to the tumour-associated increased transcriptional activity of the RBM6 gene.     ///    RBM6-RBM5 transcription-induced chimeras are differentially expressed in tumours..     ///    \"Finally, the association of chimeric expression with breast tumour size suggests that RBM6-RBM5 chimeric expression may be a potential tumour differentiation marker.. \"'), ('7378', 'RET_PTC', '', 'RET', 'PTC', '16181240', '17', 'papillary carcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'These oncogenes act along the RET/PTC(TRK)-RAS-BRAF-MEK-MAPK kinase pathway, mediating a number of cellular fates including growth, proliferation and survival in thyroid cells. '), ('7379', 'IG_BCL2', '', 'IG', 'BCL2', '11911406', '17', 'non Hodgkin lymphoma;follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Submission of fresh bone marrow for molecular genetic studies for the presence of Bcl-2-Ig fusion DNA was mandatory in previously untreated patients. '), ('7380', 'TCR_IG', '', 'TCR', 'IG', '17170730', '17', 'T cell leukemia', 'PCR', '', '', '', '', '', '', '', 'The TCR/Ig spectrum of each sample was analyzed in duplicate in two different laboratories using the standardized BIOMED-2 PCR multiplex tubes accompanied by international pathology panel review. '), ('7381', 'TCRG_TCRB', '', 'TCRG', 'TCRB', '15964782', '17', 'Omenn syndrome', 'PCR', '', '', '', '', '', '', '', 'T and B clonal cell populations were examined in peripheral blood lymphocytes by PCR and sequencing of TCRB/TCRG T cell and IGH FR2/FR3 B cell products. '), ('7382', 'TTC31_CCDC142', '2p13.1 / ', 'TTC31', 'CCDC142', '21790010', '17', '', '', '', '', '', '', '', '', '', 'Intergenic CCDC142-TTC31 region overlaps with CpG-island and contains a number of potential binding sites for transcription factors.     ///    The vectors containing genes of two fluorescent proteins--green (EGFP) and red (DsRed2) in opposite orientations separated by the fragment of CCDC142-TTC31 intergenic region were constructed. '), ('7383', 'CD23_CD21', '', 'CD23', 'CD21', '23011022', '17', 'T cell lymphoma;non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Expanded CD21/CD23-positive meshworks of follicular dendritic cells were present within and between regressed follicles and the T-cell infiltrate. '), ('7384', 'CD8_CD4', '', 'CD8', 'CD4', '23001765', '17', '', 'PCR', '', '', '', '', '', '', '', 'Percentages of thymocyte subpopulations including CD4 - CD8 - , CD4 + CD8 + , CD4 + CD8- and CD4 - CD8+ T cells, peripheral CD3 + , CD4+ and CD8+ cells were analyzed by flow cytometry. '), ('7385', 'MLL_MEN', 't(11;19) / ', 'MLL', 'MEN', '10233872', '17', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In the MLL/MEN fusion protein generated by this translocation, most of the coding region of the MEN protein, an RNA polymerase II elongation factor, is fused to the N-terminal third of the MLL protein, a possible transcriptional regulator.     ///    \"Moreover, p53 coimmunoprecipitated with MLL/MEN as well as MEN, suggesting that the fusion protein binds to p53 through the MEN region. \"    ///    \"Although we could not demonstrate a functional difference between MLL/MEN and MEN in this study, these data suggest that the MLL/MEN chimeric transcriptional regulator may exert its oncogenic activity by inhibiting the function of the p53 tumor-suppressor protein by binding to it. \"    ///    Transcriptional inhibition of p53 by the MLL/MEN chimeric protein found in myeloid leukemia.. '), ('7386', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '21880806', '17', 'thyroid carcinoma', 'PCR', '', '', '', 'Receptor', '', '', '', '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?. '), ('7387', 'RXRA_RARA', 't(15;17)(q24;q21) / ', 'RXRA', 'RARA', '24720386', '17', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'They have a dominant-negative effect on wild-type RARA/RXRA transcriptional activity. '), ('7388', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '21052502', '17', 'ewing sarcoma', '', '', '', '', '', '', '', '', 'This translocation encodes the oncogenic fusion protein EWS/FLI, which acts as an aberrant transcription factor to deregulate target genes necessary for oncogenesis.     ///    It is therefore likely that EWS/FLI and other cooperating mutations in Ewing\'s sarcoma modulate the cell cycle to facilitate tumorigenesis. '), ('7389', 'FGFR1OP2_FGFR1', 't(8;13)(p11;q12) / ', 'FGFR1OP2', 'FGFR1', '17389761', '17', 'acute myeloid leukemia;myeloproliferative disorder;myeloid leukemia;leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'Moreover, purified recombinant transactivator of transcription (TAT)-conjugated R18 proteins effectively transduced into human leukemia cells and induced significant apoptosis in KG-1a cells expressing FGFR1OP2-FGFR1 fusion tyrosine kinase but not in control HL-60 and Jurkat T cells. '), ('7390', 'RET_PTC', '', 'RET', 'PTC', '16028414', '17', 'thyroid nodule\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Assessment of RET/PTC oncogene activation in thyroid nodules utilizing laser microdissection followed by nested RT-PCR.. '), ('7391', 'CD57_CD56', '', 'CD57', 'CD56', '22800517', '17', 'T cell leukemia', 'PCR', '', '', '', '', '', '', '', 'Flow cytometery showed an immunophenotype of CD3(+) CD4(-) CD8(+) CD56(-) CD57(+) of the tumor cells in 13 cases. '), ('7392', 'NOS_CMPD', '', 'NOS', 'CMPD', '15257312', '17', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia;hypereosinophilic syndrome\r\r', 'PCR', '', '', '', '', '', '', '', 'Sequencing finally proved monoclonal B-cell population of both pre- and postfollicular origin in all four samples (5%), one CML and three CMPD-NOS. '), ('7393', 'SOD_EGFR', '', 'SOD', 'EGFR', '9810172', '17', '', 'PCR', 'Kinase', '', '', '', '', '', '', 'A significant amplification of EGFR gene (the EGFR/SOD ratio above the control value +/- 3 SD) was observed in 9 tumours among which, one revealed no EGFR-immunopositivity. '), ('7394', 'RET_PTC', '', 'RET', 'PTC', '18498667', '17', 'papillary carcinoma\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.     ///    Modulatory role of phospholipase D in the activation of signal transducer and activator of transcription (STAT)-3 by thyroid oncogenic kinase RET/PTC..     ///    \"Moreover, the RET/PTC-mediated transcriptional activation of STAT-3 was synergistically increased by over-expression of PLD, whereas the PLD activity as a lipid hydrolyzing enzyme was not affected by RET/PTC. \"    ///    These findings led us to suggest that the PLD synergistically functions to activate the STAT3 signaling by interacting directly with the thyroid oncogenic kinase RET/PTC..     ///    \"Although it has been established that RET/PTC kinase plays a crucial role in intracellular signaling pathways that regulate cellular transformation, growth, and proliferation in thyroid epithelial cells, the upstream signaling that leads to the activation of RET/PTC is largely unknown. \"    ///    PLD and RET/PTC could be co-immunoprecipitated from cells where each protein was over-expressed.     ///    \"Based on the observation of high levels of PLD expression in human papillary thyroid cancer tissues, we investigated whether PLD plays a role in the regulating the RET/PTC-induced STAT3 activation. \"    ///    \"In addition, the activation of PLD by pervanadate triggered phosphorylation of tyrosine 705 residue on STAT-3, and its phosphorylation was dramatically higher in TPC-1 cells (from papillary carcinoma) that have an endogenous RET/PTC1 than in ARO cells (from anaplastic carcinoma) without alteration of total STAT-3 expression. \"    ///    Direct interaction between RET/PTC and PLD was analyzed by co-immunoprecipitation assay. '), ('7395', 'P27_KIP1', '', 'P27', 'KIP1', '7757974', '17', '', 'PCR', '', '', '', '', '', '', '', 'In this study, the partial structure of a CDKI gene, p27/Kip1, was determined.     ///    The p27/Kip1 and p21 CDKIs belong to the other group.     ///    \"The latter group of the CDKIs, including p27/Kip1 and p21, are rarely mutated in human malignancies.. \"    ///    The coding region of the p27/Kip1 gene consists of at least two exons and an intron of about 600 bp.     ///    \"In addition, a large number of human cancers (432 cases) and cancer cell lines (20 lines) were analyzed for alterations of the p27/Kip1 gene by Southern blot analysis and PCR/single-strand conformation polymorphism. \"    ///    Molecular analysis of the cyclin-dependent kinase inhibitor gene p27/Kip1 in human malignancies..     ///    \"In summary, no abnormalities of the p27/Kip1 gene were detected in human malignancies. \"'), ('7396', 'TRNK_TRNH', '', 'TRNK', 'TRNH', '11985273', '17', '', 'PCR', '', '', '', '', '', '', '', 'All chloroplast primer pairs (rbcL-rbcL, rbcL-PSA I, TrnH-Trnk, TrnD-TrnT, TrnK-TrnK) and three (nad 1 exon B-nad 1 exon C, 18S rRNA-5S rRNA, nad 4 exon 1-nad 4 exon 2) of the five mitochondrial primer pairs, were efficiently amplified, but no polymorphism was detected, when the PCR products were digested by eleven restriction endonucleases, including, Hin6 I, Bus RI, Taq I, Msp I, HinfI, AluI, Dra I, EcoR I, Hind III, BamH I and Pst I respectively, three polymorphic cpDNA-CAPS markers (rbcL-rbcL/Hin 6 I, TrnD-TrnT/BusR I, TrnD-TrnT/Taq I) and one mtDNA-CAPS marker (nad 1-nad1/Msp I) were found. '), ('7397', 'NPM_ALK', '', 'NPM', 'ALK', '15214912', '17', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'examining NPM-ALK translocation in each case with ALK expression should be useful to characterize the disease further.. '), ('7398', 'NPM_ALK', 't(2;5)(p23;q35) / ', 'NPM', 'ALK', '17416736', '17', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We show that in 293T and Jurkat cells, forced expression of active NPM-ALK, but not kinase-dead mutant NPM-ALK (210K>R), induced JNK and cJun phosphorylation, and this was linked to a dramatic increase in AP-1 transcriptional activity.     ///    \"cJun phosphorylation in NPM-ALK(+) ALCL cells is mediated by JNKs, as shown by selective knocking down of JNK1 and JNK2 genes using siRNA. \"    ///    \"Taken together, these findings reveal a novel function of NPM-ALK, phosphorylation and activation of JNK and cJun, which may contribute to uncontrolled cell-cycle progression and oncogenesis.. \"    ///    NPM-ALK oncogenic kinase promotes cell-cycle progression through activation of JNK/cJun signaling in anaplastic large-cell lymphoma..     ///    \"Conversely, inhibition of ALK activity in NPM-ALK(+) ALCL cells resulted in a concentration-dependent dephosphorylation of JNK and cJun and decreased AP-1 DNA-binding. \"    ///    \"In addition, JNK physically binds NPM-ALK and is highly activated in cultured and primary NPM-ALK(+) ALCL cells. \"'), ('7399', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '21354057', '17', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To our knowledge, the presence of PML-RARA and CBFB-MYH11 in healthy individuals has not been previously described.     ///    \"To detect the presence or absence of these genetic alterations in healthy individuals, sensitive nested RT-PCR analyses were performed on a large number of peripheral blood samples for selected markers including MLL partial tandem duplications (PTDs), BCR-ABL p190, BCR-ABL p210, MLL-AF4, AML1-ETO, PML-RARA, and CBFB-MYH11. \"'), ('7400', 'RARA_PML', '', 'RARA', 'PML', '21354057', '17', 'leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'To detect the presence or absence of these genetic alterations in healthy individuals, sensitive nested RT-PCR analyses were performed on a large number of peripheral blood samples for selected markers including MLL partial tandem duplications (PTDs), BCR-ABL p190, BCR-ABL p210, MLL-AF4, AML1-ETO, PML-RARA, and CBFB-MYH11.     ///    \"To our knowledge, the presence of PML-RARA and CBFB-MYH11 in healthy individuals has not been previously described. \"'), ('7401', 'IGH_BCL2', '', 'IGH', 'BCL2', '19858392', '17', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Quantitative PCR analysis for Bcl-2/IgH in a phase III study of Yttrium-90 Ibritumomab Tiuxetan as consolidation of first remission in patients with follicular lymphoma.. '), ('7402', 'CDKN2B_CDKN2A', '', 'CDKN2B', 'CDKN2A', '18237450', '17', '', 'PCR', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Homozygous deletions were identified at 10 different genomic locations, most frequently affecting CDKN2A/CDKN2B in 9p21 (32%). '), ('7403', 'WNT2_ST7', '', 'WNT2', 'ST7', '12012006', '17', 'non small cell lung cancer;squamous cell carcinoma;leukemia;breast cancer;lung cancer;melanoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'ST7R-WNT2B and ST7-WNT2 gene clusters might be generated due to duplication of an ancestral gene cluster. '), ('7404', 'BCR_ABL1', 't(6;15)(p25;q22) / t(6;19) / t(9;22)(q34;q11) / t(9;22)  / t(6;15)  / ', 'BCR', 'ABL1', '8111741', '17', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Because only one additional fragment was observed, both cell lines apparently share the same breakpoint in the ABL/BCR gene. '), ('7405', 'RUNX1T1_RUNX1', 't(8;21) / t(8;21)  / ', 'RUNX1T1', 'RUNX1', '26994850', '17', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'The median fold decrease of the RUNX1/RUNX1T1 transcript level was 200 (1-358000), and 16.7% (5/30) patients achieved >3 log decrease after one cycle of the HAA regimen.     ///    The RUNX1/RUNX1T1 transcript level was assessed by RT-qPCR. '), ('7406', 'CD19_B220', '', 'CD19', 'B220', '10700466', '17', '', 'PCR', '', '', '', '', '', '', '', 'Identification of CD19(-)B220(+)c-Kit(+)Flt3/Flk-2(+)cells as early B lymphoid precursors before pre-B-I cells in juvenile mouse bone marrow.. '), ('7407', 'SST_CST', '', 'SST', 'CST', '22588000', '17', '', 'PCR', '', '', '', '', '', '', '', 'These results indicate that the SST/CST system is expressed in endometriotic tissues and cells.     ///    Our objective was to investigate the gene expression of the SST/CST system and to determine the effect of SST and its analogues on platelet-derived growth factor (PDGF)-induced proliferation and motility in telomerase-immortalized human endometrial stromal cell (T HESC) line and in primary endometrial stromal cell (ESCs) isolated from human endometriotic tissues. '), ('7408', 'P27_KIP1', '12p12.3 / ', 'P27', 'KIP1', '10439360', '17', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This genetic interval contains two known genes: TEL/ETV6, an ets-like transcription factor, and the cyclin-dependant kinase inhibitor, p27/kip1. '), ('7409', 'TRNT_TRND', '', 'TRNT', 'TRND', '11985273', '17', '', 'PCR', '', '', '', '', '', '', '', 'All chloroplast primer pairs (rbcL-rbcL, rbcL-PSA I, TrnH-Trnk, TrnD-TrnT, TrnK-TrnK) and three (nad 1 exon B-nad 1 exon C, 18S rRNA-5S rRNA, nad 4 exon 1-nad 4 exon 2) of the five mitochondrial primer pairs, were efficiently amplified, but no polymorphism was detected, when the PCR products were digested by eleven restriction endonucleases, including, Hin6 I, Bus RI, Taq I, Msp I, HinfI, AluI, Dra I, EcoR I, Hind III, BamH I and Pst I respectively, three polymorphic cpDNA-CAPS markers (rbcL-rbcL/Hin 6 I, TrnD-TrnT/BusR I, TrnD-TrnT/Taq I) and one mtDNA-CAPS marker (nad 1-nad1/Msp I) were found. '), ('7410', 'P16_CDK4', '', 'P16', 'CDK4', '9563903', '17', 'B cell lymphoma;sarcoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Our results also suggest that it is more informative to examine aberrations in the \"p16-CDK4/cyclin D-RB\" pathway than to selectively examine individual components in this pathway when investigating genetic changes involved in human malignancy.. '), ('7411', 'ETO_AML1', '', 'ETO', 'AML1', '12791658', '17', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'FLT3 abnormalities in CBF leukemias with AML1-ETO or CBFbeta-MYH11 were virtually restricted to cases with variant CBFbeta-MYH11 fusion transcripts and/or atypical morphology. '), ('7412', 'CYP2D7_CYP2D6', '', 'CYP2D7', 'CYP2D6', '8554938', '17', '', 'PCR', '', '', '', '', '', '', '', 'This involved a deletion of an approximately 20 kilobase (kb) DNA segment generating a hybrid 5\' CYP2D7/CYP2D6 3\' gene.     ///    An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype.. '), ('7413', 'RET_PTC3', '', 'RET', 'PTC3', '16181547', '17', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Among them, 5 cases (7.6%) were RET/PTC1 and 9 cases (13.6%) were RET/PTC3 respectively. '), ('7414', 'RANKL_OPG', '', 'RANKL', 'OPG', '23411401', '17', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' We previously demonstrated that the activation of transient receptor potential vanilloid 1 (TRPV1), a nociceptive ion channel receptor, by capsaicin led to the up-regulation of the osteoprotegerin (OPG)/receptor activator of nuclear factor kappa B ligand (RANKL) ratio in human periodontal ligament (HPDL) cells. '), ('7415', 'WAF1_CIP1', '11p15.5 / ', 'WAF1', 'CIP1', '19934273', '17', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'This review is a thorough analysis of data available on p57(KIP2), in relation to p21(CIP1/WAF1) and p27(KIP1), on gene and protein structure, its transcriptional and translational regulation, and its role in human physiology and pathology, focusing on cancer development..     ///    \"It is a cyclin-dependent kinase inhibitor belonging to the CIP/KIP family, which includes additionally p21(CIP1/WAF1) and p27(KIP1). \"'), ('7416', 'TEL_AML1', '', 'TEL', 'AML1', '10463613', '17', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'In contrast, no significant allele bias was seen in other groups of pediatric leukemias with TEL-AML1 fusions (n = 50) or hyperdiploidy (n = 29). '), ('7417', 'ETO_AML1', '', 'ETO', 'AML1', '19035174', '17', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'AML1-ETO (+) M2 patients expressed the highest levels (all P<0.01), followed by acute promyelocytic leukemia patients with S type PML-RAR alpha fusion gene.     ///    \"abl was selected as control gene, PRAME and AML1-ETO mRNA levels were expressed by their copies/abl copies in percentage. \"    ///    \"PRAME and AML1-ETO mRNA levels of follow up patients displayed similar kinetic patterns, and correlated well in 43 follow up samples (r=0.88, P<0.01). \"    ///    Samples from 7 AML1-ETO (+) M2 patients were detected for AML1-ETO mRNA simultaneously. '), ('7418', 'CD8_CD4', '', 'CD8', 'CD4', '11552988', '17', 'mycosis fungoides\r\r', 'PCR', '', '', '', '', '', '', '', 'Double CD34-positive and CD4/CD8-negative selection achieved a median reduction of 3.89 log of T cells. '), ('7419', 'RET_PTC3', '', 'RET', 'PTC3', '16630482', '17', 'lymphocytic thyroiditis\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Sixty-six papillary thyroid carcinomas (PTC) and thirty-six control cases with frozen and paraffin-embedded tissues were analyzed for the expressions of WT-RET and oncogene RET/PTC1 or RET/PTC3 by nested RT-PCR.     ///    \"(3) Fourteen PTCs (21.2%) expressed RET/PTC, including five cases expressing RET/PTC1 and nine cases expressing RET/PTC3. \"'), ('7420', 'CD8_CD4', '', 'CD8', 'CD4', '22800517', '17', 'T cell leukemia', 'PCR', '', '', '', '', '', '', '', 'Flow cytometery showed an immunophenotype of CD3(+) CD4(-) CD8(+) CD56(-) CD57(+) of the tumor cells in 13 cases. '), ('7421', 'MPO_CD68', '', 'MPO', 'CD68', '23121029', '17', 'histiocytic necrotizing lymphadenitis;Kikuchi-Fujimoto disease;peripheral T cell lymphoma', 'PCR', '', '', '', '', '', '', '', 'Among diagnostic features of HNL/K-F identification of the proliferating cells - CD8 activated lymphocytes with apoptotic decay prevail, there are frequent plasmacytoid monocytes and a striking reaction of macrophages which are CD68/myeloperoxidase positive. '), ('7422', 'WNT2B_ST7R', '', 'WNT2B', 'ST7R', '12012006', '17', 'non small cell lung cancer;squamous cell carcinoma;leukemia;breast cancer;lung cancer;melanoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'ST7R-WNT2B and ST7-WNT2 gene clusters might be generated due to duplication of an ancestral gene cluster. '), ('7423', 'RARA_PL', 't(15;17) / ', 'RARA', 'PL', '11559723', '17', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Eighty-six percent of the patients who were assessable by reverse transcriptase polymerase chain reaction converted from positive to negative for the promyelocytic leukemia/retinoic acid receptor-alpha transcript by the completion of their consolidation therapy. '), ('7424', 'ROS1_FIG', '', 'ROS1', 'FIG', '23052255', '17', 'lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'RACE isolated a GOPC-ROS1 (FIG-ROS1) fusion in the former and a KIF5B-RET fusion in the latter, both confirmed by RT-PCR. '), ('7425', 'ETO_AML1', '', 'ETO', 'AML1', '19377049', '17', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'One example is AML1-ETO, the most common translocation reported in acute myeloid leukemia (AML).     ///    Identification of AML1-ETO modulators by chemical genomics..     ///    \"In addition to modulating the AML1-ETO signature, both classes induced evidence of differentiation, dramatically inhibited cell viability, and ultimately induced apoptosis via on-target activity. \"    ///    \"To identify AML1-ETO modulators, we screened a small molecule library using a chemical genomic approach. \"    ///    The corticosteroids diminished AML1-ETO protein in AML cells in a proteasome- and glucocorticoid receptor-dependent manner. '), ('7426', 'RET_KIF5B', '', 'RET', 'KIF5B', '23052255', '17', 'lung cancer;adenocarcinoma\r\r', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', '', '', 'The KIF5B-RET patient was one of only five never smokers in this cohort.     ///    Identification of KIF5B-RET and GOPC-ROS1 fusions in lung adenocarcinomas through a comprehensive mRNA-based screen for tyrosine kinase fusions..     ///    \"The KIF5B-RET fusion defines an additional subset of lung cancer with a potentially targetable driver oncogene enriched in never smokers with \"\"pan-negative\"\" lung adenocarcinomas. \"    ///    \"RACE isolated a GOPC-ROS1 (FIG-ROS1) fusion in the former and a KIF5B-RET fusion in the latter, both confirmed by RT-PCR. \"'), ('7427', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15785241', '17', 'thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PPARgamma may play a role in thyroid carcinogenesis since PAX8-PPARgamma1 chromosomal translocations are commonly found in follicular thyroid cancers. '), ('7428', 'TATDN2_GHRLOS', '3p25.3 / ', 'TATDN2', 'GHRLOS', '18954468', '17', '', '', '', '', '', '', '', '', '', 'Interestingly, we have also identified a putative non-coding TATDN2-GHRLOS chimaeric transcript, indicating that GHRLOS RNA biogenesis is extremely complex. '), ('7429', 'RET_PTC1', '', 'RET', 'PTC1', '19107227', '17', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1-driven neoplastic transformation and proinvasive phenotype of human thyrocytes involve Met induction and beta-catenin nuclear translocation..     ///    \"We have previously shown that, in human primary thyrocytes, RET/PTC1 induces a transcriptional program including the MET proto-oncogene. \"    ///    \"Accordingly, gene/functional silencing of either RET/PTC1 or MET abrogated early branching morphogenesis in TPC-1 cells. \"    ///    \"Here, we show that Met protein is expressed and is constitutively active in human thyrocytes exogenously expressing RET/PTC1 as well as a mutant (Y451F) devoid of the main Ret/ptc1 multidocking site. \"'), ('7430', 'RET_PTC2', '', 'RET', 'PTC2', '9466701', '17', 'papillary carcinoma;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'and 3) all the tumors were negative for RET/PTC2. '), ('7431', 'NPR1_GCA', '1p33.36 / ', 'NPR1', 'GCA', '20444705', '17', '', '', 'Kinase', '', '', 'Receptor', '', '', '', 'GREBP, a cGMP-response element-binding protein repressing the transcription of natriuretic peptide receptor 1 (NPR1/GCA)..     ///    We report here the existence of a human-specific gene that acts as a transcriptional repressor of the NPR1/GCA gene..     ///    \"After ANP stimulation, NPR1/GCA down-regulates the transcriptional activity of its gene via a cGMP-dependent mechanism. \"    ///    Silencing GREBP with specific small interfering RNA increased the activity of the luciferase-coupled NPR1 promoter and GCA/NPR1 mRNA levels.     ///    \"In H295R cells, ANP heightened GREBP expression by 60% after just 3 h of treatment while inhibiting NPR1/GCA expression by 30%. \"    ///    \" NPR1/GCA (natriuretic peptide receptor 1/guanylyl cyclase A) expression is controlled by several agents, including ANP (atrial natriuretic peptide). \"'), ('7432', 'PEPD_GPI', '', 'PEPD', 'GPI', '7904041', '17', '', '', '', '', '', '', '', '', '', 'One such syntenic arrangement includes the GPI-PEPD enzyme association on Xiphophorus linkage group IV and human chromosome 19. '), ('7433', 'IL6_IL10', '', 'IL6', 'IL10', '16972650', '17', 'lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'The vitreous IL-10/IL-6 ratio was higher than 1 in all cases. '), ('7434', 'HEB_E2A', '', 'HEB', 'E2A', '10958665', '17', '', '', '', '', '', '', '', '', '', 'These results indicate that E2A-HEB heterodimers play obligatory roles both before and after TCRbeta gene rearrangement during the alpha/beta lineage T-cell development..'), ('7435', 'RNaseA_DNase I', '', 'RNaseA', 'DNase I', '11195781', '17', '', 'PCR', '', '', '', '', '', '', '', 'Matrix-attached (M) and matrix-independent or loop (L) fractions as well as nuclear matrices were isolated using extractions of nuclei with 25 mM lithium 3,5-diiodosalicylate (LIS), 2 M NaCl, 0.65 M ammonium sulphate containing buffers followed by DNase I/RNase A digestion, or according to so designated conventional method. ');
INSERT INTO `ChimerPub_dump` VALUES ('7436', 'ZFY_ZFX', '', 'ZFY', 'ZFX', '24496683', '17', 'diorders of sex development\r\r', 'PCR', '', '', '', '', '', '', '', 'Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. '), ('7437', 'TAG_ATC', '', 'TAG', 'ATC', '10487757', '17', '', '', '', '', '', '', '', '', '', 'We show that the complex readblocked within an (ATC/TAG)(n) sequence is in a dynamic equilibrium between upstream- and downstream- translocated conformers. '), ('7438', 'P53_NT4', '', 'P53', 'NT4', '20211059', '17', 'hepatocellular carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'After restriction enzyme digestion, the interest gene of p53(N15)-Ant was inserted in pBV220/NT4 vector and fusion gene of NT4-p53(N15)-Ant was subcloned into the plasmid of lentivirus and cotransferred into HEK-293 cells with helper plasmid.     ///     To construct a recombinant lentivirus vector containing fusion gene NT4-p53(N15)-Ant and transfer it into HepG2 cancer cells for gene therapy.     ///    \"The recombinant lentivirus vector encoding gene NT4-p53(N15)-Ant is successfully constructed in this experiment by molecular cloning and recombination in vitro techniques, and the results suggested that this fusion gene has an anti-tumor effect, which provides the basis for further research on recombinant adenovirus for cancer gene therapy.. \"    ///    \"NT4-p53(N15)-Ant on HepG2 cells was measured by a colorimetric 3-[4,5-dimethyl thiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) assay. \"    ///    NT4-p53(N15)-Ant.     ///    \"NT4-p53(N15)-Ant and its potential mechanism was detected by light microscopy, electron microscopy, MTT, LDH-release assay and annexin V-PI double staining. \"    ///    \"NT4-p53(N15)-Ant at 48 h, 72 h and 96 h after infection was 682 IU/L, 815 IU/L and 979 IU/L, respectively, significantly increased than that in the LV. \"    ///    [Recombinant lentivirus-mediated gene transfer of NT4-p53(N15)-Ant inhibits the growth of hepatocellular carcinoma cells in vitro]..     ///    \"High titer of the recombinant lentivirus was obtained by homologous recombination in HEK-293 cell lines (1 x 10(11) pfu/ml), and the expression of NT4-p53(N15)-Ant gene in HepG2 cells was confirmed by RT-PCR. \"'), ('7439', 'MIR1200_ELMO1', '', 'MIR1200', 'ELMO1', '26189108', '17', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Eleven novel translocations involved the genes ART4, C12orf60, MACROD2, TBL1XR1, LRRN4, KIAA1467, and ELMO1/MIR1200. '), ('7440', 'RET_ELKS', '', 'RET', 'ELKS', '18335752', '17', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '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. '), ('7441', 'CDR3_CDR1', '', 'CDR3', 'CDR1', '12964052', '17', 'lymphoma', 'PCR', '', '', '', '', '', '', '', 'PCR with primers complementary to relatively conserved regions called frameworks (FR1-FR3) laying among hyper variable regions (CDR1-CDR3) of IgH gene unable us to detect monoclonal versus polyclonal B-cell population. '), ('7442', 'OTT_MAL', 't(1;22)  / ', 'OTT', 'MAL', '12691142', '17', 'down syndrome\r\r', '', '', '', '', '', '', '', '', 'Accordingly, OTT-MAL transcript study, in infant M7 with normal karyotype, is recommended and we feel that this entity should be added to the WHO AML classification.. '), ('7443', 'P65_P55', '', 'P65', 'P55', '19948825', '17', 'hydrocephalus', '', '', '', '', '', '', '', '', 'Histopathology at P55/P65 revealed unilateral hippocampal sclerosis (grade IV, modified Wyler/Watson scale) comprising >50% CA1 and CA3 neuron loss and astrogliosis. '), ('7444', 'CTNNB1_TCF', '1p36.32 / ', 'CTNNB1', 'TCF', '11712074', '17', 'gastric cancer\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As LZIC contains ICAT homologous domain, LZIC might inhibit the interaction between beta-catenin and TCF transcription factors, just like ICAT, and, up-regulation of LZIC in gastric cancer might be due to a negative feed-back mechanism to inhibit the WNT - beta-catenin - TCF signaling pathway..     ///    \"As ICAT might be a tumor suppressor gene with the potential to negatively regulate the WNT - beta-catenin - TCF signaling pathway, ICAT related gene in the human genome draft sequence was searched for. \"'), ('7445', 'ROS_PKC', '', 'ROS', 'PKC', '24090212', '17', '', 'PCR', '', '', '', '', '', '', '', 'These findings suggested that profilin-1 might act as an ultimate and common cellular effector in the process of metabolic memory (endothelial abnormalities) mediated by AGEs via the ROS/PKC or ROS/NF-?B signalling pathways.. '), ('7446', 'RET_PTC1', '', 'RET', 'PTC1', '8622903', '17', 'thyroid carcinoma;papillary carcinoma\r\r', 'RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here we report the generation of transgenic mice lines expressing the RET/PTC1 oncogene under the control of the thyroid-specific rat thyroglobulin promoter.     ///    Development of thyroid papillary carcinomas secondary to tissue-specific expression of the RET/PTC1 oncogene in transgenic mice..     ///    RET/PTC1-transgenic mice developed thyroid tumors displaying the histological aspect of papillary carcinomas.     ///    These arrangements cause the fusion of the tyrosine-kinase domain of RET to the 5\'-terminal region of different genes creating the RET/PTC chimeric oncogenes. '), ('7447', 'CTNNB1_TCF', '', 'CTNNB1', 'TCF', '12012006', '17', 'non small cell lung cancer;squamous cell carcinoma;leukemia;breast cancer;lung cancer;melanoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'WNT2 and WNT2B isoform 2 (WNT2B2) are positive regulators of the WNT - beta-catenin - TCF signaling pathway. '), ('7448', 'BCR3_PML-RAR', 't(15;17)  / ', 'BCR3', 'PML-RAR', '9242550', '17', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Consistent with these data, the binding of 9-cis-RA to the bcr3-PML/RAR alpha product resulted in increased transcriptional activation of the RA-responsive element (RARE) TRE, but not of the betaRARE, in transiently transfected COS-1 cells.     ///    By competition binding experiments we showed that 9-cis-RA binds with higher specificity to the bcr3-PML/RAR alpha isoform than to the bcr1-PML/RAR alpha or RAR alpha.     ///    \"Using saturation binding assays and Scatchard analyses we found that t-RA binds with slightly less affinity to the bcr3-PML/RAR alpha receptor than to bcr1-PML/RAR alpha or RAR alpha (Kd = 0.4 nmol/L, 0.13 nmol/L or 0.09 nmol/L, respectively). \"    ///    In the present study we have investigated the structural and functional properties of the bcr3-PML/RAR alpha in comparison to the previously characterized bcr1-PML/RAR alpha.     ///    \"Moreover, two different high-affinity 9-cis-RA binding sites (Kd = 0.45 and 0.075 nmol/L) were detectable in the bcr3-PML/RAR alpha product but not in the bcr1-PML/RAR alpha product (Kd = 0.77 nmol/L). \"    ///    T-RA binding analysis of nuclear and cytosolic extracts prepared from bcr3-PML/RAR alpha APL patients and from bcr3-PML/RAR alpha COS-1 transfected cells indicates that this protein is present only as high-molecular-weight nuclear complexes.     ///    \"However, in APL patients achieving complete remission with t-RA therapy the bcr3-PML/RAR alpha product has been found associated with a poorer prognosis than bcr1-PML/RAR alpha. \"'), ('7449', 'BCR_ABL1', '', 'BCR', 'ABL1', '22110503', '17', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Screening for BCR-ABL1 mutations in Philadelphia-positive ALL allows to identify patients who may benefit from second-generation tyrosine kinase inhibitors or from novel compounds targeting the T315I mutation. '), ('7450', 'ROS_FIG', 'del(6)(q21q21) / ', 'ROS', 'FIG', '12661006', '17', 'glioblastoma multiforme\r\r', '', '', '', '', '', '', '', '', 'The FIG-ROS transcript is encoded by 7 FIG exons and 9 ROS-derived exons.     ///    \"By characterizing both FIG and ROS genes in normal and in U118MG GBM cells, we determined that an intra-chromosomal homozygous deletion of 240 kilobases on 6q21 is responsible for the formation of the FIG-ROS locus. \"    ///    \"We also demonstrate that the FIG-ROS locus encodes for an in-frame fusion protein with a constitutively active kinase activity, suggesting that FIG-ROS may act as an oncogene. \"'), ('7451', 'ELF4_MEF', 't(X;21)(q26;q22) / ', 'ELF4', 'MEF', '16530702', '17', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells. '), ('7452', 'ETO_AML1', '', 'ETO', 'AML1', '21354057', '17', 'leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To detect the presence or absence of these genetic alterations in healthy individuals, sensitive nested RT-PCR analyses were performed on a large number of peripheral blood samples for selected markers including MLL partial tandem duplications (PTDs), BCR-ABL p190, BCR-ABL p210, MLL-AF4, AML1-ETO, PML-RARA, and CBFB-MYH11. '), ('7453', 'WAF1_CIP1', '', 'WAF1', 'CIP1', '7548219', '17', '', 'PCR', '', '', '', '', '', '', '', 'Seven of 102 (7%) human tumor samples were identified to have point mutations within the coding region of the Cip1/Waf1 gene.     ///     We have screened for mutations in the Cip1/Waf1 gene using Southern blot analysis and the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) method in diverse human tumors.     ///    These results suggest that the frequency of genetic alterations in the Cip1/Waf1 gene is relatively low in comparison with several known tumor suppressor genes..     ///    Molecular analysis of the Cip1/Waf1 (p21) gene in diverse types of human tumors.. '), ('7454', 'MDR1_ABCB1', '', 'MDR1', 'ABCB1', '26219569', '17', 'non small cell lung cancer;lung cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'ABCB1/MDR1) were queried using RT-PCR, western blot analysis, chemical inhibitors, the MTT cell proliferation/survival assay, and cellular efflux of rhodamine 123. '), ('7455', 'RET_PTC3', '', 'RET', 'PTC3', '9768676', '17', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Four of the PTCs contained RET/PTC1, confirmed by sequencing, and none contained RET/PTC2 or RET/PTC3. '), ('7456', 'CD4_CD3', '', 'CD4', 'CD3', '19602068', '17', 'T cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Immunohistochemistry showed a cytotoxic phenotype (CD3 + /CD4 -/CD8 +). '), ('7457', 'CD8_CD4', '', 'CD8', 'CD4', '9602691', '17', 'cutaneous T cell lymphoma;erythroderma', 'PCR', '', '', '', '', '', '', '', 'In addition, CD4:CD8 ratios in skin and peripheral blood samples were investigated.    ///    \"In addition, CD4:CD8 ratios in skin and peripheral blood samples were investigated. \"'), ('7458', 'KROX20_EGR1', 'del(5q) / ', 'KROX20', 'EGR1', '19597464', '17', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Cytogenetic mapping of commonly deleted regions (CDRs) centered on 5q31 and 5q32 identified candidate tumor-suppressor genes, including the ribosomal subunit RPS14, the transcription factor Egr1/Krox20 and the cytoskeletal remodeling protein, alpha-catenin. '), ('7459', 'CDKN2B_CDKN2A', '', 'CDKN2B', 'CDKN2A', '19643034', '17', 'sarcoma\r\r', 'PCR', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Microsatellite markers on a paired tumour and blood DNA pointed to loss of heterozygosity on chromosome 11 in the CDKN2B-CDKN2A tumour suppressor gene cluster region. '), ('7460', 'BCR_ABL1', '', 'BCR', 'ABL1', '20227268', '17', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'STAT5 also plays a key role in the generation of B cell precursor acute lymphoblastic leukemia, whereby the BCR-ABL1 translocation or the collaboration of JAK2 mutations with overexpression of the thymic stromal lymphopoietin receptor CRLF2 results in constitutive STAT5 activation leading to cytokine-independent survival and growth of leukemic cells.. '), ('7461', 'CCND1_CD5', '', 'CCND1', 'CD5', '10333231', '17', 'follicular lymphoma;mantle cell lymphoma;lymphoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The other case (CD10+ CD5- cyclin D1-) was highly mutated and showed intraclonal heterogeneity (ongoing somatic hypermutation). '), ('7462', 'HES_CEL', '', 'HES', 'CEL', '15257312', '17', 'myeloproliferative disorder;chronic myeloid leukemia;myeloid leukemia;leukemia;hypereosinophilic syndrome\r\r', 'PCR', '', '', '', '', '', '', '', 'Histological investigation in 31 chronic myeloid leukemia (CML), 29 CMPDs not otherwise specified (CMPD-NOS), 28 essential thrombocytosis (ET), 15 polycythemia vera (PV) and three chronic eosinophilic leukemia/hypereosinophilic syndrome (CEL/HES) exhibited in 32% various amounts of lymphocytic infiltrate of sparsely to moderately diffuse or nodular types in the bone marrow, but the reactive or coinciding lymphomatous nature could not be revealed by histology alone in the majority of cases. '), ('7463', 'EML4_ALK', '', 'EML4', 'ALK', '27033383', '17', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The frequency of EML4-ALK mutation was higher in the early stage patients with solid predominant tumors and invasive mucinous adenocarcinomas (P=0.025, P=0.014, respectively). '), ('7464', 'CD56_CD4', '', 'CD56', 'CD4', '19504395', '17', 'B cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'A unique case of B cell lymphoma relapsing as CD4/CD56 blastic neoplasm.. '), ('7465', 'IGH_BCL1', '', 'IGH', 'BCL1', '16929787', '17', 'lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Bcl-2/IgH and Bcl1/IgH traslocations were also analyzed for follicular and mantle cells lymphomas respectively. '), ('7466', 'RET_PTC2', '', 'RET', 'PTC2', '9768676', '17', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Four of the PTCs contained RET/PTC1, confirmed by sequencing, and none contained RET/PTC2 or RET/PTC3. '), ('7467', 'RARA_PML', 't(15;17)  / t(9;22)  / t(15;17)(q22;q12) / del(6) / t(9;22) / ', 'RARA', 'PML', '21378481', '17', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PML/RARA and minor BCR/ABL were also detected by quantitative reverse transcription polymerase chain reaction of bone marrow cells (52,000 copies/?gRNA and 650 copies/?gRNA, respectively).     ///    \"Post-induction bone marrow examination demonstrated 46, XY[20] and PML/RARA 240 copies/?gRNA, whereas minor BCR/ABL was not detected. \"'), ('7468', 'P16_P15', '', 'P16', 'P15', '10634644', '17', 'acute myeloid leukemia;T ALL;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'In hematological malignancies, deletion of p16/p15 locus has been shown to be highly specific to lymphoid malignancies, and more particularly to T-cell acute lymphoblastic leukemia (T-ALL). '), ('7469', 'RET_PTC1', '', 'RET', 'PTC1', '20703476', '17', 'thyroid nodule\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Overall, 50 mutations were identified (23 BRAF, 4 RET/PTC1, 2 RET/PTC3, 21 NRAS) in the thyroid FNA biopsies. '), ('7470', 'PGL_PCCS', '', 'PGL', 'PCCS', '23418310', '17', 'paraganglioma', 'PCR', '', '', '', '', '', '', '', 'We assessed 41 PCCs/PGLs for mutations in EPAS1 and herein describe the clinical, molecular and genetic characteristics of the 7 patients found to carry somatic EPAS1 mutations.     ///    \"4 presented with multiple PGLs (3 of them also had congenital erythrocytosis), whereas 3 were single sporadic PCC/PGL cases. \"    ///    \"The finding that EPAS1 is involved in the sporadic presentation of the disease not only increases the percentage of PCCs/PGLs with known driver mutations, but also highlights the relevance of studying other hypoxia-related genes in apparently sporadic tumors. \"    ///    \"The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. \"'), ('7471', 'ETO_AML1', 't(12;21)(p13;q22) / ', 'ETO', 'AML1', '11347199', '16', 'hematologic malignancy;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'AML1 can be altered in childhood acute lymphoblastic leukaemia (ALL) and also in a substantial number of acute myeloid leukaemias (most frequently as an AML1/ETO fusion). '), ('7472', 'RET_PTC3', '', 'RET', 'PTC3', '8290261', '16', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Finally we provide evidence indicating that the rearrangement leading to the generation of RET/PTC3 occurred in vivo in the original tumor DNA..     ///    Molecular characterization of RET/PTC3.     ///    This novel chimeric oncogene has been designated RET/PTC3. '), ('7473', 'EML4_ALK', '', 'EML4', 'ALK', '23486270', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Ineffectiveness of crizotinib on brain metastases in two cases of lung adenocarcinoma with EML4-ALK rearrangement.    ///    Ineffectiveness of crizotinib on brain metastases in two cases of lung adenocarcinoma with EML4-ALK rearrangement.. '), ('7474', 'EML4_ALK', '', 'EML4', 'ALK', '26377037', '16', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In these patients, EGFR and KRAS mutations as well as EML4/ALK rearrangements are recognized as \"drivers\" and as targets for therapy.     ///    \"24.8% of patients were EGFR mutated (31/125), 21.6% were KRAS mutated (27/125) and 13.6% hadan EML4/ALK rearrangement (17/125). \"    ///    The presence of EML4/ALK rearrangement was associated with an increased PE risk..     ///    \"Data on the oncogene drivers (EGFR, KRAS or EML4/ALK) of the same patients were collected.\"    ///    \"Data on the oncogene drivers (EGFR, KRAS or EML4/ALK) of the same patients were collected. \"'), ('7475', 'PAX8_PPARG', '', 'PAX8', 'PPARG', '25629769', '16', 'thyroid nodule;thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PAX8/PPARG and RET/PTC rearrangements were detected by real-time quantitative polymerase chain reaction, while BRAF and RAS mutations were detected by pyrosequencing.    ///    \"PAX8/PPARG and RET/PTC rearrangements were detected by real-time quantitative polymerase chain reaction, while BRAF and RAS mutations were detected by pyrosequencing. \"'), ('7476', 'SLC45A3_ERG', '', 'SLC45A3', 'ERG', '19293179', '16', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG, TMPRSS2-ETV1, and SLC45A3-ERG rearrangements account for roughly 90% of ETS fusion prostate cancer. '), ('7477', 'NPM_ALK', 't(2;5)(p23;q35) / p23;q35 / ', 'NPM', 'ALK', '10192426', '16', 'non Hodgkin Lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Both large and small cells were reactive with antibody ALK1, which recognizes the chimaeric NPM-ALK protein associated with the t(2;5)(p23;q35). '), ('7478', 'NAB2_STAT6', '', 'NAB2', 'STAT6', '26226844', '16', 'solitary fibrous tumor', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Despite the associations of NAB2-STAT6 fusion variants with several clincopathological factors, their prognostic relevance should be further validated in large-scale prospective studies of SFTs.    ///    NAB2-STAT6 fusion types account for clinicopathological variations in solitary fibrous tumors..     ///    The implications of NAB2-STAT6 fusion variants in pathological features and clinical behavior remain to be characterized in a large cohort of SFTs.     ///    \"Despite the associations of NAB2-STAT6 fusion variants with several clincopathological factors, their prognostic relevance should be further validated in large-scale prospective studies of SFTs. \"    ///    \"Solitary fibrous tumor (SFT) is characterized by the inv12(q13q13)-derived NAB2-STAT6 fusion, which exhibits variable breakpoints and drives STAT6 nuclear expression.\"    ///    \"Eighty cases had formalin-fixed and/or fresh samples to extract assessable RNAs for RT-PCR assay, which revealed NAB2-STAT6 fusion variants comprising 12 types of junction breakpoints in 73 fusion-positive cases, with 65 (89%) falling into 3 major types. \"    ///    \" Solitary fibrous tumor (SFT) is characterized by the inv12(q13q13)-derived NAB2-STAT6 fusion, which exhibits variable breakpoints and drives STAT6 nuclear expression. \"'), ('7479', 'EML4_ALK', '', 'EML4', 'ALK', '25408655', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Although the lung biopsy sample was insufficient for molecular testing, hybrid capture-based comprehensive genomic profiling (FoundationOne) identified an EML4-ALK rearrangement in the RUE lesion.    ///    A Poorly Differentiated Malignant Neoplasm Lacking Lung Markers Harbors an EML4-ALK Rearrangement and Responds to Crizotinib..     ///    \"Although the lung biopsy sample was insufficient for molecular testing, hybrid capture-based comprehensive genomic profiling (FoundationOne) identified an EML4-ALK rearrangement in the RUE lesion. \"'), ('7480', 'EML4_ALK', '', 'EML4', 'ALK', '25750344', '16', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Patients with non-small cell lung cancer (NSCLC) harboring epidermal growth factor receptor (EGFR) gene mutations or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) rearrangement often have a better prognosis when they are treated with specific inhibitors than when treated with cytotoxic agents.    ///     Patients with non-small cell lung cancer (NSCLC) harboring epidermal growth factor receptor (EGFR) gene mutations or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) rearrangement often have a better prognosis when they are treated with specific inhibitors than when treated with cytotoxic agents. '), ('7481', 'EWSR1_FLI1', '', 'EWSR1', 'FLI1', '23637256', '16', 'small cell carcinoma', '', '', '', '', '', '', 'KB', 'Seq', 'The tumor disclosed the EWSR1-FLI1 rearrangement, and we propose to designate it as a carcinoma of the thyroid with Ewing family tumor elements..    ///    \"The tumor disclosed the EWSR1-FLI1 rearrangement, and we propose to designate it as a carcinoma of the thyroid with Ewing family tumor elements.. \"'), ('7482', 'EML4_ALK', '', 'EML4', 'ALK', '26677785', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Three ALK+ NSCLC patients treated between 2011 and 2014 (two males, two never smokers, age range 20-54years, all echinoderm microtubule-associated protein-like 4/ALK rearrangement), were diagnosed with progressing cerebral disease while receiving crizotinib.    ///    \"Three ALK+ NSCLC patients treated between 2011 and 2014 (two males, two never smokers, age range 20-54years, all echinoderm microtubule-associated protein-like 4/ALK rearrangement), were diagnosed with progressing cerebral disease while receiving crizotinib. \"'), ('7483', 'EML4_ALK', '', 'EML4', 'ALK', '26398829', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A Case of Atypical Carcinoid: Harboring Variant 3a/b EML4-ALK Rearrangement.    ///    A Case of Atypical Carcinoid: Harboring Variant 3a/b EML4-ALK Rearrangement.. '), ('7484', 'FUS_CHOP', 't(12;16)(q13,p11) / t(12;16) /  / ', 'FUS', 'CHOP', '10347549', '16', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A rare chimeric TLS/FUS-CHOP transcript in a patient with multiple liposarcomas: a case report.. '), ('7485', 'AKAP9_BRAF', '', 'AKAP9', 'BRAF', '19766698', '16', 'thyroid cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Several types of rearrangement known to occur in thyroid cancer, including RET/PTC, NTRK1 and BRAF/AKAP9, are more common in radiation-associated thyroid tumors and RET/PTC can be induced experimentally by exposing human thyroid cells to ionizing radiation.    ///    \"Several types of rearrangement known to occur in thyroid cancer, including RET/PTC, NTRK1 and BRAF/AKAP9, are more common in radiation-associated thyroid tumors and RET/PTC can be induced experimentally by exposing human thyroid cells to ionizing radiation. \"'), ('7486', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '26563355', '16', 'colorectal cancer', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'The TPM3-NTRK1 rearrangement is a recurring event in CRC that renders tumors sensitive to TRKA kinase inhibitors in preclinical models.    ///    The TPM3-NTRK1 rearrangement is a recurring event in CRC that renders tumors sensitive to TRKA kinase inhibitors in preclinical models. '), ('7487', 'EML4_ALK', '', 'EML4', 'ALK', '25119973', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'All lung cancer patients with mutant epidermal growth factor receptor (EGFR) or rearranged EML4-ALK eventually develop acquired resistance to treatment.    ///    \"Patients with mutant EGFR or rearranged EML4-ALK non-small cell lung cancer (NSCLC) and acquired resistance to tyrosine kinase inhibitors were included in a retrospective study to determine the percentage of patients who underwent rebiopsy and whether rebiopsy would have been possible, or not, in the remaining patients. \"    ///     All lung cancer patients with mutant epidermal growth factor receptor (EGFR) or rearranged EML4-ALK eventually develop acquired resistance to treatment. '), ('7488', 'RET_PTC3', '', 'RET', 'PTC3', '11786418', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Whereas the prevalences of RET/PTC1 and RET/PTC3 were almost equal in classic and follicular PTC, all of the TCV-positive cases expressed the RET/PTC3 rearrangement.     ///    We have expressed the two oncogenes in PC Cl 3 rat thyroid epithelial cells and found that RET/PTC3 is endowed with a strikingly more potent mitogenic effect than RET/PTC1.     ///    RET/PTC1 and RET/PTC3 are the most prevalent variants.     ///    \"Mechanistically, this difference correlated with an increased signaling activity of RET/PTC3. \"    ///    These findings prompted us to compare RET/PTC3 and RET/PTC1 in an in vitro thyroid model system.     ///    Potent mitogenicity of the RET/PTC3 oncogene correlates with its prevalence in tall-cell variant of papillary thyroid carcinoma.. '), ('7489', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '20526288', '16', 'thyroid carcinoma;follicular adenoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'One encapsulated carcinoma showed a PAX8/PPARgamma rearrangement, whereas two infiltrative tumors harbored RET/PTC fusions. '), ('7490', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '19363522', '16', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma.. '), ('7491', 'PPARG_PAX8', 't(2;3)(q13;p25) / ', 'PPARG', 'PAX8', '10958784', '16', 'thyroid carcinoma;papillary carcinoma;leukemia;sarcoma;lymphoma;follicular adenoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The experiments demonstrate an oncogenic role for PPARgamma and suggest that PAX8-PPARgamma1 may be useful in the diagnosis and treatment of thyroid carcinoma.. '), ('7492', 'STRN_ALK', '', 'STRN', 'ALK', '24475247', '16', 'thyroid carcinoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The STRN/ALK transcript consisted of the fusion between exon 3 of STRN and exon 20 of ALK.     ///    \"High resolution array-comparative genomic hybridization data complemented by RT-PCR and sequencing analyses, allowed us to demonstrate the presence of a STRN/ALK fusion. \"    ///    Identification of a recurrent STRN/ALK fusion in thyroid carcinomas.. '), ('7493', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '23893969', '16', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Low-grade brain tumors (pilocytic astrocytomas) that result from a genomic rearrangement in which the BRAF kinase domain is fused to the amino terminal of the KIAA1549 gene (KIAA1549:BRAF fusion.     ///    \"To model this temporal and spatial specificity in mice, we generated conditional KIAA1549:BRAF strains that coexpresses green fluorescent protein (GFP).\"    ///    The availability of this unique KIAA1549:BRAF conditional transgenic mouse strain will enable future mechanistic studies aimed at defining the developmentally-regulated temporal and spatial determinants that underlie low-grade astrocytoma formation in children..     ///    Using Cre driver lines in which KIAA1549:BRAF expression was directed to NSCs (f-BRAF.     ///    Conditional KIAA1549:BRAF mice reveal brain region- and cell type-specific effects..     ///    \"To model this temporal and spatial specificity in mice, we generated conditional KIAA1549:BRAF strains that coexpresses green fluorescent protein (GFP). \"'), ('7494', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '15193447', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Forty-one point six percent of patients with normal karyotypes and 66.6% of patients without mitoses presented with the ETV6/RUNX1 rearrangement.     ///    ETV6/RUNX1 rearrangement in childhood B-precursor acute lymphoblastic leukemia with normal karyotypes or without cytogenetic results..     ///     The ETV6/RUNX1 rearrangement (also known as TEL/AML1) was evaluated in 39 children with B-precursor acute lymphoblastic leukemia (ALL) who had a normal karyotype or lack of mitoses.     ///    One patient without the ETV6/RUNX1 rearrangement and without mitoses showed two extra signals of the RUNX1 gene.. '), ('7495', 'RET_PTC3', '', 'RET', 'PTC3', '12057919', '16', 'thyroid nodule;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No RET/PTC1 or RET/PTC3 rearrangements were detected in areas of the same tumors that lacked the cytological alterations.     ///    RET/PTC1 or RET/PTC3 were detected in microscopic foci with papillary carcinoma features in most of the thyroid nodules (five of seven cases). '), ('7496', 'NUP214_DEK', 't(6;9)(p22;q34) / ', 'NUP214', 'DEK', '18181180', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Consistent with the association with AML, the increased protein synthesis mediated by DEK-NUP214 is restricted to cells of the myeloid lineage.     ///    Our findings reveal a substantial increase in global protein synthesis in DEK-NUP214 expressing cells.     ///    \"Analysis of potential mechanisms for regulating protein synthesis shows that expression of DEK-NUP214 correlates to the phosphorylation of the translation initiation protein, EIF4E. \"    ///    \"The mechanism by which the fusion protein DEK-NUP214 contributes to leukemia development has not been identified, and disruptions of normal cellular functions by DEK-NUP214 have previously not been described. \"    ///    Identification of a novel and myeloid specific role of the leukemia-associated fusion protein DEK-NUP214 leading to increased protein synthesis..     ///    \"In the present study, a novel effect of the DEK-NUP214 fusion protein is demonstrated. \"'), ('7497', 'LMNA_NTRK1', '', 'LMNA', 'NTRK1', '26546295', '16', 'colorectal cancer\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'A patient with metastatic colorectal cancer harboring an LMNA-NTRK1 rearrangement displayed a remarkable response to treatment with entrectinib, which was followed by the emergence of resistance.    ///    \"A patient with metastatic colorectal cancer harboring an LMNA-NTRK1 rearrangement displayed a remarkable response to treatment with entrectinib, which was followed by the emergence of resistance. \"'), ('7498', 'RET_PTC3', '', 'RET', 'PTC3', '11443191', '16', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, eight cases with an unknown RET/PTC rearrangement and three cases with the concomitant expression of RET/PTC1 and RET/PTC3 were found.     ///    The relative frequency of RET/PTC1 and RET/PTC3 in rearranged benign tumors showed no major difference. '), ('7499', 'RET_ELKS', '', 'RET', 'ELKS', '15876154', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We identified one tumor as having an ELKS-RET rearrangement (1 of 105, 1%).     ///    \"RT-PCR was performed to amplify fusion products of RET/PTC1, RET/PTC2, RET/PTC3, and ELKS-RET from frozen tissue of 105 sporadic PTCs. \"'), ('7500', 'RET_PTC3', '', 'RET', 'PTC3', '17727338', '16', 'thyroid nodule\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' To evaluate BRAF(V600E) mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB\'s usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET/PTC1 and RET/PTC3 rearrangements obtained from ex vivo thyroid nodules. '), ('7501', 'GOPC_ROS1', '', 'GOPC', 'ROS1', '24999209', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Lack of GOPC-ROS1 (FIG-ROS1) rearrangement in adult human gliomas.    ///    Lack of GOPC-ROS1 (FIG-ROS1) rearrangement in adult human gliomas.. '), ('7502', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '19293179', '16', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG, TMPRSS2-ETV1, and SLC45A3-ERG rearrangements account for roughly 90% of ETS fusion prostate cancer. '), ('7503', 'TEC_EWS', 't(9;17)  / ', 'TEC', 'EWS', '18330902', '16', 'chondrosarcoma;ewing sarcoma;sarcoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Although there has been a great deal of progress in characterizing EWS-TEC, there is relatively little known about the biological function of hTAF(II)68-TEC.     ///    \" Human extraskeletal myxoid chondrosarcoma (EMC) is caused by a chromosomal translocation that involves TEC (translocated in extraskeletal myxoid chondrosarcoma), and either EWS (Ewing\'s sarcoma) or hTAF(II)68 (human TATA-binding protein-associated factor II 68), which generates EWS-TEC or hTAF(II)68-TEC fusion proteins, respectively. \"'), ('7504', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19293179', '16', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG, TMPRSS2-ETV1, and SLC45A3-ERG rearrangements account for roughly 90% of ETS fusion prostate cancer. '), ('7505', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '24915144', '16', 'thyroid nodule\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A PAX8/PPARG rearrangement was found in one malignant HTN.     ///    \"The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.. \"'), ('7506', 'MLLT10_MLL', '', 'MLLT10', 'MLL', '25475940', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'A new rearrangement giving rise to a very rare MLL-MLLT10 fusion mRNA in an infant acute myeloid leukemia.. '), ('7507', 'EWSR1_FLI1', '', 'EWSR1', 'FLI1', '24275884', '16', 'medullary carcinoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The existence of small cell thyroid tumors with EWSR1-FLI1 rearrangement together with neuroendocrine and/or carcinomatous differentiation raises not only differential diagnostic problems but also a very interesting therapeutic dilemma.    ///    The existence of small cell thyroid tumors with EWSR1-FLI1 rearrangement together with neuroendocrine and/or carcinomatous differentiation raises not only differential diagnostic problems but also a very interesting therapeutic dilemma. '), ('7508', 'FUS_CREB3L2', '', 'FUS', 'CREB3L2', '24666374', '16', 'sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'MUC 4-negative FUS-CREB3L2 rearranged low-grade fibromyxoid sarcoma.    ///    MUC 4-negative FUS-CREB3L2 rearranged low-grade fibromyxoid sarcoma.. '), ('7509', 'MLL_ENL', '', 'MLL', 'ENL', '21831428', '16', '', '', '', '', '', '', '', '', '', 'The first case of blastic plasmacytoid dendritic cell neoplasm with MLL-ENL rearrangement.. '), ('7510', 'MLL_AF5Q31', '', 'MLL', 'AF5Q31', '12759932', '16', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Because MLL and AF5Q31 are transcribed in opposite orientations, a simple balanced chromosomal translocation cannot produce a fusion protein, and complex chromosomal rearrangements such as insertions and inversions are required to produce an MLL-AF5Q31 fusion protein.     ///    \"We have identified a second case of MLL-AF5Q31 fusion, arising from an insertion of MLL sequences into chromosome 5, also in an infant leukemia patient. \"    ///    Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia.. '), ('7511', 'MLL_ACTN4', '', 'MLL', 'ACTN4', '24561789', '16', 'hematologic malignancy;hematologic malignancy\r\r', '', '', '', '', '', 'Transcription_Factor', '', 'Seq', 'Molecular characterization and clinical course of MLL-ACTN4 rearrangement in therapy-related hematologic malignancies.. '), ('7512', 'EML4_ALK', '', 'EML4', 'ALK', '26739511', '16', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A total of 618 patients had mutations in EGFR or KRAS gene as well as rearrangement of EML4-ALK.    ///    A total of 618 patients had mutations in EGFR or KRAS gene as well as rearrangement of EML4-ALK.     ///    \"Here, we analyzed the mutational frequency of EGFR and KRAS gene, as well as EML4-ALK rearrangement, and summarized the clinicopathological characters of Chinese lung cancer patients. \"    ///    \"Rearrangement of EML4-ALK was more common in non-tobacco-using male patients, who also exhibited a higher likelihood of visceral pleura invasion.\"    ///    \"Rearrangement of EML4-ALK was more common in non-tobacco-using male patients, who also exhibited a higher likelihood of visceral pleura invasion. \"'), ('7513', 'EML4_ALK', '', 'EML4', 'ALK', '23060582', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Characteristics were compared among patients classified positive for EGFR mutations, EML4-ALK rearrangement, or patients who were double-negative for these changes.     ///    EGFR mutations and the EML4-ALK rearrangements were detected in substantial proportions of patients with locally advanced NSCLC.     ///    Clinical outcomes of thoracic radiotherapy for locally advanced NSCLC with EGFR mutations or EML4-ALK rearrangement..     ///    We identified 11 (29.7%) patients with EGFR mutations and 3 (8.1%) with an EML4-ALK rearrangement. '), ('7514', 'RET_PTC3', '', 'RET', 'PTC3', '22481925', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Thyroglobulin (TG) and thyroid peroxidase (TPO) expression was found to be significantly decreased in tumors, and the lowest level of TPO expression occurred in a tumor harboring both the p.A67GTTF-2 variant and a RET/PTC3 rearrangement.. '), ('7515', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '22226019', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A total of 380 newly diagnosed children (including 50 infants and 44 T-ALL) were screened by RT-PCR; the incidence of recurrent rearrangements was: ETV6-RUNX1, 12.9%; TCF3-PBX1, 5.0%; BCR-ABL1, 1.6%; and MLL rearrangements, 10.5%.    ///    \"TCF3-PBX1, 5.0%. \"'), ('7516', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '22803838', '16', '', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'An FHCC with a solid/microfollicular growth pattern scored positive for both RET/PTC and PAX8/PPARG rearrangement.     ///    \"In an attempt to clarify this issue, we analysed a series of H?rthle cell tumours for the presence of RET/PTC and PAX8/PPARG rearrangements and BRAF, HRAS and NRAS mutations. \"    ///    \"PAX8/PPARG rearrangement was present in 27% of the FHCCs which displayed, in most cases, a follicular architecture. \"'), ('7517', 'TEL_JAK2', 't(9;12)(p24;p13) / ', 'TEL', 'JAK2', '9360930', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'TEL-induced oligomerization of TEL-JAK2 resulted in the constitutive activation of its tyrosine kinase activity and conferred cytokine-independent proliferation to the interleukin-3-dependent Ba/F3 hematopoietic cell line..     ///    The TEL-JAK2 fusion protein includes the catalytic domain of JAK2 and the TEL-specific oligomerization domain.     ///    A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia.. '), ('7518', 'RET_PTC3', '', 'RET', 'PTC3', '15876154', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The prevalence of RET/PTC1, RET/PTC2, and RET/PTC3 has been found to vary between 0% and 20% in most series of sporadic (nonradiation-induced) PTCs analyzed by type-specific reverse transcription-polymerase chain reaction (RT-PCR) alone.     ///    \"RT-PCR was performed to amplify fusion products of RET/PTC1, RET/PTC2, RET/PTC3, and ELKS-RET from frozen tissue of 105 sporadic PTCs. \"    ///    \"Of these tumors, 3 involved RET/PTC1 and 4 involved RET/PTC3. \"    ///    \"In our study, RET/PTC1, RET/PTC2, and RET/PTC3 oncogenes were found in only 7 of 105 (7%) sporadic PTCs. \"    ///    \"RT-PCR was also performed with two different primer sets for RET/PTC1, RET/PTC2, and RET/PTC3 followed by Southern hybridization in the first 62 tumors. \"    ///    \"Because the high prevalence of RET rearrangements in Chinese patients was particularly striking, we were prompted to reexamine chimeric transcripts of RET/PTC1, RET/PTC2, and RET/PTC3 using the same experimental designs in a larger number of cases in the same population. \"'), ('7519', 'RET_PTC', '', 'RET', 'PTC', '17160155', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular factors such as rearrangements of genes RET/PTC, RAS mutations and fusion of, paired box and 8/peroxisome proliferator-activated receptor gamma (PAX8/PPARgamma) are also involved in thyroid cancer prognosis, while some others: human Pituitary- Tumor Transforming Gene (e.g. '), ('7520', 'BCR_ABL1', '', 'BCR', 'ABL1', '20811403', '16', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Seven of eight patients who sustained CMR off therapy had BCR-ABL1 DNA detected at least once after stopping imatinib, but none has relapsed (follow-up 12-41 months).     ///    We used a highly sensitive patient-specific nested quantitative PCR to look for evidence of genomic BCR-ABL1 DNA in patients who sustained CMR after stopping imatinib therapy.     ///    \"BCR-ABL1 DNA levels increased in all of the 10 patients who lost CMR soon after imatinib cessation, whereas serial testing of patients in sustained CMR showed a stable level of BCR-ABL1 DNA. \"    ///    This more sensitive assay for BCR-ABL1 provides evidence that even patients who maintain a CMR after stopping imatinib may harbor residual leukemia.     ///    \"undetectable breakpoint cluster region-Abelson leukemia gene human homolog 1 (BCR-ABL1) mRNA) on imatinib can stop therapy and remain in CMR, at least for several years. \"'), ('7521', 'RET_PTC', '', 'RET', 'PTC', '22803838', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements were found in 33% of FHCAs and in 38% of FHCCs.     ///    \"In an attempt to clarify this issue, we analysed a series of H?rthle cell tumours for the presence of RET/PTC and PAX8/PPARG rearrangements and BRAF, HRAS and NRAS mutations. \"    ///    RET/PTC rearrangement is prevalent in follicular H?rthle cell carcinomas..     ///    An FHCC with a solid/microfollicular growth pattern scored positive for both RET/PTC and PAX8/PPARG rearrangement.     ///    \"Our study has shown a significant association between RET/PTC rearrangements and FHCCs with a solid growth pattern, thus raising the possibility of using tyrosine kinase inhibitors for the treatment of patients with FHCCs, which are often refractory to radioiodine treatment.. \"    ///    All RET/PTC-positive FHCCs had a solid pattern of growth. '), ('7522', 'RET_PTC', '', 'RET', 'PTC', '20578891', '16', 'anaplastic thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These include PIK3CA mutations and genomic amplification/copy gain, Ras mutations, PTEN mutations, RET/PTC and PPARgamma/Pax8 rearrangements, as well as amplification/copy gain of PIK3CB, PDK1, Akt, and various receptor tyrosine kinase genes.     ///    \"RET/PTC, Ras, and receptor tyrosine kinase could dually activate the PI3K/Akt and MAPK pathways. \"'), ('7523', 'RET_CCDC6', '', 'RET', 'CCDC6', '25773866', '16', 'malignant pleural effusion', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The detected RET rearrangements comprised 11 (65%) KIF5B-RET and 6 (35%) CCDC6-RET fusions, including 2 novel fusion variants identified.     ///    Multiplex reverse transcription-polymerase chain reaction (RT-PCR) was used to detect KIF5B-RET and CCDC6-RET fusions from specimens of malignant pleural effusion (MPE) in patients with metastatic lung adenocarcinoma. '), ('7524', 'RET_PTC', '', 'RET', 'PTC', '11429694', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The RET/PTC oncogenes, generated by chromosomal rearrangements in papillary thyroid carcinomas, are constitutively activated versions of protoRET, a gene encoding two protein isoforms of a transmembrane tyrosine kinase receptor. '), ('7525', 'TCR_CD3', '', 'TCR', 'CD3', '7706773', '16', 'T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Eighty-three to ninety-three percent of the patient\'s CD4+ T cells in the peripheral blood and 70% of the CD4+ T cells in the lesional skin lacked surface expression of the TCR/CD3 complex and showed a clonal rearrangement pattern of the TCR gamma-chain gene (V11-J1/J2).     ///    \"In contrast, the patient\'s purified CD4+ TCR-CD3- T cells not only expressed mRNA specific for the TCR alpha-chain and for all CD3 chains, but intracytoplasmic TCR alpha and CD3 epsilon proteins could also be found. \"    ///    The lack of TCR beta protein clearly explains the defective surface expression of the TCR/CD3 complex in the patient\'s malignant T cells..     ///    \"Although mRNA for the TCR constant region beta 1 was found in the patient\'s purified CD4+ TCR-CD3- T cells, no intracytoplasmic TCR beta protein was detectable. \"'), ('7526', 'DMD_BMD', '', 'DMD', 'BMD', '2277382', '16', '', 'PCR', '', '', '', '', '', '', '', ' Over the last two years we have screened 183 DMD/BMD families requesting prenatal diagnosis.     ///    Deletion analysis of DMD/BMD families from the German Democratic Republic and selected regions of Czechoslovakia and Hungary.. '), ('7527', 'EML4_ALK', '', 'EML4', 'ALK', '25819217', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The identification of the EML4-ALK rearrangement in 5% of NSCLC enhanced the development of 1st generation ALK inhibitors such as crizotinib. '), ('7528', 'P300_CBP', 't(8;21)  / ', 'P300', 'CBP', '15333839', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'These interactions are mediated by a conserved ETO TAF4 homology domain and a 17-amino acid p300/CBP and ETO target motif within AD1 activation domains of E proteins. '), ('7529', 'RET_PTC', '', 'RET', 'PTC', '21878896', '16', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Common mutations found in thyroid cancer are point mutation of the BRAF and RAS genes as well as RET/PTC and PAX8/PPAR? chromosomal rearrangements. '), ('7530', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '19543912', '16', '', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Five cases of TT-UMP showed N-RAS mutations, while one showed H-RAS mutation and another PAX8/PPARgamma rearrangement. '), ('7531', 'DMD_BMD', '', 'DMD', 'BMD', '9048922', '16', 'duchenne and Becker muscular dystrophy\r\r', 'PCR', '', '', '', '', '', '', '', ' Population-based variations in frequency and distribution of dystrophin gene deletions have been recognized in Duchenne/Becker (DMD/BMD) muscular dystrophy patients.     ///    \"In the present study, DNA samples from 121 unrelated DMD/BMD patients from North India were analyzed for deletional studies with multiplex PCR and Southern hybridization. \"'), ('7532', 'MAPK14_AMPK', '', 'MAPK14', 'AMPK', '18927084', '16', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Retinoic acid leads to cytoskeletal rearrangement through AMPK-Rac1 and stimulates glucose uptake through AMPK-p38 MAPK in skeletal muscle cells..     ///    \"In summary, our results suggest that retinoic acid may have cytoskeletal roles in skeletal muscle cells via stimulation of the AMPK-Rac1-PAK-cofillin pathway and may also have beneficial roles in glucose metabolism via stimulation of the AMPK-p38 MAPK pathway.. \"'), ('7533', 'TCL1_MTCP1', '', 'TCL1', 'MTCP1', '18073348', '16', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' T-cell prolymphocytic leukemia (T-PLL) is consistently associated with inactivation of the ATM gene and chromosomal re-arrangements leading to an overexpression of MTCP1/TCL1 oncoproteins. '), ('7534', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '9724795', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'AML1 up-regulates a number of target genes critical to normal hematopoiesis, whereas the AML1/ETO fusion interferes with this trans-activation.     ///    This observation provides a mechanism for how the AML1/ETO fusion may inhibit expression of AML1-responsive target genes and disturb normal hematopoiesis.. '), ('7535', 'RET_PTC3', '', 'RET', 'PTC3', '23888303', '16', 'follicular thyroid carcinoma;thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Ras and BRAF mutations, RET/PTC1, RET/PTC3, and PAX8/PPAR? rearrangements were analyzed. '), ('7536', 'RAC1_AMPK', '', 'RAC1', 'AMPK', '18927084', '16', '', '', '', '', '', '', '', '', '', 'Retinoic acid leads to cytoskeletal rearrangement through AMPK-Rac1 and stimulates glucose uptake through AMPK-p38 MAPK in skeletal muscle cells.. '), ('7537', 'RET_PTC1', '', 'RET', 'PTC1', '19500021', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Inhibition of MKK1/2 using CI-1040 or U0126 differentially inhibits the growth of a panel of PTC and ATC cell lines in two-dimensional culture, with those harboring the BRAF V600E mutation (SW1736) or BRAF-V600E/PI3K-E542K mutations (K1) being the most sensitive, the RET/PTC1 rearrangement (TPC1) and BRAF V600E mutant (BCPAP), intermediate, and the HRAS-G13R mutant (C643), the least sensitive.     ///    \"When cells are grown in three-dimensional culture, MKK1/2 inhibition of growth correlates with mutational status (BRAF > RET/PTC1 > RAS). \"'), ('7538', 'THY1_CD44', '', 'THY1', 'CD44', '11927635', '16', '', '', '', '', '', '', '', '', '', 'Furthermore, only the CD44(-) Thy1(+) subset have initiated rearrangements in the T cell receptor beta locus. '), ('7539', 'FLI1_EWS', 't(11;22)  / t(11;22)(q24;q12) / t(11;22) / ', 'FLI1', 'EWS', '10221334', '16', 'ewing sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Reverse transcriptase-PCR on total tumor cell RNA from the examined cases showed five types of EWS-FLI1 chimeric product, resulting from various junctions between EWS exon 7 or 10 with FLI1 exon 5, 6, or 8.     ///    Genomic sequence analysis of both EWS-FLI1 and FLI1-EWS chimeric genes in three of the seven cases demonstrated a deletion and duplication of both EWS and FLI1 sequences in two cases and no gain or loss in one case. '), ('7540', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23716539', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Similarly, the MLL/AF4 rearrangement constantly increased up to the 5(th) decade, while the ETV6/RUNX1 rearrangement disappeared from the age of 30 onwards. '), ('7541', 'MYC_IGH', 't(8;14) (q24;32) / t(12;17) (q24;q21) / ', 'MYC', 'IGH', '12720160', '16', 'plasma cell neoplasm', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Although the tumor has aggressive biological behavior with c-myc-IgH rearrangement, it has retained the salient features of WM. '), ('7542', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21641642', '16', 'systemic mastocytosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Imatinib is effective in patients with increased mast cells and eosinophils associated with FIP1L1/PDGFRA+ (e.g., myeloid neoplasm with eosinophilia and rearrangement of PDGFRA) or rare patients with SM associated with KIT mutations outside of exon 17. '), ('7543', 'RFP_RET', '', 'RFP', 'RET', '15771616', '16', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'More than 10 rearranged forms of RET, referred to as RET/PTC 1-9, ELKS/RET and RFP/RET, have been cloned from sporadic and radiation-associated papillary thyroid carcinomas. '), ('7544', 'RET_PTC', '', 'RET', 'PTC', '22323563', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our data also raise a possibility that RET/PTC rearrangement can be initiated by a complex DSB that is induced in one of the fusion partner genes..     ///    \"IR causes double-strand breaks (DSBs), suggesting that such damage leads to RET/PTC, but the rearrangement mechanism has not been established. \"    ///    \"Although all but one RE caused DSB in one or more of the three genes involved in RET/PTC, rearrangement was detected only in cells electroporated with either PvuII (25 and 100? U) or StuI (100 and 250 ?U). \"    ///    \"Chromosomal rearrangements, such as RET/PTC, are characteristic features of radiation-associated thyroid cancer and can be induced by radiation in vitro. \"    ///    Both enzymes that produced RET/PTC had restriction sites only in one of the two fusion partner genes.     ///    \"Moreover, the two enzymes that produced RET/PTC had restriction sites present in clusters, which was not the case for RE that failed to induce RET/PTC. \"    ///    \"To study the mechanism, we explored the possibility of inducing RET/PTC by electroporation of restriction endonucleases (REs) into HTori-3 human thyroid cells. \"'), ('7545', 'RET_PTC', '', 'RET', 'PTC', '16946010', '16', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements and BRAF mutations in thyroid tumorigenesis..     ///    Molecular inhibitors that block RET/PTC or BRAF kinase activity have shown substantial therapeutic effects in the experimental systems and are currently being tested in clinical trials.. '), ('7546', 'TEL_AML1', '', 'TEL', 'AML1', '19579075', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In the current study (26 cases), the frequencies of the most frequent genetic rearrangements TEL-AML1, MLL/AF4, BCR-ABL (major and minor) in ALL in children from Mexico City were determined.     ///    \"For the ALL, the frequency of MLL/AF4 was 65.4%, for TEL-AML1 and that of BCR/ABL was 3.8%. \"'), ('7547', 'RET_PTC', '', 'RET', 'PTC', '11927965', '16', 'papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We tested the prevalence of RET/PTC rearrangements in 26 HT, in 6 papillary carcinomas arising in the background of HT, and in 27 papillary carcinomas not associated with HT.     ///    \"These results suggest that, if the association between HT and thyroid cancer exists, its molecular basis is different from RET/PTC rearrangement.. \"    ///    \"Recently, 2 studies reported a 95% prevalence of RET/PTC rearrangements in histologically benign tissue affected by HT, suggesting that multiple occult tumors exist in HT patients with high frequency. \"    ///    Prevalence of RET/PTC rearrangements in Hashimoto\'s thyroiditis and papillary thyroid carcinomas..     ///    \"We detected no RET/PTC rearrangements in HT or papillary carcinomas arising in the background of HT, in contrast to a 33% prevalence among papillary carcinomas not associated with HT. \"'), ('7548', 'TERT_CLPTM1L', '5p13.33 / ', 'TERT', 'CLPTM1L', '20460502', '16', 'acute lymphoblastic leukemia;chronic lymphocytic leukemia;lymphoblastic leukemia;leukemia;mantle cell lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Sequence variants at the TERT-CLPTM1L locus in chromosome 5p have been recently associated with disposition for various cancers. '), ('7549', 'MIR16_MIR15a', '', 'MIR16', 'MIR15a', '18281475', '16', 'chronic lymphocytic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'The resulting high-resolution genomic maps, together with array-based measurements of expression levels of RNA in CLL cases with and without del13q14 and quantitative PCR-based expression analysis of selected genes, support the following conclusions: (a) del13q14 is heterogeneous and composed of multiple subtypes, with deletion of Rb or the miR15a/miR16 loci serving as anatomic landmarks, respectively.     ///    and (e) approximately 15% of CLL cases display marked reductions in miR15a/miR16 expression that are often but not invariably associated with bi-allelic miR15a/miR16 loss.     ///    (b) del13q14 type Ia deletions are relatively uniform in length and extend from breakpoints close to the miR15a/miR16 cluster to a newly identified telomeric breakpoint cluster at the approximately 50.2 to 50.5 Mb physical position. '), ('7550', 'PDL1_PDCD1', '', 'PDL1', 'PDCD1', '25287912', '16', 'breast cancer;colorectal cancer;lung cancer;melanoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, we discuss emerging therapeutic targets including novel oncogenic alterations (ROS1 rearrangements, FGFR1 amplifications, CMET amplifications, and others) and molecular features of the tumor microenvironment (including immune-checkpoint molecules such as CTLA4 and PD-1/PD-L1). '), ('7551', 'PCSK9_EGF', '', 'PCSK9', 'EGF', '19001363', '16', 'familial hypercholesterolemia', '', '', '', '', '', '', '', '', 'Compared with the low pH PCSK9-EGF(A) structure, the new structure revealed rearrangement of the EGF(A) His-306 side chain and disruption of the salt bridge with PCSK9 Asp-374, thus suggesting the basis for enhanced interaction at low pH.     ///    Structural and biochemical characterization of the wild type PCSK9-EGF(AB) complex and natural familial hypercholesterolemia mutants.. '), ('7552', 'EML4_ALK', '', 'EML4', 'ALK', '25434695', '16', 'non small cell lung cancer;lung cancer;adenocarc\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We showed that younger age at diagnosis was the only independent variable associated with EML4-ALK rearrangements (odds ratio (OR) per 5 years\' increment, 0.68.     ///    \"In this cross-sectional study, 1160 NSCLC patients were prospectively enrolled and genotyped for EML4-ALK rearrangements and EGFR mutations. \"    ///    These findings should assist clinicians in assessing the likelihood of EML4-ALK rearrangements and EGFR mutations and understanding their biological implications in NSCLC. '), ('7553', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '24811481', '16', 'thyroid nodule;papillary carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Seventeen genetic alterations (BRAF, KRAS, HRAS, and NRAS mutations, PAX8-PPARG and RET-PTC rearrangements) were evaluated by multiplex polymerase chain reaction and liquid bead array cytometry in 769 FNAs that met inclusion criteria.     ///    \"The posttest probability of thyroid cancer was 100% for nodules positive for BRAF or RET-PTC, 70% for RAS or PAX8-PPARG, and 88% for molecular cytology overall. \"'), ('7554', 'RET_PTC1', '', 'RET', 'PTC1', '12679489', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PP2 prevented serum-independent growth of RET/PTC1-transformed NIH3T3 fibroblasts and of TPC1 and FB2, two human papillary thyroid carcinoma cell lines that carry spontaneous RET/PTC1 rearrangements.     ///    PP2 blocked in vivo phosphorylation and signaling of the RET/PTC1 oncoprotein.     ///    \"Here, we show that 4-amino-5-(4-chloro-phenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine) (PP2), another pyrazolopyrimidine, blocks the enzymatic activity of the isolated RET kinase and RET/PTC1 oncoprotein at IC(50) in the nanomolar range. \"'), ('7555', 'P27_KIP1', '', 'P27', 'KIP1', '10411338', '16', 'astrocytoma', '', '', '', '', '', '', '', '', 'Although rearrangements and mutations of p27/kip1 are extremely rare events, p27 levels are reduced and associated with a poor prognosis in many human carcinomas.     ///    Proteasome-dependent degradation of p27/kip1 in gliomas..     ///    \" p27/kip1 regulates the G1-S transition of the cell cycle by inhibiting cyclin D-CDK4, cyclin E-CDK2, and cyclin A-CDK2. \"'), ('7556', 'RET_PTC1', '', 'RET', 'PTC1', '21070478', '16', 'trabecular adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF(V600E) mutation was absent but RET/PTC1 rearrangement was found in only two (6.7%) cases of WDT-UMP. '), ('7557', 'SYT_SSX', 'p11.2;q11.2 / ', 'SYT', 'SSX', '10824918', '16', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Association of SYT-SSX fusion types with proliferative activity and prognosis in synovial sarcoma..     ///    These data suggested that SYT-SSX fusion type is associated with tumor cell proliferative activity and prognosis of patients who have SS.. '), ('7558', 'DMD_BMD', '', 'DMD', 'BMD', '7897627', '16', 'Duchenne and Becker muscular dystrophy\r\r', 'PCR', '', '', '', '', '', '', '', 'Thus the distribution of deletions in our DMD/BMD patients differs from that previously reported. '), ('7559', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '12665646', '16', 'thyroid nodule;papillary carcinoma;thyloid cancer;leukemia;sarcoma\r\r', '', '', '', '', 'Receptor', '', '', '', 'For instance, mutations of the gsp and thyroid-stimulating hormone receptor genes are associated with benign hyperfunctioning thyroid nodules and adenomas while alterations of other specific genes, such as oncogenic tyrosine kinase alterations (RET/PTC, TRK) in papillary carcinoma and the newly discovered PAX8/peroxisome proliferator-activated receptor gamma rearrangement, are distinctive features of cancer. '), ('7560', 'TRK_T1', '', 'TRK', 'T1', '8398895', '16', '', '', '', '', '', '', '', '', '', ' The TRK-T1 oncogene, isolated from a human thyroid carcinoma, represents a rearranged form of the high affinity nerve growth factor (NGF) receptor encoded by the NTRK1 gene.     ///    \"We have investigated the effect of the TRK-T1 oncogene in PC12 cells, a model system for studying neuronal differentiation and the mechanism of action of NGF. \"    ///    \"Here, we report that, in PC12 cells, the TRK-T1 oncogene has a differentiating effect that resembles that of NGF and requires the phosphorylation of the oncoprotein. \"    ///    Expression of TRK-T1 oncogene induces differentiation of PC12 cells.. '), ('7561', 'RET_PTC', '', 'RET', 'PTC', '15277225', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC.     ///    The low mitogenic activity of RET point mutants paralleled their reduced kinase activity compared to RET/PTC.     ///    \"We show that the various RET point mutants, but not wild-type RET, scored constitutive kinase activity and exerted mitogenic effects for thyroid PC Cl 3 cells, albeit at significantly lower levels compared to RET/PTC1. \"'), ('7562', 'DUX4_CIC', '', 'DUX4', 'CIC', '24723486', '16', 'ewing sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', '', '', 'Expression profiling validated by q-PCR revealed a distinct gene signature associated with CIC-DUX4 fusion, with upregulation of ETS transcription factors (ETV4, ETV1, and ETV5) and WT1, among top overexpressed genes compared to ES, other sarcomas and normal tissue.     ///    Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities..     ///    \"Immunohistochemically, CIC-DUX4 sarcomas showed membranous CD99 positivity in 18 (86%) cases, but only 5 (24%) with a diffuse pattern, while WT1 and FLI1 were strongly positive in all cases. \"    ///    \"In conclusion, the distinct gene signature and immunoprofile of CIC-DUX4 sarcomas suggest a distinct pathogenesis from ES. \"    ///     Round cell sarcomas harboring CIC-DUX4 fusions have recently been described as highly aggressive soft tissue tumors of children and young adults. ');
INSERT INTO `ChimerPub_dump` VALUES ('7563', 'RAC1_NADPH', '', 'RAC1', 'NADPH', '21660950', '16', '', '', '', '', '', '', '', '', '', 'One of the central roles of Rac1-NADPH oxidase is actin cytoskeletal rearrangement, which is essential for cell spreading and migration.     ///    EGF-induced ERK-activation downstream of FAK requires rac1-NADPH oxidase..     ///    We found that Rac1-NADPH oxidase enhanced the phosphorylation of FAK at Y397. '), ('7564', 'RET_ELKS', '', 'RET', 'ELKS', '15771616', '16', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'More than 10 rearranged forms of RET, referred to as RET/PTC 1-9, ELKS/RET and RFP/RET, have been cloned from sporadic and radiation-associated papillary thyroid carcinomas. '), ('7565', 'CFL1_ADF', '', 'CFL1', 'ADF', '16530787', '16', '', '', '', '', '', '', '', '', '', 'These effects are linked to rearrangements of interprotomer contacts, changes in the mean twist, and filament destabilization by ADF/cofilin.     ///    Our data suggest that ADF/cofilins play an active role in establishing new interprotomer interfaces in F-actin that substitute for disrupted (as in TMR-actin and mutant actin) or weakened (as in ADP-actin) longitudinal contacts in filaments..     ///     ADF/cofilins are abundant actin binding proteins critical to the survival of eukaryotic cells.     ///    \"Most ADF/cofilins bind both G and F-actin, sever the filaments and accelerate their treadmilling. \"'), ('7566', 'RET_PTC', '', 'RET', 'PTC', '9764818', '16', 'congenital megacolon;multiple endocrine neoplasia;thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Somatic rearrangements of RET, designated RET/PTCs, have been frequently detected in papillary thyroid carcinomas. '), ('7567', 'RET_PTC', '', 'RET', 'PTC', '18546890', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Genomic alternations, such as RET/PTC and PAX8-PPARgamma1 rearrangements and a mutation in the BRAF gene, play an oncogenic role by preventing thyroid fetal cells from differentiating. '), ('7568', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23555854', '16', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'As a result, TDRD1 becomes transcriptionally activated in TMPRSS2:ERG-positive prostate cancer.     ///    Tudor domain-containing protein 1 gene (TDRD1) was reported to be differentially expressed between TMPRSS2:ERG-negative and TMPRSS2:ERG-positive prostate cancer.     ///    \"Accordingly, demethylation of the TDRD1 promoter in TMPRSS2:ERG-negative prostate cancer cells by DNA methyltransferase inhibitors resulted in TDRD1 induction. \"'), ('7569', 'CD18_CD11B', '', 'CD18', 'CD11B', '7836771', '16', 'pulmonary inflammation', '', '', '', '', '', '', '', '', 'We show that induction of IL-1 beta by fibrin is mediated partly by the integrin receptor CD11b/CD18 and modulated by cytoskeletal rearrangement. '), ('7570', 'EML4_ALK', '', 'EML4', 'ALK', '25653542', '16', 'lung cancer;adenocarcinoma;mesothelioma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One of these new cell lines bears EML4-ALK rearrangement variant 2, two lung cancer cell lines bear different KRAS mutations at codon 12, and known single nucleotide polymorphism variants were identified in these cell lines. '), ('7571', 'RET_PTC', '', 'RET', 'PTC', '17195637', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET rearrangement was detected in 9 (12%): RET/PTC1--5, RET/PTC3--2, unspecified RET/PTC--1 and delta RET/PTC--1.     ///    [Frequency of RET/PTC rearrangement and somatic BRAF mutation in papillary thyroid cancer]..     ///    Younger tumor patients were mostly prone to RET/PTC rearrangement (p = 0.08). '), ('7572', 'EML4_ALK', '', 'EML4', 'ALK', '23733083', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EGFR activating mutations (exons 18 to 21) and EML4-ALK rearrangement are clinically important markers able to select NSCLC patients which benefit from EGFR or ALK tyrosine kinase inhibitors (gefitinib, erlotinib, crizotinib). '), ('7573', 'EML4_ALK', '', 'EML4', 'ALK', '26520640', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We prospectively addressed whether EGFR and KRAS mutations, EML4-ALK, ROS1 and RET rearrangements, or wild-type (WT), affects radiosurgery outcomes and overall survival (OS) in non-small cell lung cancer (NSCLC) patients with brain metastases (BM). '), ('7574', 'RET_PTC', '', 'RET', 'PTC', '24811481', '16', 'thyroid nodule;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Seventeen genetic alterations (BRAF, KRAS, HRAS, and NRAS mutations, PAX8-PPARG and RET-PTC rearrangements) were evaluated by multiplex polymerase chain reaction and liquid bead array cytometry in 769 FNAs that met inclusion criteria.     ///    \"The posttest probability of thyroid cancer was 100% for nodules positive for BRAF or RET-PTC, 70% for RAS or PAX8-PPARG, and 88% for molecular cytology overall. \"'), ('7575', 'WHSC1_NSD3', 't(5;11) / ', 'WHSC1', 'NSD3', '17589499', '16', 'lung cancer;multiple myeloma\r\r', '', '', '', '', '', '', '', '', ' Nuclear receptor-binding SET domain protein 1 (NSD1) prototype is a family of mammalian histone methyltransferases (NSD1, NSD2/MMSET/WHSC1, NSD3/WHSC1L1) that are essential in development and are mutated in human acute myeloid leukemia (AML), overgrowth syndromes, multiple myeloma and lung cancers. '), ('7576', 'STAT5_IL7', '', 'STAT5', 'IL7', '24766814', '16', '', '', '', '', '', '', '', '', '', 'This trajectory revealed nascent fractions of B cell progenitors and aligned them with developmentally cued regulatory signaling including IL-7/STAT5 and cellular events such as immunoglobulin rearrangement, highlighting checkpoints across which regulatory signals are rewired paralleling changes in cellular state. '), ('7577', 'RET_PTC', '', 'RET', 'PTC', '15356022', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, 17 of the 48 Ukrainian cases showed expression of the RET tyrosine kinase region, indicating the existence of RET/PTC rearrangements. '), ('7578', 'EML4_ALK', '', 'EML4', 'ALK', '23386065', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ALK rearrangement results in an aberrant EML4-ALK fusion oncogene that constitutively activates ALK tyrosine kinase, resulting in inhibition of apoptosis and promotion of tumor cell proliferation. '), ('7579', 'RET_PTC', '', 'RET', 'PTC', '16757533', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC Rearrangement--a link between Hashimoto\'s thyroiditis and thyroid cancer...or not.. '), ('7580', 'TEL_AML1', '', 'TEL', 'AML1', '16898416', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The Circozyme was tested targeting the mRNA of the most common genetic rearrangement in pediatric acute lymphoblastic leukemia TEL/AML1 (ETV6/RUNX1). '), ('7581', 'P53_MDM2', '', 'P53', 'MDM2', '12915590', '16', '', '', '', 'Oncogene', '', '', '', '', '', 'UV-radiation caused rapid rearrangements of PML nuclear bodies and promoted PML-p53 and PML-Mdm2 complex formation, coinciding with p53 stabilization and preceding p53-Mdm2 interaction suggesting temporally distinct complexes. '), ('7582', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '24122810', '16', 'cholangiocarcinoma;gastric cancer;hepatocellular carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The rearrangements were mutually exclusive with KRAS/BRAF mutations. '), ('7583', 'TEL_AML1', '', 'TEL', 'AML1', '12086872', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Distinct expression profiles identified each of the prognostically important leukemia subtypes, including T-ALL, E2A-PBX1, BCR-ABL, TEL-AML1, MLL rearrangement, and hyperdiploid >50 chromosomes. '), ('7584', 'C11_C10', '', 'C11', 'C10', '12737584', '16', '', '', '', '', '', '', '', '', '', 'Key steps include (a) a zirconium-catalyzed carboalumination reaction to construct the C10-C11 trisubstituted alkene, (b) a Cu(I)-mediated 1,2-metalate rearrangement to construct the C6-C7 trisubstituted alkene, (c) a Sharpless kinetic resolution to secure the (4R)-stereochemistry, (d) generation of a 5-stannyl-2,3-dihydrofuran by Mo-catalyzed cycloisomerization of a homopropargylic alcohol, and (e) construction of the hydroxyfuranone ring by photooxidation of a silylfuran.. '), ('7585', 'RET_PTC1', '', 'RET', 'PTC1', '19956182', '16', 'thyroid carcinoma;papillary carcinoma;breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'most early cases were solid PTCs with RET-PTC3 rearrangements, later cases were classical PTCs with RET-PTC1 rearrangements. '), ('7586', 'RET_PTC', '', 'RET', 'PTC', '18757433', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements preferentially occurred in papillary thyroid cancer among atomic bomb survivors exposed to high radiation dose..     ///    Papillary thyroid cancer subjects harboring RET/PTC rearrangements developed this cancer earlier than did cases with BRAF(V600E) mutation (P = 0.03).     ///    RET/PTC rearrangements showed significantly increased frequency with increased radiation dose (P(trend) = 0.002).     ///    \"In childhood papillary thyroid cancer, regardless of history of radiation exposure, RET/PTC rearrangements are a major event. \"    ///    \"To clarify which gene alteration, chromosome aberration, or point mutation preferentially occurs in radiation-associated adult-onset papillary thyroid cancer, we have performed molecular analyses on RET/PTC rearrangements and BRAF(V600E) mutation in 71 papillary thyroid cancer cases among atomic bomb survivors (including 21 cases not exposed to atomic bomb radiation), in relation to radiation dose as well as time elapsed since atomic bomb radiation exposure. \"    ///    These results suggest that RET/PTC rearrangements play an important role in radiation-associated thyroid carcinogenesis..     ///    \"Conversely, in adult-onset papillary thyroid cancer among the general population, the most common molecular event is BRAF(V600E) point mutation, not RET/PTC rearrangements. \"'), ('7587', 'RET_PTC', '', 'RET', 'PTC', '20526288', '16', 'thyroid carcinoma;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'One encapsulated carcinoma showed a PAX8/PPARgamma rearrangement, whereas two infiltrative tumors harbored RET/PTC fusions. '), ('7588', 'MTB_MAP4', '', 'MTB', 'MAP4', '22270553', '16', '', '', '', '', '', '', '', '', '', 'The MTB-MAP4 binding induces conformational rearrangements of ?- and ?-tubulin that promote an overall stabilization of MTs.     ///    The changes in the HDX levels indicate that MTB-MAP4 may bind to both the outside and the luminal surfaces of the MTs and that Taxol reduces both of these interactions. '), ('7589', 'RET_PTC', '', 'RET', 'PTC', '18283163', '16', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' To develop a reproducible orthotopic model of papillary thyroid carcinoma for the BRAF(V600E) mutation (GenBank NM004333) and an RET/PTC rearrangement (GenBank M31213) that recapitulates the clinical picture in humans.     ///    An orthotopic model of papillary thyroid carcinoma was successfully established in nude mice using BRAF-mutated and RET/PTC1-rearranged cell lines.     ///    Either BRAF-mutated or RET/PTC1-rearranged papillary thyroid carcinoma cells were injected into the thyroid glands of athymic female nude mice.     ///    All the BRAF-mutated cell lines and 1 selected RET/PTC1-rearranged cell line were 100% tumorigenic in mice. '), ('7590', 'RET_PTC', '', 'RET', 'PTC', '15859312', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Searching for RET/PTC rearrangements and BRAF V599E mutation in thyroid aspirates might contribute to establish a preoperative diagnosis of papillary thyroid carcinoma..     ///    \"58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement. \"'), ('7591', 'SMRT_NCOR1', 't(15;17)  / ', 'SMRT', 'NCOR1', '10882118', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The recruitment of nuclear receptor corepressor SMRT/N-CoR and subsequent repression of retinoid target genes is critical for the oncogenic function of PML-RARalpha. '), ('7592', 'RET_PTC', '', 'RET', 'PTC', '22150560', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Altogether, 57 alterations were found in 56 PTCs (55%) corresponding to V600E BRAF in 20.3%, RAS mutations in 12.6%, RET/PTC 1 in 11.6%, RET/PTC 3 in 8.7%, and rearrangement of NTRK in 1.9%.     ///    RET/PTC (1 and 3) was significantly associated with extrathyroid extension (ET) and lymph node metastasis (es) (LNM).     ///    There is a relation between the presence of RET/PTC (1 and 3) and the histological and clinical short-term aggressiveness of PTC in the population of young adults.     ///    \"Classic-type PTC was associated with a larger prevalence of alterations, predominantly BRAF and RET/PTC, whereas the follicular variant was chiefly associated with RAS. \"    ///    RET/PTC 1 and 3 was associated with short-term disease dissemination (cervical lymph node recurrences and distant metastases) in young adults (p=0.001). '), ('7593', 'SYT4_SSX2', 'p11.2;q11.2 / ', 'SYT4', 'SSX2', '19837269', '16', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4. '), ('7594', 'SYT4_SSX4', 'p11.2;q11.2 / ', 'SYT4', 'SSX4', '19837269', '16', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4. '), ('7595', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '24955024', '16', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', '', '', '', 'Fine-needle aspiration (FNA) of thyroid nodules can permit to detect many genetic mutations and other molecular alterations, including RAS and BRAF point mutations, PAX8/peroxisome proliferator-activated receptor (PPAR)? and \"RET/PTC rearrangements, occurring in thyroid papillary and follicular carcinomas\" (more than 70% of cases), which can be used successfully to improve the diagnosis \"and the management of patients with thyroid nodules\". '), ('7596', 'SCF_IL3', 'p13;q11 / ', 'SCF', 'IL3', '16105979', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Expression of MN1-TEL enhanced the growth of myeloid progenitors in an interleukin 3/stem cell factor (IL-3/SCF)-dependent manner in vitro whereas 10% of MN1-TEL-expressing mice developed altered myelopoiesis with severe anemia after long latency. '), ('7597', 'BCR_ABL1', '', 'BCR', 'ABL1', '20445328', '16', 'essential thrombocythemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Major/minor BCR-ABL1 rearrangement and JAK2 V617F mutation were not detected. '), ('7598', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '20430445', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'A novel case of acute myeloid leukemia with RUNX1/RUNX1T1 rearrangement in Klinefelter syndrome.. '), ('7599', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '24464319', '16', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Class II mutations: 24 (17.9?%), 19 (14.2?%), and 9 (6.7?%) children had PML-RARA, RUNX1-RUNX1T1, and CBFB-MYH11 transcripts, respectively. '), ('7600', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '17160155', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Molecular factors such as rearrangements of genes RET/PTC, RAS mutations and fusion of, paired box and 8/peroxisome proliferator-activated receptor gamma (PAX8/PPARgamma) are also involved in thyroid cancer prognosis, while some others: human Pituitary- Tumor Transforming Gene (e.g. '), ('7601', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '22025082', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Submicroscopic deletion of RUNX1T1 gene confirmed by high-resolution microarray in acute myeloid leukemia with RUNX1/RUNX1T1 rearrangement.. '), ('7602', 'RET_PTC3', '', 'RET', 'PTC3', '11861385', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PP1 prevented the growth of two human papillary thyroid carcinoma cell lines that carry spontaneous RET/PTC1 rearrangements and blocked anchorage-independent growth and tumorigenicity in nude mice of NIH3T3 fibroblasts expressing the RET/PTC3 oncogene.     ///    \"Furthermore, RET/PTC3-transformed cells treated with 5 microM of PP1 lost proliferative autonomy and showed morphological reversion. \"'), ('7603', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '24433507', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'An effect to relieve the blockade (inhibition) of PML/RARA-mediated RA dependent promyelocytic differentiation, and retinoic acid in APL therapy (see Figure in the full text, George Zhu, 1991). '), ('7604', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '23927885', '16', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Two series of consecutive TTNB with 18-gauge needles performed before and after the publication of the ATS/ERS/IASLC guidelines, were retrospectively compared regarding their adequacy for histological sub-typing and EGFR/KRAS mutations and ALK rearrangement testing. '), ('7605', 'CD8_CD4', '', 'CD8', 'CD4', '2521355', '16', '', '', '', '', '', '', '', '', '', ' We have investigated the diversity and repertoire of human TCR delta chain variable gene segments in the human peripheral blood CD4- CD8- (double-negative) population, using rearrangement and expression studies and sequence analyses. '), ('7606', 'RET_PTC3', '', 'RET', 'PTC3', '18364248', '16', 'pleural effusion', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We found that a human MPM cell line, EHMES-10, expressed RET/PTC3 oncogenic rearrangement and a large amount of VEGF. '), ('7607', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19096755', '16', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Despite patients with FIP1-like-1-platelet-derived growth factor alpha (FIP1L1-PDGFRA) associated HES (myeloid neoplasms associated with PDGFRA rearrangement) have been shown to respond to low-dose imatinib with a complete and durable hematological and cytogenetic remission, influences of imatinib on clinical manifestations related to hypereosinophilia heart involvement are variable. '), ('7608', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '19147628', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The molecular pathology of thyroid cancer is now better understood because of our ability to identify RET/PTC rearrangements and BRAF mutations in the aetiopathogenesis of the large majority of PTCs and the high prevalence of RAS mutations and PAX8/PPARgamma rearrangements in follicular patterned carcinomas (FTCs and follicular variant of PTCs). '), ('7609', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '17069596', '16', 'esophageal cancer', '', '', '', '', '', '', '', '', 'Multiple leiomyomas are distinguished from esophageal leiomyomatosis, an extremely rare condition, which is associated with Alport syndrome, showing deletions and rearrangements of the COL4A5/COL4A6 gene.     ///    Genetic analysis ruled out a deletion of the COL4A5/COL4A6 locus on chromosome X that is linked with Alport syndrome-diffuse leiomyomatosis. '), ('7610', 'CD8_CD4', '', 'CD8', 'CD4', '10907641', '16', 'HIV infection; severe combined immunodeficiency\r\r', '', '', '', '', '', '', '', '', 'These T cells showed CD4/CD8 ratios similar to those observed in human peripheral blood lymphocytes and had a broad repertoire of rearranged T-cell receptor genes. '), ('7611', 'RET_PTC', '', 'RET', 'PTC', '15771616', '16', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'More than 10 rearranged forms of RET, referred to as RET/PTC 1-9, ELKS/RET and RFP/RET, have been cloned from sporadic and radiation-associated papillary thyroid carcinomas. '), ('7612', 'TPR_NTRK1', '', 'TPR', 'NTRK1', '9172002', '16', '', '', 'Kinase', '', '', '', '', 'KB', '', 'In a previous study, we showed that two tumors carrying the TPR/NTRK1 rearrangement contained structurally different oncogenes named TRK-T1 and TRK-T2.     ///    \"In this paper, we report (1) the cDNA structure of TRK-T2, (2) evidence that TRK-T2 is generated by different rearrangements in two thyroid tumors, and (3) a detailed analysis of the three different TPR/NTRK1 rearrangements. \"'), ('7613', 'SLC34A2_ROS1', '', 'SLC34A2', 'ROS1', '25691052', '16', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Although high response rates and disease control have been observed in lung cancer patients bearing rearranged ROS1 tumors (ROS1+) treated with the kinase inhibitor crizotinib, many of these patients eventually relapse.To identify mechanisms of resistance to ROS1 inhibitors we generated resistant cells from HCC78 lung cancer cells bearing the SLC34A2-ROS1 rearrangement. '), ('7614', 'RET_PTC', '', 'RET', 'PTC', '24955024', '16', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Fine-needle aspiration (FNA) of thyroid nodules can permit to detect many genetic mutations and other molecular alterations, including RAS and BRAF point mutations, PAX8/peroxisome proliferator-activated receptor (PPAR)? and \"RET/PTC rearrangements, occurring in thyroid papillary and follicular carcinomas\" (more than 70% of cases), which can be used successfully to improve the diagnosis \"and the management of patients with thyroid nodules\".     ///    \"Testing FNA samples for a panel of mutations that typically includes RAS, BRAF, PAX8/PPAR? and RET/PTC could permit to achieve the biggest diagnostic impact. \"'), ('7615', 'TEL_AML1', 't(12;21) / ', 'TEL', 'AML1', '12506024', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' TEL/AML1-positive childhood acute lymphoblastic leukemias (ALLs) generally have low-risk features, but still about 20% of patients relapse.     ///    \"Our initial molecular genetic analyses in 2 off-treatment relapses suggested that the initial and relapse clones represent different subclones that evolved from a common TEL/AML1-positive, treatment-resistant precursor. \"    ///    \"In order to further elaborate on this hypothesis, we studied 2 patients with late systemic relapses of their TEL/AML1-positive ALL (41 months and 49 months after initial diagnosis, respectively) who had distinct clonal antigen receptor gene rearrangements at diagnosis and relapse. \"    ///    The matching genomic TEL/AML1 breakpoints of the initial and the relapse clones in these patients confirmed their origin from a common progenitor cell. '), ('7616', 'IGH_CRLF2', '', 'IGH', 'CRLF2', '22368272', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' As controversy exists regarding the prognostic significance of genomic rearrangements of CRLF2 in pediatric B-precursor acute lymphoblastic leukemia (ALL) classified as standard/intermediate-risk (SR) or high-risk (HR), we assessed the prognostic significance of CRLF2 mRNA expression, CRLF2 genomic lesions (IGH@-CRLF2, P2RY8-CRLF2, CRLF2 F232C), deletion/mutation in genes frequently associated with high CRLF2 expression (IKZF1, JAK, IL7R), and minimal residual disease (MRD) in 1061 pediatric ALL patients (499 HR and 562 SR) on COG Trials P9905/P9906. '), ('7617', 'BCL2_IGH', '', 'BCL2', 'IGH', '9592988', '16', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Persistent polyclonal B lymphocytosis with multiple bcl-2/IgH rearrangements: a benign disorder.. '), ('7618', 'DMD_BMD', '', 'DMD', 'BMD', '8733896', '16', 'duchenne and Becker muscular dystrophy\r\r', 'PCR', '', '', '', '', '', '', '', ' The dystrophin gene deletion patterns of Duchenne/Becker dystrophy were investigated in 57 DMD, 7 BMD and 1 DMD-BMD intermediate muscular dystrophy patients. '), ('7619', 'RET_PTC1', '', 'RET', 'PTC1', '23108047', '16', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' CCDC6 is rearranged in approximately 20% of papillary thyroid carcinomas and some lung cancers participating in the formation of PTC1/ret proto-oncogene oncogene. '), ('7620', 'LARG_IGF1R', '', 'LARG', 'IGF1R', '11724822', '16', '', '', 'Kinase', '', '', '', '', '', '', 'Taken together, these results indicate that IGF-1 activates the Rho/Rho-kinase pathway via a LARG/IGF-1 receptor complex and thereby regulates cytoskeletal rearrangements.. '), ('7621', 'RET_PTC', '', 'RET', 'PTC', '10891661', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', '2) the relevant role played by RET/PTC ret proto-oncogene activating rearrangements, in the development of radiation-associated thyroid tumors originated after therapeutic radiation (mainly PTC 1) or the atomic accident of Chernobyl (mainly PTC 3) and 3) suggest that the patients who develop thyroid tumors after a history of irradiation, show a genomic instability consisting in a DNA repair defect.. '), ('7622', 'RET_PTC1', '', 'RET', 'PTC1', '18414877', '16', 'goiter', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular pathology demonstrated an RET/PTC1 rearrangement in both tumor and non-tumorous tissue harboring thyroiditis. '), ('7623', 'RET_PTC', '', 'RET', 'PTC', '11717536', '16', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular analyses showed a similar prevalence of RET /PTC rearrangements in both groups. '), ('7624', 'PP2A_PP1', '', 'PP2A', 'PP1', '16973434', '16', '', '', '', '', '', '', '', '', '', 'Based on these data, we propose that dephosphorylation of U2 and U5 snRNP components by PP1/PP2A family phosphatases facilitates essential structural rearrangements in the spliceosome during the transition from the first to the second step..     ///    PP1/PP2A phosphatases are required for the second step of Pre-mRNA splicing and target specific snRNP proteins.. '), ('7625', 'RET_PTC', '', 'RET', 'PTC', '19910897', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Specific genetic lesions are associated to each thyroid tumor histotype: BRAF mutations and RET/PTC and TRK oncogenes have been detected in PTC, whereas FTC is characterized by PAX8/PPARgamma rearrangements and RAS mutations. '), ('7626', 'ROS_FIG', '', 'ROS', 'FIG', '16885344', '16', 'brain cancer;glioblastoma multiforme', '', '', '', '', '', '', '', '', 'Here, we show that a glioblastoma-associated, ligand-independent rearrangement product of ROS (FIG-ROS) cooperates with loss of the tumor suppressor gene locus Ink4a;Arf to produce glioblastomas in the mouse. '), ('7627', 'RET_PTC', '', 'RET', 'PTC', '17006850', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The presence of BRAF mutation is related to the specific gene expression signature, different than in cancer cases showing RET/PTC rearrangement or no known initiating mutation..     ///    \"Moreover, BRAF mutation is described more often in older patients, whereas in young patients RET/PTC rearrangements dominate. \"'), ('7628', 'RET_PTC1', '', 'RET', 'PTC1', '12943231', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the present study, we investigated the effects of RPI-1 in the human papillary thyroid carcinoma cell line TPC-1 spontaneously harboring the RET/PTC1 rearrangement.     ///    We previously described the inhibitory activity of the 2-indolinone derivative RPI-1 (formerly Cpdl) on the tyrosine kinase activity and transforming ability of the products of the RET/PTC1 oncogene exogenously expressed in murine cells. '), ('7629', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '25973127', '16', 'squamous cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'After failure to chemotherapy, genotype testing showed wild-type EGFR/KRAS and ALK rearrangement positive. '), ('7630', 'RET_PTC1', '', 'RET', 'PTC1', '20424115', '16', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Role of H2O2 in RET/PTC1 chromosomal rearrangement produced by ionizing radiation in human thyroid cells..     ///    \"Pretreatment of cells with catalase, a scavenger of H(2)O(2), significantly decreased RET/PTC1 rearrangement formation. \"    ///    \"Therefore, we investigated the implication of H(2)O(2) in the generation of RET/PTC1 rearrangement after X-ray exposure. \"    ///    This study shows for the first time that H(2)O(2) is able to cause RET/PTC1 rearrangement in thyroid cells and consequently highlights that oxidative stress could be responsible for the occurrence of RET/PTC1 rearrangement found in thyroid lesions even in the absence of radiation exposure..     ///    \"Finally, RET/PTC chromosomal rearrangement was detected in HTori-3.1 cells after exposure of cells to H(2)O(2) (25 micromol/L), at a dose that did not affect the cell viability. \"    ///    \"By using the human thyroid cell line HTori-3, previously found to produce RET/PTC1 after gamma-irradiation, we showed that H(2)O(2), generated during a 5 Gy X-ray irradiation, causes DNA double-strand breaks and contributes to RET/PTC1 formation. \"'), ('7631', 'RET_PTC', '', 'RET', 'PTC', '21142662', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Common somatic mutations in BRAF, rearranged in transformation/papillary thyroid carcinomas (RET/PTC) and neurotrophin receptor-tyrosine kinase (NTRK) also do not account for the gender disparity in thyroid cancer. '), ('7632', 'PSK_GEF', '', 'PSK', 'GEF', '8643598', '16', '', '', '', '', '', '', '', '', '', 'As the LAR PTPase localizes to the ends of focal adhesions, we propose that LAR and the Trio GEF/PSK may orchestrate cell-matrix and cytoskeletal rearrangements necessary for cell migration.. '), ('7633', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '22875627', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', 'Receptor', '', '', '', 'Although IKZF1 deletions were significantly associated with the P2RY8-CRLF2 rearrangement, their prognostic value was found to be independent from this association. '), ('7634', 'BCR_ABL1', '', 'BCR', 'ABL1', '24766374', '16', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'After ponatinib therapy, the T315I mutation burden decreased down to undetectable levels and the BCR-ABL1 transcripts showed a very low value (0.011%).     ///    \"At the time of mutational analysis, during dasatinib treatment, the T315I clone was 100% and the quantification of BCR-ABL1 was 18%. \"'), ('7635', 'RET_PTC1', '', 'RET', 'PTC1', '10380889', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The RET/PTC1 oncogene, a rearranged form of the RET proto-oncogene, has been reported to be associated with human papillary thyroid carcinomas.     ///    \"Our study showed that RET/PTC1 not only increased proliferation of thyrocytes, it also altered morphogenesis and differentiation. \"    ///    These findings provide a model for the role of RET/PTC1 in the formation of abnormal follicles with reduced iodide uptake ability observed in human papillary thyroid carcinoma..     ///    We have shown that targeted expression of RET/PTC1 in the thyroid gland leads to the development of thyroid carcinomas in transgenic mice with histologic and cytologic similarities to human papillary thyroid carcinoma.     ///    Early cellular abnormalities induced by RET/PTC1 oncogene in thyroid-targeted transgenic mice..     ///    \"To further investigate how RET/PTC1 expression contributes to the pathogenesis of papillary thyroid tumor, the time of tumor onset and the early phenotypic consequences of RET/PTC1 expression in thyrocytes were determined. \"'), ('7636', 'ZNF287_SPI1', '', 'ZNF287', 'SPI1', '25288879', '16', 'multiple myeloma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Application of our pipeline to whole-genome MP and PE sequencing data from three multiple myeloma cell lines (KMS11, MM.1S, and RPMI8226) recovered known SVs, such as heterozygous TRAF3 deletion, as well as a novel experimentally validated SPI1 - ZNF287 inter-chromosomal rearrangement in the RPMI8226 cell line. '), ('7637', 'RET_PTC', '', 'RET', 'PTC', '18235983', '16', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our results add to the evidence that, in contrast to follicular variants of oncoPTCs, predominantly follicular oncocytic thyroid tumors harbor neither RET/PTC rearrangements nor BRAF mutations.     ///    Molecular characterization of oncocytic thyroid malignancies for RET/PTC or BRAF genetic alterations may help with (preoperative) classification and prognostic evaluation of these tumors..     ///    \"In oncocytic (H?rthle cell, oxyphilic) thyroid tumors, the presence of RET/PTC rearrangements is associated with either the conventional papillary histotype or the \"\"solid\"\" H?rthle cell tumors, whereas all predominantly follicular oncocytic carcinomas do not harbor RET/PTC chimeras. \"'), ('7638', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24510842', '16', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'In conclusion, our study identifies an association of NBS1 expression with surrogates of genomic instability in prostate cancer including TMPRSS2-ERG rearrangements and PTEN deletion. '), ('7639', 'RET_PTC', '', 'RET', 'PTC', '22494995', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, the molecular tests did not reveal BRAF mutations, RET/PTC rearrangement, APC mutation, or KRAS mutation.. '), ('7640', 'MEK1_ERK', '', 'MEK1', 'ERK', '15923628', '16', '', '', '', '', '', '', '', '', '', 'Our data further show that MP1, p14, and MEK1 serve to inhibit Rho/Rho kinase functions necessary for the turnover of adhesion structures and cell spreading and reveal a signal-channeling function for a MEK1/ERK scaffold in orchestrating cytoskeletal rearrangements important for cell motility.. '), ('7641', 'IGHJ_BCL2', '', 'IGHJ', 'BCL2', '21375524', '16', 'follicular lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'BCL2(+) and CD10(+) expression and BCL2/IGHJ@ rearrangement were less frequently observed in cutaneous FL. '), ('7642', 'RET_PTC', '', 'RET', 'PTC', '19060924', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Given that XB130 is a thyroid-specific tyrosine kinase substrate, we asked whether it is targeted by RET/PTC, a genetically rearranged, constitutively active, thyroid-specific tyrosine kinase that plays a pathogenic role in papillary thyroid cancer.     ///    We identified tyrosine 54 of XB130 as the major target of RET/PTC-mediated phosphorylation and a critical binding site for the SH2 domains of p85alpha.     ///    \"Importantly, downregulation of XB130 in TPC1 papillary thyroid cancer cells, harboring the RET/PTC1 kinase, strongly reduced Akt activity without altering ERK1/2 phosphorylation, and concomitantly inhibited cell-cycle progression and survival in suspension. \"    ///    \"RET/PTC induced robust tyrosine phosphorylation of XB130, which promoted its subsequent association with the p85alpha subunit of phosphatidylinositol 3-kinase (PI 3-kinase). \"    ///    \"In conclusion, XB130 is a novel substrate of the RET/PTC kinase that links RET/PTC signaling to PI 3-kinase activation, and thereby plays an important role in sustaining proliferation and survival of thyroid tumor cells.. \"    ///    \"XB130, a tissue-specific adaptor protein that couples the RET/PTC oncogenic kinase to PI 3-kinase pathway.. \"'), ('7643', 'P210_P190', '', 'P210', 'P190', '12067277', '16', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The rate of coexpression of the p190/p210 transcripts was 5%, which is much lower than in other reports. '), ('7644', 'MAFB_MAF', 't(14;20) / ', 'MAFB', 'MAF', '19013005', '16', 'plasma cell leukemia', '', '', '', '', '', 'Transcription_Factor', '', '', 'We identified 14 upregulated genes, and their downstream consequences in the combined MAFB/C-MAF pathway. '), ('7645', 'MYC_BCL6', '', 'MYC', 'BCL6', '26426741', '16', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Large B cell lymphomas with MYC and BCL6/3q27 rearrangements, designated MYC/BCL6 DHL, are uncommon.     ///    \"Patients with MYC/BCL6 DHL had a poor overall survival, similar to patients with MYC/BCL2 DHL (P = 0.32). \"    ///    \"MYC/BCL6 DHL is an aggressive B cell lymphoma and patients often have an aggressive clinical course and poor prognosis, similar to patients with MYC/BCL2 DHL.. \"    ///    MYC/BCL6 double-hit lymphoma (DHL): a tumour associated with an aggressive clinical course and poor prognosis..     ///    We studied the clinicopathological features and outcome of 13 patients with MYC/BCL6 DHL and compared this group to a group of 83 MYC/BCL2 DHL patients.     ///    \"The clinicopathological features of MYC/BCL6 DHL were similar to MYC/BCL2 DHL, except that MYC/BCL6 DHL had a GCB immunophenotype less often. \"'), ('7646', 'ROS_ALK', '', 'ROS', 'ALK', '24218589', '16', 'cholangiocarcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Using a multidisciplinary approach involving small molecule screening in combination with in vitro and in vivo tumor models, we show that foretinib (GSK1363089) is a more potent ROS1 inhibitor than crizotinib (PF-02341066), an ALK/ROS inhibitor currently in clinical evaluation for lung cancer patients harboring ROS1 rearrangements. '), ('7647', 'TAL1_SIL', '', 'TAL1', 'SIL', '24040098', '16', 'disseminated intravascular coagulation;tumor lysis syndrome', '', '', '', '', '', 'Transcription_Factor', '', '', ' SIL-TAL1 rearrangement is common in T-cell acute lymphoblastic leukemia (T-ALL), however its prognostic implication remains controversial.     ///    These data demonstrate that SIL-TAL1 rearrangement identifies a distinct subtype with inferior outcome which could allow for individual therapeutic stratification for T-ALL patients..     ///    \"To investigate the clinical characteristics and outcome of this subtype in Chinese population, we systemically reviewed 62 patients with newly diagnosed T-ALL, including 15 patients with SIL-TAL1 rearrangement. \"    ///    SIL-TAL1 rearrangement is related with poor outcome: a study from a Chinese institution..     ///    \"Moreover, the SIL-TAL1(+) mice models exerted a tendency of TLS/DIC and seemed vulnerable towards chemotherapy, which further simulated our clinical settings. \"    ///    \"We found that SIL-TAL1(+) T-ALL was characterized by higher white blood cell count (P = 0.029) at diagnosis, predominant cortical T-ALL immunophenotype (P = 0.028) of the leukemic blasts, and a higher prevalence of tumor lysis syndrome (TLS, P<0.001) and disseminated intravascular coagulation (DIC, P<0.001), which led to a higher early mortality (P = 0.011). \"    ///    \"Compared with SIL-TAL1(-) patients, SIL-TAL1(+) patients had shorter relapse free survival (P = 0.007) and overall survival (P = 0.002). \"    ///    \"Our NOD/SCID xenotransplantation model also demonstrated that SIL-TAL1(+) mice models had earlier disease onset, higher leukemia cell load in peripheral blood and shorter overall survival (P<0.001). \"'), ('7648', 'PKNOX1_MEIS1', 't(1;19)  / ', 'PKNOX1', 'MEIS1', '9405651', '16', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In addition, because most motifs bound by Pbx-Meis1/pKnox1 were not bound by Pbx1-Hox complexes, the leukemic potential of Meis1 in myeloid leukemias may involve shifting Pbx proteins from promoters containing Pbx-Hox motifs to those containing Pbx-Meis motifs..     ///    The Meis1/pKnox1-interaction domain in Pbx1 resided predominantly in a conserved N-terminal Pbx domain deleted in E2a-Pbx1. '), ('7649', 'KLK15_KLK1', '', 'KLK15', 'KLK1', '23894413', '16', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', '', '', ' The kallikrein gene family (KLK1-KLK15) is the largest contiguous group of protease genes within the human genome and is associated with both risk and outcome of cancer and other diseases. '), ('7650', 'RET_PTC3', '', 'RET', 'PTC3', '15947106', '16', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Functional clustering of genes with greater than or less than 1.75-fold expression change (86 genes) revealed RET/PTC3-induced regulation of genes with key functions in apoptosis (Ripk3, Tdga), cell-cell signaling (Cdh6, Fn1), cell cycle (Il24), immune and inflammation response (Cxcl10, Scya2, Il6, Gbp2, Oas1, Tap1, RT1Aw2, C2ta, Irf1, Lmp2, Psme2, Prkr), metabolism (Aldob, Ptges, Nd2, Gss, Gstt1), signal transduction (Socs3, Nf1, Jak2, Cpg21, Dusp6, Socs1, Stat1, Stat3, Cish) and transcription (Nr4a1, Junb, Hfh1, Runx1, Foxe1).     ///    \"Genes coding for proteins involved in the immune response and in intracellular signal transduction pathways activated by cytokines and chemokines were strongly represented, indicating a critical role of RET/PTC3 in the early modulation of the immune response.. \"    ///    \"For this purpose, microarray analysis was conducted on PCCL3 cells conditionally expressing the RET/PTC3 oncogene. \"    ///    Gene expression profiling 48 h after activation of RET/PTC3 identified a statistically significant modification of expression of 270 genes. '), ('7651', 'RET_PTC', '', 'RET', 'PTC', '21739166', '16', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Non-overlapping genetic alterations, including BRAF and RAS point mutations, and RET/PTC and PAX8/PPAR? rearrangements, are found in more than 70% of papillary and follicular thyroid carcinomas. '), ('7652', 'RET_PTC', '', 'RET', 'PTC', '11786418', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Whereas the prevalences of RET/PTC1 and RET/PTC3 were almost equal in classic and follicular PTC, all of the TCV-positive cases expressed the RET/PTC3 rearrangement.     ///    \"In conclusion, we postulate that the correlation between the RET/PTC rearrangement type and the aggressiveness of human PTC is related to the efficiency with which the oncogene subtype delivers mitogenic signals to thyroid cells.. \"    ///    We have expressed the two oncogenes in PC Cl 3 rat thyroid epithelial cells and found that RET/PTC3 is endowed with a strikingly more potent mitogenic effect than RET/PTC1.     ///    These findings prompted us to compare RET/PTC3 and RET/PTC1 in an in vitro thyroid model system.     ///    RET/PTC1 and RET/PTC3 are the most prevalent variants.     ///    \"RET tyrosine kinase rearrangements, which represent the most frequent genetic alteration in PTC, lead to the recombination of RET with heterologous genes to generate chimeric RET/PTC oncogenes. \"'), ('7653', 'INV_DUP', '', 'INV', 'DUP', '22965494', '16', '', '', '', '', '', '', '', '', '', 'Remarkably, 1,445 disease-associated genes are at risk of undergoing copy-number gain as they map to genomic intervals susceptible to the formation of DUP-TRP/INV-DUP complex rearrangements.     ///    \"We identified 1,551 DTIP-LCRs that could facilitate DUP-TRP/INV-DUP formation. \"'), ('7654', 'RET_PTC1', '', 'RET', 'PTC1', '23797723', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In 60 cases of PTC with 2 to 4 discrete tumor foci, each focus was tested for BRAF, NRAS, HRAS, and KRAS point mutations and RET/PTC1 and RET/PTC3 rearrangements and analyzed for various histopathologic features.     ///    \"Overall, BRAF mutations were found in 43% of tumors, RAS in 27%, and RET/PTC in 2%. \"'), ('7655', 'NR2C_NR1', '', 'NR2C', 'NR1', '20164358', '16', '', '', '', '', '', '', '', '', '', 'We suggest that the higher efficacy of DCS at NR1/NR2C receptors involves structural rearrangements at the dimer interface and an effect on NR1/NR2C receptor pregating conformational changes..     ///    \"To relate the structural rearrangements to receptor gating, we recorded single-channel currents from outside-out patches containing a single active NR1/NR2C receptor. \"    ///    Structural determinants of D-cycloserine efficacy at the NR1/NR2C NMDA receptors..     ///    DCS increased the mean open time and open probability of NR1/NR2C receptors compared with glycine.     ///    The most pronounced differences were observed in the NR1/NR2C simulation between the orientation of helices F and G of the NR1 subunit.     ///    DCS shows partial agonism at NR1/NR2B but has higher relative efficacy than glycine at NR1/NR2C receptor.     ///    Molecular dynamics (MD) simulations of the NR1/NR2B and NR1/NR2C agonist binding domain dimer suggest only subtle differences in the interactions of DCS with NR1 binding site residues relative to glycine.     ///    Maximum likelihood fitting of a gating model for NR1/NR2C receptor activation to the single-channel data suggests that DCS specifically accelerates the rate constant governing a fast gating step and reduces the closing rate. '), ('7656', 'RET_PTC', '', 'RET', 'PTC', '20001715', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Common genetic alterations found in human papillary thyroid cancer such as RET/PTC rearrangements or the BRAF(V600E) mutation have genetically modified mouse counterparts. '), ('7657', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26344096', '16', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' SPOP mutations and TMPRSS2-ERG rearrangements occur collectively in up to 65% of human prostate cancers. '), ('7658', 'EML4_ALK', '', 'EML4', 'ALK', '25373537', '16', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) inhibitors are effective and useful agents for treating patients who harbor EGFR-TKI-sensitive mutations or EML4-ALK rearrangement.     ///    EGFR mutations and EML4-ALK rearrangement were assessed in all of the patients. '), ('7659', 'RARA_PLZF', 't(15;17)  / ', 'RARA', 'PLZF', '20455087', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Suboptimal RA concentrations or expression of the PLZF/RARA variant allows complete RA-induced differentiation, but neither LIC clearance nor disease remission. '), ('7660', 'TRP_DUP', '', 'TRP', 'DUP', '22965494', '16', '', '', '', '', '', '', '', '', '', 'Remarkably, 1,445 disease-associated genes are at risk of undergoing copy-number gain as they map to genomic intervals susceptible to the formation of DUP-TRP/INV-DUP complex rearrangements.     ///    \"We identified 1,551 DTIP-LCRs that could facilitate DUP-TRP/INV-DUP formation. \"'), ('7661', 'TSC2_PKD1', '', 'TSC2', 'PKD1', '18818683', '16', 'autosomal dominant polycystic kidney;tuberous sclerosis', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome..     ///    \"All changes in a set of 25 previously defined deletions in PKD1, PKD2 and PKD1/TSC2 were detected by this assay and we also found 14 new mutations at these loci. \"    ///    \"A tuberous sclerosis gene, TSC2, lies immediately adjacent to PKD1 and large deletions can result in the PKD1/TSC2 contiguous gene deletion syndrome. \"'), ('7662', 'RET_NCOA4', '', 'RET', 'NCOA4', '26187428', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Furthermore analysis of the clinical database revealed one additional NCOA4-RET rearrangement co-existing with activated EGFR mutation in an EGFR-mutated NSCLC patient who had progressed on afatinib. '), ('7663', 'MYC_BCL6', '', 'MYC', 'BCL6', '22408263', '16', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Twenty-eight (17%) of the 161 patients analyzed presented a MYC(+) rearrangement, targeted as either simple hit (25%) or complex hits (n=75%) including MYC/BCL2, MYC/BCL6, and MYC/BCL2/BCL6. '), ('7664', 'MYC_IGH', 't(8;14)(q24;q32) / ', 'MYC', 'IGH', '15914362', '16', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A spectrum of the symptoms of CD5+ lymphoma encompasses pericardial effusion and also can accompany c-myc/IgH rearrangement..     ///    CD5+ diffuse large B-cell lymphoma with c-myc/IgH rearrangement presenting as primary effusion lymphoma.. '), ('7665', 'RET_PTC', '', 'RET', 'PTC', '16299399', '16', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Alterations in the BRAF gene do not overlap with RAS mutations and RET/PTC rearrangement, indicating that activation of one of the effectors of the MAPK pathway is sufficient for papillary thyroid carcinogenesis. '), ('7666', 'RET_PTC', '', 'RET', 'PTC', '22481925', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Moreover, RET/PTC rearrangements and the BRAFV600E mutation were identified in 5/18 and 2/18 PTCs, respectively. '), ('7667', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '24570192', '16', 'thyroid nodule;papillary carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PAX8/PPARG and RET/PTC3 rearrangements were detected by qPCR, while BRAF and RAS point mutations were detected by pyrosequencing.     ///    \"PAX8/PPARG was detected in 2 MFP samples, while RET/PTC was detected in only one MFP sample. \"'), ('7668', 'RET_PTC3', '', 'RET', 'PTC3', '17195637', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET rearrangement was detected in 9 (12%): RET/PTC1--5, RET/PTC3--2, unspecified RET/PTC--1 and delta RET/PTC--1. '), ('7669', 'RET_PTC1', '', 'RET', 'PTC1', '22762011', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Recently, the induction of chromosomal fragile site breakage was found to result in the formation of RET/PTC1 rearrangements, a common cause of PTC. '), ('7670', 'RET_PTC', '', 'RET', 'PTC', '23461584', '16', 'thyroid carcinoma;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Following identification of RET, it was found that somatic rearrangements of this gene, conventionally designated as RET/PTC, are frequently present in papillary thyroid carcinoma. '), ('7671', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '16189702', '16', 'thyroid carcinoma;papillary carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A particular emphasis is put on the meaning of PAX8-PPARgamma rearrangements, RAS and BRAF mutations, and deletions and mutations of mitochondrial genes and of nuclear genes encoding for mitochondrial enzymes, for thyroid tumorigenesis.. '), ('7672', 'TIL_TAL', '', 'TIL', 'TAL', '21573638', '16', 'ovarian cancer\r\r', '', '', '', '', '', '', '', '', 'In this study we investigated the presence of common non-germline rearrangements at TCR Cbeta1 among freshly isolated and cultured ovarian TIL/TAL.     ///    The cultured ovarian TIL/TAL show a characteristic T cell phenotype (>95% CD3+) and mediate tumor target lysis.     ///     We have recently reported that tumor reactive T cell lines and clones can be developed from lymphocytes infiltrating ovarian malignant tumors and ascites (TIL/TAL). '), ('7673', 'GAS41_AF10', 't(10;11)(p13;q23) / t(10;11)(p13;q14-21) / ', 'GAS41', 'AF10', '24692230', '16', 'lymphoma', '', '', '', '', '', '', '', '', 'Using sequential synthetic peptides, we mapped the potential AF10/GAS41 interaction site, which was subsequently be used as scaffold for a library targeting the AF10 coiled-coil domain. '), ('7674', 'NKG2A_CD94', '', 'NKG2A', 'CD94', '11238637', '16', '', '', '', '', '', '', '', '', '', 'The repertoire of killer cell Ig-like receptor and CD94:NKG2A receptors in T cells: clones sharing identical alpha beta TCR rearrangement express highly diverse killer cell Ig-like receptor patterns..     ///    In both donors alpha beta T cells less frequently expressed the inhibitory receptors CD94:NKG2A and KIR2DL1 than either gamma delta T cells or NK cells.     ///    \" Killer cell Ig-like receptor (KIR) and CD94:NKG2A molecules were first defined as human NK cell receptors (NKR), but now are known to be expressed and to function on subpopulations of T cells. \"    ///    Here the repertoires of KIR and CD94:NKG2A expression by T cells from two donors were examined and compared with their previously defined NK cell repertoires. '), ('7675', 'RET_PTC', '', 'RET', 'PTC', '21403618', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular-biological studies of PTC revealed more common RET/PTC1 and RET/PTC3 rearrangements (34.3% of cases), than BRAFV600E mutation (24%cases).     ///    RET/PTC rearrangements and BRAF(V600E) mutation were analyzed in 35 cases of PTC.     ///    PTC with any RET/PTC rearrangements had more aggressive behavior than BRAF(V600E)-positive tumors or PTC without gene alterations.. '), ('7676', 'RUNX1_CHD1', 't(5;21)(q21;q22) / ', 'RUNX1', 'CHD1', '25879624', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia;hematopoietic malignancy\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Furthermore, the patient was found to harbor FLT3-ITD mutation, which might collaborated with CHD1-RUNX1 in the development of acute myeloid leukemia. '), ('7677', 'RET_PTC1', '', 'RET', 'PTC1', '26167339', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The PAX8-PPAR? rearrangement was observed to be more effective in the differentiation of adenomas and carcinomas in follicular neoplasms of the thyroid, whereas the RET/PTC1 analysis contributed to the differential diagnosis of papillary carcinoma histogenesis at a frequency of 29% in undifferentiated thyroid carcinomas..     ///    \"BRAF(V600E) Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review.. \"    ///    \"To identify the contribution of the BRAF(V600E) mutation, and the RET/PTC1 and PAX8-PPAR? rearrangements in the diagnosis and differential diagnosis of follicular epithelial-derived thyroid lesions. \"    ///    The BRAF(V600E) mutation and RET/PTC1 rearrangement were effective in distinguishing the follicular epithelium-derived benign and malignant lesions of the thyroid in the resection materials.     ///    \"The RET/PTC1 rearrangement was detected in 2 out of 7 undifferentiated carcinoma cases (28.6%), and in 1 out of 15 follicular carcinoma cases (6.6%). \"    ///    \"The BRAF(V600E) mutation, and the RET/PTC1 and PAX8-PPAR? rearrangements were investigated in all cases. \"'), ('7678', 'RET_PTC', '', 'RET', 'PTC', '18519677', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' RET/PTC rearrangements are one of the genetic hallmarks of papillary thyroid carcinomas.     ///    RET/PTC-induced cell growth is mediated in part by epidermal growth factor receptor (EGFR) activation: evidence for molecular and functional interactions between RET and EGFR..     ///    \"Conditional activation of RET/PTC oncoproteins in thyroid PCCL3 cells markedly induced expression and phosphorylation of EGFR, which was mediated in part through mitogen-activated protein kinase signaling. \"    ///    \"Based on the observation that the epidermal growth factor receptor (EGFR) kinase inhibitor PKI166 decreased RET/PTC kinase autophosphorylation and activation of downstream effectors in thyroid cells, despite lacking activity on the purified RET kinase, we proceeded to examine possible functional interactions between RET/PTC and EGFR. \"    ///    \"RET/PTC oncoproteins lack extracellular or transmembrane domains, and activation takes place through constitutive dimerization mediated through coiled-coil motifs in the NH(2) terminus of the chimeric protein. \"'), ('7679', 'TCR_IGH', '', 'TCR', 'IGH', '27033762', '16', 'autoimmune hemolytic anemia', '', '', '', '', '', '', '', '', 'IgH rearrangements positive were detected in 6 CAS patients, and TCR/IgH rearrangements positive were seen in 1 CAS patient. '), ('7680', 'MOZ_AML1', 't(8;16)  / ', 'MOZ', 'AML1', '11742995', '16', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The amount of AML1-MOZ complex increases during the differentiation of M1 myeloid cells into monocytes/macrophages, suggesting that the AML1-MOZ complex might play a role in cell differentiation. '), ('7681', 'RET_PTC', '', 'RET', 'PTC', '15145515', '16', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We analyzed the prevalence of BRAF point mutations and RET/PTC rearrangements in 55 post-Chernobyl papillary carcinomas, compared with 82 sporadic papillary carcinomas.     ///    \"Sporadic papillary carcinomas revealed a clearly distinct pattern, with 37% of tumors harboring BRAF mutations and 20% RET/PTC rearrangements. \"    ///    Radiation-induced tumors demonstrated a low prevalence (4%) of BRAF point mutations and high prevalence (58%) of RET/PTC rearrangements. '), ('7682', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24456122', '16', 'myeloid leukemia;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Complete response of monoblastic myeloid sarcoma with FIP1L1- PDGFRA rearrangement to imatinib monotherapy.. '), ('7683', 'RARA_PLZF', 't(11;17)(q21;q23) / t(8;21)  / ', 'RARA', 'PLZF', '11090081', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Finally, ETO interacted with PLZF/RAR alpha and enhanced its ability to repress through the RARE. '), ('7684', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '22226019', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'the incidence of recurrent rearrangements was: ETV6-RUNX1, 12.9%. '), ('7685', 'TRAV1-2_TRAJ33', '', 'TRAV1-2', 'TRAJ33', '24764561', '16', 'T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'PLZF staining identifies peripheral T-cell lymphomas derived from innate-like T-cells with TRAV1-2-TRAJ33 TCR-? rearrangement.. '), ('7686', 'NUT_BRD4', '', 'NUT', 'BRD4', '23463074', '16', 'squamous cell carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions.     ///    \"The oncogenic mechanism of the dual bromodomains and the p300-binding portion of BRD4-NUT is to sequester p300 to localized regions of chromatin, leading to global transcriptional repression and blockade of differentiation. \"'), ('7687', 'RET_PTC', '', 'RET', 'PTC', '18406659', '16', 'colorectal cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Preliminary results from our molecular oncology studies on adult-onset papillary thyroid cancer provide evidence for the induction of RET/PTC rearrangements and BRAF point mutation (both known to be early stage events in adult-onset papillary thyroid cancer) but with a difference: cases associated with the rearrangements were more frequent at high doses, and developed sooner than those with BRAF mutation. '), ('7688', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '24460680', '16', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', '', '', ' Myeloproliferative neoplasms associated with FIP1L1-PDGFR rearrangements represent a rare subset of myeloid and lymphoid malignancies, characterised by the presence of eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 genes. '), ('7689', 'RET_PTC', '', 'RET', 'PTC', '24955023', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Small molecule tyrosine kinase inhibitors targeting BRAF-mediated events, vascular endothelial growth factor receptors, RET/PTC rearrangements, and other molecular targets, show promising results to improve treatment of radioiodine resistant, recurrent, and aggressive PTC. '), ('7690', 'MYBL1_MYB', '', 'MYBL1', 'MYB', '25182241', '16', 'ependymoma\r\r', '', '', '', '', '', '', '', '', 'In pediatric low-grade diffuse gliomas, an intragenic duplication of the portion of FGFR1 encoding the tyrosine kinase domain (TKD) and rearrangements of MYB/MYBL1 were found recurrently and mutually exclusively. '), ('7691', 'RET_PTC1', '', 'RET', 'PTC1', '15876154', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The prevalence of RET/PTC1, RET/PTC2, and RET/PTC3 has been found to vary between 0% and 20% in most series of sporadic (nonradiation-induced) PTCs analyzed by type-specific reverse transcription-polymerase chain reaction (RT-PCR) alone.     ///    \"In our study, RET/PTC1, RET/PTC2, and RET/PTC3 oncogenes were found in only 7 of 105 (7%) sporadic PTCs. \"    ///    \"RT-PCR was also performed with two different primer sets for RET/PTC1, RET/PTC2, and RET/PTC3 followed by Southern hybridization in the first 62 tumors. \"    ///    \"Of these tumors, 3 involved RET/PTC1 and 4 involved RET/PTC3. \"    ///    \"RT-PCR was performed to amplify fusion products of RET/PTC1, RET/PTC2, RET/PTC3, and ELKS-RET from frozen tissue of 105 sporadic PTCs. \"    ///    \"Because the high prevalence of RET rearrangements in Chinese patients was particularly striking, we were prompted to reexamine chimeric transcripts of RET/PTC1, RET/PTC2, and RET/PTC3 using the same experimental designs in a larger number of cases in the same population. \"'), ('7692', 'MIR222_MIR221', '', 'MIR222', 'MIR221', '24147153', '16', 'glioblastoma multiforme', '', '', '', '', '', '', '', '', 'However, miR-221/miR-222 also increase DNA damage and, thus, chromosomal rearrangements. '), ('7693', 'AE3_AE1', '', 'AE3', 'AE1', '21951666', '16', 'follicular adenoma\r\r', '', '', '', '', '', '', '', '', 'This tumor demonstrated heterogeneous immunoreactions for Ki-67, thyroglobulin, thyroid transcription factor-1, and pan-cytokeratin (AE1/AE3), in that the intermediate cells had intermediate immunoreactivity between follicular and basaloid squamous cells. '), ('7694', 'PDGFB_COL1A1', 't(17;22)(q22;q13) / ', 'PDGFB', 'COL1A1', '23922791', '16', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. '), ('7695', 'RET_PTC', '', 'RET', 'PTC', '24452016', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Genomic alternations, such as RET/PTC and PAX8-PPAR?1 rearrangements and a mutation in the BRAF gene, play an oncogenic role by preventing thyroid fetal cells from differentiating. '), ('7696', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '22368272', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', 'Receptor', '', '', '', ' As controversy exists regarding the prognostic significance of genomic rearrangements of CRLF2 in pediatric B-precursor acute lymphoblastic leukemia (ALL) classified as standard/intermediate-risk (SR) or high-risk (HR), we assessed the prognostic significance of CRLF2 mRNA expression, CRLF2 genomic lesions (IGH@-CRLF2, P2RY8-CRLF2, CRLF2 F232C), deletion/mutation in genes frequently associated with high CRLF2 expression (IKZF1, JAK, IL7R), and minimal residual disease (MRD) in 1061 pediatric ALL patients (499 HR and 562 SR) on COG Trials P9905/P9906. '), ('7697', 'RET_PTC', '', 'RET', 'PTC', '21470995', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We aimed to compare the effect of four TK inhibitors (axitinib, sunitinib, vandetanib, and XL184) on cell proliferation, RET expression and autophosphorylation, and ERK activation in cell lines expressing a MEN2A (MTC-TT), a MEN2B (MZ-CRC-1) mutation, and a RET/PTC (TPC-1) rearrangement. '), ('7698', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '17854676', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Presenting features of 201 children with acute lymphoblastic leukemia: comparison according to presence or absence of ETV6/RUNX1 rearrangement.. ');
