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 GeneticVariation disease BEFREE This observation confirms that TEL/AML1 alone is not sufficient to trigger ALL and that TEL deletion is a secondary event in leukemogenesis. 16038737 2005
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 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 Overall, our findings indicate that activin A, in concert with TGF-β, could play an important role in the creation of a pro-oncogenic BM microenvironment and provide novel mechanistic insights into TEL-AML1-associated leukemogenesis. 30825516 2019
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 GeneticVariation disease BEFREE Our data on increased DSB levels in the BCR-ABL/TEL-AML1 patient's cells support a model where BCR-ABL/TEL-AML1 induces DNA instability through facilitating mutagenesis and appearance of additional genetic alterations driving leukemogenesis. 25244981 2014
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE It is likely that ETV6 is frequently involved in leukemogenesis because of the large number of partners with which it can rearrange and the several pathogenic mechanisms by which it can lead to cell transformation. 22578774 2012
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Recently, autosomal dominant germline ETV6 mutations were discovered in families with inherited thrombocytopenia and a propensity to develop hematological malignancy, unequivocally demonstrating a role for ETV6 in leukemogenesis. 28637624 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Thus, our data does not support hypothesis that the central region of TEL is indispensable for TEL/AML1 driven leukemogenesis. 21157892 2011
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
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 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 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 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 To analyze the role of MN1-TEL in leukemogenesis, we created a site-directed transgenic (knock-in) mouse model carrying a conditional MN1-TEL transgene under the control of the Aml1 regulatory sequences. 16081688 2005
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 Additional genetic changes, such as ETV6 loss, extra RUNX1, ETV6/RUNX1 duplication, and MLL aberrations in the ETV6/RUNX1-positive group, supported the hypothesis of the ETV6/RUNX1 leukemogenic model that these secondary changes are necessary for leukemogenesis rather than progression of disease. 18728978 2008
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE We report here that FLT3 may contribute to leukemogenesis in a patient with myeloproliferative disorder and a t(12;13)(p13;q12) translocation through generating a fusion gene with the ETS variant gene 6 (ETV6) gene. 16761019 2006
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 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 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 Loss of tumor suppressive function of wild-type TEL and maintenance of STAT3-mediated signal could at least partly contribute to the leukemogenesis caused by inv(12)(p13q13). 16061641 2005
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE Here, using the TEL-JAK2 transgenic (TJ2-Tg) mouse model of T-ALL/LBL, which is driven by constitutive JAK/STAT signaling and characterized by the acquisition of Notch1 mutations, we sought to identify stromal cell alterations associated with thymic leukemogenesis. 30256907 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE In addition to mutations in genes known to be involved in leukemogenesis (ETV6, NOTCH1, JAK1, and NF1), we identified novel recurrent mutations in FAT1 (25%), FAT3 (20%), DNM2 (35%), and genes associated with epigenetic regulation (MLL2, BMI1, and DNMT3A). 23603912 2013
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