title: [From gene to disease; MutYH-associated polyposis coli (MAP)].
abstract: MutYH-associated polyposis coli (MAP) is an autosomal recessive inherited form of polyposis and colorectal carcinoma associated with germline mutations in the MutYH gene on chromosome I. The MutYH protein is a base excision repair glycosylase which is involved in the repair of damage caused by the oxidation ofa guanine leading to 8-oxo-7,8-dihydroguanine. If the MutYH protein is dysfunctional, G:C --> T:A mutations in the APC-gene give rise to polyposis and in 50-60% of cases also colorectal carcinoma. MutYH polyposis differs from familial adenomatous polyposis coli in its mode of transmission, later age of onset, a less florid form of polyposis, and fewer extra colonic manifestations.
authors.affiliation: Centrum voor Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
authors.forename: M
authors.initials: M
authors.lastname: Nielsen
authors.forename: M M
authors.initials: MM
authors.lastname: Weiss
authors.forename: H F A
authors.initials: HF
authors.lastname: Vasen
authors.forename: F J
authors.initials: FJ
authors.lastname: Hes
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D015179:Colorectal Neoplasms / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase