title: MUTYH-associated polyposis (MAP).
abstract: The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors. Furthermore, the relationship between MUTYH and the mismatch repair genes in colorectal cancer (CRC) families is examined. Finally, the role of other base excision repair genes in polyposis and CRC patients is discussed.
authors.affiliation: Department Clinical Genetics, Leiden University Medical Centre, Albinusdreef, Leiden, The Netherlands. m.nielsen@lumc.nl
authors.forename: Maartje
authors.initials: M
authors.lastname: Nielsen
authors.forename: Hans
authors.initials: H
authors.lastname: Morreau
authors.forename: Hans F A
authors.initials: HF
authors.lastname: Vasen
authors.forename: Frederik J
authors.initials: FJ
authors.lastname: Hes
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase