MUTYH

Overview

MUTYH (MutY DNA Glycosylase) is a base excision repair enzyme that removes adenine mispaired with 8-oxoguanine. Germline biallelic MUTYH mutations cause MUTYH-associated polyposis (MAP), a colorectal cancer predisposition syndrome. MUTYH was assessed in the context of mutational signature analysis in metastatic urothelial carcinoma.

Alterations observed in the corpus

• Assessed in metastatic urothelial carcinoma (UC-GENOME cohort) in the context of tumor mutational burden and DNA repair pathway analysis PMID:36333289
• Biallelic germline MUTYH mutations define MUTYH-associated polyposis (MAP) with elevated gastric cancer risk; must be ruled out before familial non-hereditary gastric cancer (FNHGC) labeling; included in standard multigene GC panel PMID:24816255
• Most common DNA-repair PPGM gene in MET500 metastatic cancer cohort (n=10, 16% of all PPGMs across 500 patients); reclassified as a tumor suppressor in this study based on its aberration profile PMID:28783718

Cancer types (linked)

• Urothelial carcinoma (UC): assessed in UC-GENOME cohort as part of DNA repair gene panel PMID:36333289

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

Sources

• PMID:36333289

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