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 ETV6: a versatile player in leukemogenesis. 15826831 2005
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE Identification of ANLN as ETV6 partner gene in recurrent t(7;12)(p15;p13): a possible role of deregulated ANLN expression in leukemogenesis. 26584717 2015
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE Both abnormalities affect the reciprocal RUNX1-ETV6 fusion product which could either eliminate or amplify its expression and thus contribute to leukemogenesis. 23077088 2013
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 The absence of the reciprocal NCOA2-ETV6 transcript in one of the cases suggests that the ETV6-NCOA2 chimeric protein and not the reciprocal NCOA2-ETV6 is responsible for leukemogenesis. 18281529 2008
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 Biomarker disease BEFREE Nevertheless, functional studies would be needed to establish the biological role of AIF1L-ETV6 and ABL1-AIF1L and to determine whether they contribute to leukemogenesis and/or to the final leukemia phenotype. 29726059 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE To identify novel genes that cooperate with ETV6-RUNX1 in leukemogenesis, we generated a mouse model that uses the endogenous Etv6 locus to coexpress the Etv6-RUNX1 fusion and Sleeping Beauty transposase. 21628403 2011
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Translocation t(12;21), resulting in the ETV6-RUNX1 (or TEL-AML1) fusion protein, is present in 25% of pediatric patients with B-cell precursor acute lymphoblastic leukemia and is considered a first hit in leukemogenesis. 30381299 2019
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 We have recently reported that ETV6/RUNX1 transcript is a target of RNA-binding protein IGF2BP1 in t(12;21)(p13;q22)-positive ALL suggesting a direct role of IGF2BP1 in ETV6/RUNX1-mediated leukemogenesis. 27239736 2016
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 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 Biomarker disease BEFREE Here we addressed the role of MN1-TEL in myeloid leukemogenesis using the same mouse model. 16105979 2005
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Pre-TCR signaling synergizes with TEL-JAK2 to transform immature thymocytes and initiate leukemogenesis as shown by (1) the delayed leukemia onset in Rag2-, CD3epsilon- and pTalpha-deficient mice, (2) the occurrence of recurrent chromosomal alterations in pre-TCR-deficient leukemia, and (3) the correction of delayed leukemia onset in Rag2-deficient TEL-JAK2 mice by an H-Y TCRalphabeta transgene that mimics pre-TCR signaling. 17192390 2007
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE EPOR mRNA is selectively and ectopically expressed in ETV6-RUNX1(+) ALL, but the presence of a functional EPOR on the cell surface and its role in leukemogenesis driven by ETV6-RUNX1 remains to be identified. 21900195 2011
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 Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression. 11483520 2001
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 GeneticVariation disease BEFREE These data infer that IGF2BP1 is a potent regulator of ETV6/RUNX1 mRNA stability and potentially link this evolutionary-highly conserved protein to cell transformation events in ETV6/RUNX1-mediated leukemogenesis of t(12;21)(p13;q22)-positive ALL. 26852652 2016
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 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 Taken together, our results indicated that TEL-MN1 fusion is an oncogene involved in the leukemogenesis process and TEL-MN1 overexpression enhanced resistance of HL-60 cells to idarubicin, which may provide a useful tool for studying the mechanism of leukemogenesis and drug resistance. 30840968 2018
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