Gene

ETV6

ETS variant transcription factor 6

Explore in graph →CI-GENE-00001073HGNC:3495 ENSG00000139083 NCBI 2120 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (13)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–13 of 13 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
ABL2 Fusion + ETV6 R399HABL2 ETV61
(oncogenic)	Acute Lymphoblastic Leukemia	Oncogenic	D	Supports Oncogenicity

Cohorts

Alteration frequency by cohort (75)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved75 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022	Colorectal Adenocarcinoma	Ssm

Literature

Linked publications (3)

25 per page, newest first.

pubmedPublishedShowing 1–3 of 3 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

t(7;12)(q36;p13) and t(7;12)(q32;p13)--translocations involving ETV6 in children 18 months of age or younger with myeloid disorders.
· Leukemia · 2001 · PMID 11417477 · validated civic_curation pubmed
High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9.
· Genes Chromosomes Cancer · 2006 · PMID 16646086 · validated civic_curation pubmed
Acute myeloid leukemia (AML) with t(7;12)(q36;p13) is associated with infancy and trisomy 19: Data from Nordic Society for Pediatric Hematology and Oncology (NOPHO-AML) and review of the literature.
· Genes Chromosomes Cancer · 2018 · PMID 29569294 · validated civic_curation pubmed

ETV6 P214L3
(predisposing)	Acute Lymphoblastic Leukemia	Predisposing	C	Supports Predisposition	4	submitted	EID1886 Two family pedigrees (one family with three generations and a small 4 member family spanning two generations) are presented. Exome sequencing was performed with 8 individuals from the first family, an… (full text at CIViC) PMID 25807284 · Noetzli et al., 2015 · Open in CIViC	civic
〃	Hematopoietic and Lymphoid Cell NeoplasmALIAS	Predisposing	C	Supports Predisposition	3	submitted	EID1885 3 members of a small four member pedigree with thrombocytopenia and tendency for hematologic cancer were characterized with an 85 gene panel. Thrombocytopenia associated RUNX1, CEBPA and GATA2 were no… (full text at CIViC) PMID 25581430 · Zhang et al., 2015 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Dominant Negative	4	submitted	EID10048 HEK293T cells were transfected with wild type (WT) or mutant (P214L, R418G, 385-418del) ETV6 along with a luciferase reporter construct of one of the ETV6 transcriptional target genes (stromelysin-1/M… (full text at CIViC) PMID 25807284 · Noetzli et al., 2015 · Open in CIViC	civic

ETV6 Fusion3
(diagnostic)	Acute Myeloid Leukemia With MNX1::ETV6 FusionUNRESOLVED	Diagnostic	B	Supports Positive	3	accepted	EID12091 In this 2001 study, the authors identified AML patients with 7q and 12p (ETV6) cytogenetic abnormalities from a cohort of 130 patients aged 0 to 17 years. Of the 125 cases with suitable karyotypes, 5 … (full text at CIViC) PMID 11417477 · Slater et al., 2001 · Open in CIViC	civic
〃	Acute Myeloid Leukemia With MNX1::ETV6 FusionUNRESOLVED	Diagnostic	B	Supports Positive	3	accepted	EID12092 In this 2006 study, the authors examined cytogenetics for the presence of a 7q31-36 and 12p11-13 chromosomal abnormality in 320 infants and pediatric ALL and AML patients younger than 36 months of age… (full text at CIViC) PMID 16646086 · von Bergh et al., 2006 · Open in CIViC	civic
〃	Acute Myeloid Leukemia With MNX1::ETV6 FusionUNRESOLVED	Diagnostic	B	Supports Positive	3	accepted	EID12093 In this 2018 study, the authors included 651 pediatric patients diagnosed with AML. Seven patients were found to have a t(7;12)(q36;p13) also known as MNX1::ETV6 (previously known as HLXB9::ETV6), wit… (full text at CIViC) PMID 29569294 · Espersen et al., 2018 · Open in CIViC	civic