Biomarkers /
MUTYH
Overview
The mutY homolog (MUTYH) gene encodes a protein that functions in oxidative DNA damage repair. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
MUTYH is altered in 1.02% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].
The most common alterations in MUTYH are MUTYH Mutation (0.93%), MUTYH Amplification (0.11%), MUTYH Loss (0.05%), MUTYH A416T (0.03%), and MUTYH R531W (0.02%) [3].
Clinical Trials
Significance of MUTYH in Diseases
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.