title: MutYH (MYH) and colorectal cancer.
abstract: MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflecting the normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine, a prevalent and stable product of oxidative damage to DNA. However, the full genetic pathway of MAP tumorigenesis has not been elucidated.
authors.affiliation: Department of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 XN, UK.
authors.forename: J R
authors.initials: JR
authors.lastname: Sampson
authors.forename: S
authors.initials: S
authors.lastname: Jones
authors.forename: S
authors.initials: S
authors.lastname: Dolwani
authors.forename: J P
authors.initials: JP
authors.lastname: Cheadle
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D020137:Base Pair Mismatch / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase