ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE In addition to fusion of TEL to the PDGF beta receptor in t(5;12) in chronic myelomonocytic leukemia (CMML), our data suggest that the involvement of this protein in myeloid leukemogenesis could be dual; its isolated protein-protein dimerization and DNA-binding domains may be crucial for the oncogenic activation of functionally different fusion proteins. 7731705 1995
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The TEL-AML1 fusion RNA was found in all patients with the t(12;21) whereas the reciprocal AML1-TEL transcript was only found in a subset of patients, suggesting that only the protein product encoded by TEL-AML1 is likely to play a role in leukemogenesis. 8639909 1996
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Moreover, it was shown that the AML1-ETV6 reciprocal chimeric transcript was not present in the malignant cells, and hence may not play a major role in leukemogenesis. 8653712 1996
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE This cell line will be very useful in studying the different mechanisms by which alterations of ETV6 contribute to leukemogenesis and in testing the hypothesis that ETV6 might act as a tumor suppressor gene. 9087565 1997
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The contribution of ETV6 to leukemogenesis occurs through different mechanisms that involve either its helix-loop-helix dimerization domain or its E26 transformation-specific (ETS) DNA-binding domain. 9454771 1998
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE TEL-AML1 hybrid protein thought to be critical in leukemogenesis possesses the HLH domain of TEL fused to almost the entire AML1 protein, although the detailed mechanisms of leukemogenesis remain obscure. 9498702 1997
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE These results suggest that the level of TEL expression can be important for leukemogenesis. 9671410 1998
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE This cell line, MY, expressing a novel variant P180BCR/ABL protein with a deletion of the a2 exon of the ABL gene, may be useful for elucidating the pathophysiology of this fusion protein and for studying ETV6-related leukemogenesis and t(2;3), as well as the molecular mechanisms of the complex translocations. 9790503 1998
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE FISH analysis with the use of the YAC 936e2 probe, which covers the TEL gene, did not show the split signal, suggesting that a gene other than TEL was involved in the leukemogenesis of the present case. 10549263 1999
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Taken together, our results suggest that TEL-AML1 may contribute to leukemogenesis by recruiting N-CoR to AML1 target genes and thus imposing an altered pattern of their expression. 11001911 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The identification of the 7q partner genes will determine whether it is the disruption of ETV6 alone, or the formation of fusion genes, that is important for leukemogenesis in these patients. 11066076 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE MN1-TEL contributes to leukemogenesis by a mechanism distinct from that of other chimeric proteins containing TEL. 11094079 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE These data suggest that breakage and fusion of TEL and AML1 may be relatively common events and that sublethal apoptotic signals could play a role in initiating leukemogenesis via the promotion of DNA damage. 11157492 2001
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression. 11483520 2001
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE However, the transforming activity of the ETV6/ARG protein has not been determined and its contribution to leukemogenesis is therefore unknown. 12080468 2002
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Overall, these findings indicate that TEL-AML1 contributes to leukemogenesis and may cooperate with loss of p16(INK4a)p14(ARF) to transform lymphoid progenitors. 12124316 2002
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE These findings suggest that the ETV6 gene rearrangements in this case were apparently independent of contribution to leukemogenesis, because this cytogenetic aberration appeared as a secondary change. 12393285 2002
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis. 12764377 2003
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE Here we show in a murine model of t(12;13)(p13;q12) AML that myeloid leukemogenesis is induced by the ectopic expression of CDX2 and not by the ETV6-CDX2 chimeric gene. 14718672 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Our study provides a unique insight into the role of TEL-AML1 in leukemia predisposition and a potential model to study the mechanism of leukemogenesis associated with this fusion. 14726384 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The mechanism by which TEL-AML1 contributes to this early stage of leukemogenesis is unknown. 15155899 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Gene expression profiling provided evidence that leukemia in twins harbours the same subtype-typical feature as TEL-AML1-positive leukemia in singletons suggesting that the leukemogenesis model might also be applicable generally. 15356660 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE She provides an overview of leukemias that are common in pediatric malignancies but rarely observed in adults, including the TEL-AML1 (ETV6-RUNX1) fusion associated with pediatric B-cell ALL, the OTT-MAL fusion associated with infant megakaryoblastic leukemia, PTPN11 mutations in juvenile myelomonocytic leukemia, and MLL fusion genes in leukemogenesis, among others. 15561678 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE This report provides the first evidence that a SRC-like kinase gene, FRK fused with ETV6, could directly contribute to leukemogenesis by producing an oncoprotein, ETV6/FRK, with dual functions: constitutive activation of the ETV6/FRK tyrosine kinase and dominant-negative modulation of ETV6-mediated transcriptional repression. 15611931 2005
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE Although ETV6 translocations are infrequent in acute myeloid leukemia (AML), mutations or deregulated expression of ETV6 may contribute to leukemogenesis. 15806161 2005