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- W2111563178 abstract "Established predisposition genes account for only a small proportion of familial colorectal cancer. Recently, it has been shown that germline mutations in MUTYH predispose to MUTYH-associated polyposis (MAP), an autosomal recessive disorder characterised by multiple colorectal adenomas and carcinomas. MUTYH functions as a base excision repair DNA glycosylase that excises adenines misincorporated opposite 8-oxo-7,8-dihydro-2′-deoxyguanosine, one of the most stable products of oxidative DNA damage. It is the failure to correct this mispair that is thought to give rise to the characteristic signature of G:C → T:A mutations found in MAP-associated tumours. Here, we review the germline mutation spectrum at the MUTYH locus (comprising 30 truncating and 55 missense/inframe insertion/deletion variants) and the molecular mechanism and biochemical defect(s) underlying this disorder. We also discuss the application of molecular genetic analysis of MUTYH in clinical practice." @default.
- W2111563178 created "2016-06-24" @default.
- W2111563178 creator A5012742637 @default.
- W2111563178 creator A5038315564 @default.
- W2111563178 date "2007-03-01" @default.
- W2111563178 modified "2023-10-12" @default.
- W2111563178 title "MUTYH-associated polyposis—From defect in base excision repair to clinical genetic testing" @default.
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- W2111563178 doi "https://doi.org/10.1016/j.dnarep.2006.11.001" @default.
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