Overview

ETS variant 1 (ETV1) is a gene that encodes a transcription factor protein that is a member of the ETS (E twenty-six) family. The protein functions in the regulation of cell growth, angiogenesis, migration, proliferation, and differentiation. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, esophageal cancer, and intestinal cancer.

ETV1 is altered in 1.56% of all cancers with lung adenocarcinoma, colon adenocarcinoma, prostate adenocarcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

The most common alterations in ETV1 are ETV1 Amplification (0.36%), ETV1 Fusion (0.06%), ETV1 Loss (0.04%), ETV1 R213C (0.03%), and ETV1-TMPRSS2 Fusion (0.03%) [3].

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 8. 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.