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: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The modification of this translocation may lead to reducing effects of the fusion gene's damaging and the dosage compensation related to ETV6 and RUNX1 genes and subsequently reduce the effects of leukemia. 31602594 2020
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE WW domain binding protein 1-like (WBP1L), also known as outcome predictor of acute leukaemia 1 (OPAL1), is a transmembrane adaptor protein, expression of which correlates with ETV6-RUNX1 (t(12;21)(p13;q22)) translocation and favourable prognosis in childhood leukaemia. 31845480 2020
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE We suggest that germline aberrations resulting in monoallelic expression of <i>ETV6</i> contribute to leukemia susceptibility, whereas more severe functional deficiency of ETV6 is required for developing THC5. 31519648 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy. 31248877 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE A 4-log-stage linearity of R2 ≥ 99.81% and a sensitivity of one leukemia associated ETV6-RUNX1 mutant DNA copy in a background of 100 000 wild-type DNA copies are achieved. 31139783 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Taken together, this study identifies SPIB as an important target of ETV6-RUNX1 in regulation of B-cell gene expression in t(12;21) leukemia. 30986496 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE CRKL is tightly linked to leukemia via its binding partners BCR-ABL and TEL-ABL, upregulated in multiple types of human cancers, and induce cancer cell proliferation and invasion. 31133010 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Second, in a small fraction of these cases, the postnatal acquisition of secondary genetic changes (primarily V(D)J recombination-activating protein (RAG) and activation-induced cytidine deaminase (AID)-driven copy number alterations in the case of ETS translocation variant 6 (ETV6)-runt-related transcription factor 1 (RUNX1)<sup>+</sup> ALL) drives conversion to overt leukaemia. 29784935 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Future researches are needed to explain how ETV6 mutations act within the microenvironment of leukemic cells and how it affects the progression of leukaemia. 29894279 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The prenatal origin of the rearrangement confirms that ETV6-ABL1 is not sufficient to cause overt leukemia, even when combined with the 2 novel fusions. 29726059 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Deletions affecting the transcriptional coregulator BTG1 are frequently observed in ETV6-RUNX1-positive leukemia. 29408281 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Mechanism of ETV6-RUNX1 Leukemia. 28299659 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE As with ABL, translocations that fuse ARG to ETV6/TEL have been identified in patients with leukemia. 28386107 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Our findings suggest ETV6-RUNX1 is associated with space-time clustering of CL and are consistent with an infection interacting with that oncogene in early life leading to clinical leukemia. 28129329 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Additionally, the ETV6-RUNX1 fusion was found to encode putative neoepitopes in a high proportion (69.6%) of the pediatric leukemia harboring this fusion. 28854978 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE ETV6 in hematopoiesis and leukemia predisposition. 28637624 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The most frequent chromosomal changes in subgroups divided according to WHO classification independent of treatment protocol and leukemia subtype were hyperdiploidy in 36 patients (with ≥50 chromosomes in 23 patients, with 47-49 chromosomes 13 patients) followed by translocation t(12;21) with ETV6/RUNX1 fusion detected by FISH in 18 (22%) patients. 27341996 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE As few <i>ETV6-RUNX1</i> carriers develop precursor B-cell acute lymphocytic leukemia (pB-ALL), the underlying genetic basis for development of full-blown leukemia remains to be identified, but the appearance of leukemia cases in time-space clusters keeps infection as a potential causal factor. 28630052 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE We provide mechanistic support for the concept that altered patterns of infection during early childhood can deliver the necessary promotional drive for the progression of ETV6-RUNX1+ pre-leukaemic cells into a postnatal overt leukaemia. 28299660 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia. 28650474 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Secondary chromosomal aberrations are necessary for development of overt leukemia in t(12;21)/ETV6-RUNX1-positive acute lymphoblastic leukemia (ALL). 27215399 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE We show here for the first time that LPXN is a fusion partner of ETV6 and present evidence indicating that ETV6-LPXN plays a crucial role in leukemia progression through enhancing the response to G-CSF and CXCL12. 26542893 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Characterization of leukemias with ETV6-ABL1 fusion. 27229714 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE All together, our study defined a unique lncRNA expression signature associated with ETV6/RUNX1-positive BCP-ALL and identified lnc-RTN4R-1 and lnc-NKX2-3-1 as lncRNAs that might be functionally implicated in the biology of this prevalent subtype of human leukemia. 27650541 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Genetically, CD200/BTLA deletions were strongly associated with ETV6-RUNX1-positive leukemias (P<0.0001), but were also identified in patients who did not have any genetic abnormality that is currently used for risk stratification. 26137961 2015