title: Absence of germline CHK2 mutations in familial gastric cancer.
abstract: Recently, the CHK2 gene was identified as being a candidate gene responsible for Li-Fraumeni syndrome (LFS). Gastric cancer is often clustered in families with LFS, so it is possible that germline CHK2 mutation is also present in familial gastric cancer (FGC). We therefore defined the genomic structure of the CHK2 gene, designed intronic primers, and searched for germline CHK2 mutations in 25 FGC cases by polymerase chain reaction-single strand conformational polymorphism analysis of the entire coding region. In all of the 25 cases, at least two siblings had histories of gastric cancer. There were no FGC cases that showed germline CHK2 mutations. Thus, it was indicated that germline CHK2 mutations do not contribute to the familial clustering of gastric cancer.
authors.affiliation: Biology Division, National Cancer Center Research Institute, Chuo-ku, Tokyo 104-0045, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kimura
authors.forename: K
authors.initials: K
authors.lastname: Shinmura
authors.forename: K
authors.initials: K
authors.lastname: Yoshimura
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
authors.forename: H
authors.initials: H
authors.lastname: Katai
authors.forename: Y
authors.initials: Y
authors.lastname: Beppu
authors.forename: H
authors.initials: H
authors.lastname: Moriya
authors.forename: J
authors.initials: J
authors.lastname: Yokota
mesh_terms: D000368:Aged; D001483:Base Sequence; D064447:Checkpoint Kinase 2; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D011494:Protein Kinases; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases