title: A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer.
abstract: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease predisposing to the development of colorectal cancers and several other malignancies (endometrium, ovaries, stomach, small bowel, hepatobiliary, and urinary tract). HNPCC is caused by germline mutations in any of the mismatch repair genes. Mutations in MLH1 and MSH2 account for almost 90% of all identified ones. Here, we report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2 gene.
authors.affiliation: Department of Emergency Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Wen-Chau
authors.initials: WC
authors.lastname: Chen
authors.forename: Shao-Chieh
authors.initials: SC
authors.lastname: Lin
authors.forename: Jenq-Chang
authors.initials: JC
authors.lastname: Lee
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D010375:Pedigree
chemical_list: D018389:Codon, Nonsense; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein