title: MUTYH-associated colorectal cancer and adenomatous polyposis.
abstract: MUTYH-associated polyposis (MAP) was first described in 2002. MUTYH is a component of a base excision repair system that protects the genomic information from oxidative damage. When the MUTYH gene product is impaired by bi-allelic germline mutation, it leads to the mutation of cancer-related genes, such as the APC and/or the KRAS genes, via G to T transversion. MAP is a hereditary colorectal cancer syndrome inherited in an autosomal-recessive fashion. The clinical features of MAP include the presence of 10-100 adenomatous polyps in the colon, and early onset of colorectal cancer. Ethnic and geographical differences in the pattern of the MUTYH gene mutations have been suggested. In Caucasian patients, c.536A>G (Y179C) and c.1187G>A (G396D) mutations are frequently detected. In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP. We herein review the literature on MUTYH-associated colorectal cancer and adenomatous polyposis.
authors.affiliation: Department of Surgical Oncology, Dokkyo Medical University, 880 Kitakobayashi, Mibu , Tochigi, 321-0293, Japan, syamaguc@dokkyomed.ac.jp.
authors.forename: Satoru
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Hideo
authors.initials: H
authors.lastname: Ogata
authors.forename: Daisuke
authors.initials: D
authors.lastname: Katsumata
authors.forename: Masanobu
authors.initials: M
authors.lastname: Nakajima
authors.forename: Takaaki
authors.initials: T
authors.lastname: Fujii
authors.forename: Soichi
authors.initials: S
authors.lastname: Tsutsumi
authors.forename: Takayuki
authors.initials: T
authors.lastname: Asao
authors.forename: Kinro
authors.initials: K
authors.lastname: Sasaki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kuwano
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kato
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D044466:Asian People / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006147:Guanine / Q000031:analogs & derivatives; D006801:Humans; D018384:Oxidative Stress / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras); D044465:White People / Q000235:genetics; D018631:ras Proteins / Q000235:genetics
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; C024829:8-hydroxyguanine; D006147:Guanine; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins