Overview

Location [1]
12p13.2
Protein [2]
Transcription factor ETV6
Synonyms [1]
TEL, THC5, TEL/ABL

The gene ets variant 6 (ETV6) encodes for the transcription factor ETV6 protein. ETV6 is a DNA-binding protein involved in transcription regulation during embryonic development and hematopoiesis (Gene 2014Genetics Home Reference 2014). ETV6 variants—rearrangements, in particular—have been observed in myelodysplastic syndromes, other hematologic malignancies, and sarcomas.​

ETV6 is altered in 2.38% of all cancers with acute myeloid leukemia, myelodysplastic syndromes, lung adenocarcinoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

ETV6 GENIE Cases - Top Diseases

The most common alterations in ETV6 are ETV6 Mutation (2.02%), ETV6 Frameshift (1.10%), ETV6 E21Gfs*60 (1.01%), ETV6 Amplification (0.48%), and ETV6 Loss (0.17%) [3].

ETV6 GENIE Cases - Top Alterations

Significance of ETV6 in Diseases

Acute Myeloid Leukemia +

Malignant Solid Tumor +

Congenital Mesoblastic Nephroma +

Infantile Fibrosarcoma +

Acute Lymphoblastic Leukemia +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Chronic Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Leukemia +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Undifferentiated Leukemia +

Hodgkin Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Secretory Breast Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.