title: Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.
abstract: A germ-line mutation of hMSH6 (also called GTBP) was found in a hereditary nonpolyposis colorectal cancer (HNPCC)-like patient in whom germ-line mutations of hMSH2, hMSH3, or hMLH1 had not been detected. The patient had rectal cancer and two colon adenomas at 62 years of age and a weak family history of gastrointestinal tumors, indicating atypical HNPCC. Somatic mutations of hMSH6 were observed in three colorectal tumors from the patient, indicating two-hit inactivation. Microsatellite instabilities at mononucleotide repeats were detected in all three tumors. These data suggest that hMSH6 is responsible for tumorigenesis in atypical HNPCC.
authors.affiliation: Department of Hygiene and Oncology, Tokyo Medical and Dental University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Akiyama
authors.forename: H
authors.initials: H
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Nagasaki
authors.forename: A
authors.initials: A
authors.lastname: Tsuchiya
authors.forename: R
authors.initials: R
authors.lastname: Abe
authors.forename: Y
authors.initials: Y
authors.lastname: Yuasa
mesh_terms: D000236:Adenoma / Q000737:chemistry; D001483:Base Sequence; D003106:Colon / Q000737:chemistry; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D018095:Germ-Line Mutation; D006801:Humans; D007413:Intestinal Mucosa / Q000737:chemistry*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; D005819:Genetic Markers