Biomarkers /
EPAS1
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Associated Diseases
Overview
EPAS1 is altered in 1.02% of all cancers with colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in EPAS1 are EPAS1 Amplification (0.07%), EPAS1 Loss (0.04%), EPAS1 S474T (0.02%), EPAS1 A506T (0.01%), and EPAS1 R181C (0.01%) [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.