title: Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.
abstract: Germline MUTYH mutations were investigated in 14 Japanese colorectal polyposis patients without germ line adenomatous polyposis coli (APC) gene mutations. Three patients had a heterozygous IVS10-2A>G MUTYH mutation. The onset of MUTYH-associated polyposis (MAP) occurs later than that of familial adenomatous polyposis with germline APC mutation. Thus, we compared the carrier frequency of MUTYH IVS10-2A>G heterozygote in the APC mutation negative cases with that in 115 controls over 70 years of age who showed no apparent clinical manifestations of cancer and claimed that they had no history of cancer at the time of enrollment. The frequency of IVS10-2A>G heterozygote in APC germline mutation negative polyposis patients was significantly higher than control subject (p = 0.012, Chi square test). Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis.
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.|Division of Bioresources, Chemical Resources Laboratory, Tokyo Institute of Technology, Yokohama, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Taki
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.|Department of Clinical Research, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo, Japan.
authors.forename: Sachio
authors.initials: S
authors.lastname: Nomura
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.
authors.forename: Yuumi
authors.initials: Y
authors.lastname: Ashihara
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan.
authors.forename: Mizuho
authors.initials: M
authors.lastname: Kita
authors.affiliation: Tajima Hospital, Agatsuma-gun, Gunma, Japan.
authors.forename: Ikufumi
authors.initials: I
authors.lastname: Tajima
authors.affiliation: Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan.
authors.forename: Kokichi
authors.initials: K
authors.lastname: Sugano
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550, Japan. marai@jfcr.or.jp.
authors.forename: Masami
authors.initials: M
authors.lastname: Arai
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase
keywords: Adenomatous polyposis; Colorectal polyposis; FAP; MAP; MUTYH; MUTYH-associated polyposis