title: Mutations of the bak gene in human gastric and colorectal cancers.
abstract: The Bcl-2 homologue Bak is a potent inducer of apoptosis. We performed PCR-based single-strand conformational polymorphism and sequencing analysis of the entire coding region of the bak gene (exons 2-6) in 24 primary gastric cancers (6 early-stage and 18 advanced-stage cancers) and 20 primary colorectal cancers (6 early-stage and 14 advanced-stage cancers). The data herein demonstrate, for the first time, the mutation of the bak gene in gastric and colorectal cancers. Missense bak gene mutations were observed in 3 of 24 (12.5%) gastric cancers and 2 of 20 (10.0%) colorectal cancers. Sequence alterations without amino acid alteration were observed 1 of 24 (4.2%) gastric cancers and 2 of 20 (10.0%) colorectal cancers. Mutations in the bak gene were observed only in advanced-stage gastrointestinal cancers but not in early-stage cancers. Our observations suggest that mutations in this gene predispose bearers to the development of gastrointestinal malignancies in at least a subset of the cases.
authors.affiliation: Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kondo
authors.forename: Y
authors.initials: Y
authors.lastname: Shinomura
authors.forename: Y
authors.initials: Y
authors.lastname: Miyazaki
authors.forename: T
authors.initials: T
authors.lastname: Kiyohara
authors.forename: S
authors.initials: S
authors.lastname: Tsutsui
authors.forename: S
authors.initials: S
authors.lastname: Kitamura
authors.forename: Y
authors.initials: Y
authors.lastname: Nagasawa
authors.forename: M
authors.initials: M
authors.lastname: Nakahara
authors.forename: S
authors.initials: S
authors.lastname: Kanayama
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuzawa
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology; D050998:bcl-2 Homologous Antagonist-Killer Protein
chemical_list: C494772:BAK1 protein, human; D008565:Membrane Proteins; D050998:bcl-2 Homologous Antagonist-Killer Protein