{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMUTYH encodes a DNA glycosylase that is central to the base excision repair (BER) pathway, where it specifically recognizes and excises adenines misincorporated opposite the oxidized base 8‐oxo-7,8-dihydroguanine. This activity prevents G:C to T:A transversion mutations and thereby maintains genomic stability. In addition, MUTYH physically and functionally interacts with mismatch repair proteins—such as the hMSH2/hMSH6 (hMutSα) complex—to enhance repair efficiency, ensuring that oxidative DNA lesions do not become permanently fixed as mutations. These coordinated interactions and catalytic functions underscore MUTYH’s essential role as a molecular safeguard against oxidative damage."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDefects in MUTYH—whether through biallelic or, in some cases, monoallelic germline mutations—compromise its repair function and lead to a characteristic mutational signature dominated by G:C→T:A transversions in critical genes such as APC. Such mutations underpin MUTYH-associated polyposis (MAP), a recessively inherited condition in which affected individuals display multiple adenomas and an escalated risk for colorectal carcinoma. Numerous population-based and molecular studies have documented that loss of proper MUTYH function is a major driving force in colorectal tumorigenesis, further reinforcing its role as a crucial guardian against mutation accumulation in the colorectal epithelium."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "24"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its well‐defined role in colorectal repair, emerging research indicates that MUTYH variants and polymorphisms can influence the risk of several extracolonic malignancies and may interact with other DNA repair enzymes as well as environmental exposures. Studies of common BER gene polymorphisms have explored associations with breast, bladder, prostate, and other cancers, while investigations into gene–gene and gene–environment interactions further illuminate how subtle variations in MUTYH activity contribute to broader genomic instability. The overlap of MAP with phenotypes resembling Lynch syndrome and the observation of distinctive mutational signatures in diverse tumor types highlight the multifaceted impact of MUTYH on carcinogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "25", "end_ref": "39"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Siân Jones, Paul Emmerson, Julie Maynard, et al. 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