NIH R01 · 2025
DNA Damage Repair by MUTYH and MUTYH Variants Associated with Colorectal Cancer
MUTYH-associated polyposis (MAP) is an inherited colorectal cancer (CRC) syndrome that results from inherited biallelic mutations in the gene for the MUTYH base excision repair (BER) glycosylase. Our laboratory provided enzymatic analysis on the functional defects of two missense variants of MUTYH found in colorectal cancer that was key for establishing the connection between MUTYH variants and colorectal cancer. MUTYH prevents mutations associated with 8-oxo-7,8-dihydro-2’-deoxyguanosine (OG) by removal of misincorporated adenine residues from OG:A mismatches, and thus aberrantly functioning MUTYH leads to the accumulation of mutations in tumor suppressor genes. Since the original…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.