Mutations of the bak gene in human gastric and colorectal cancers

Cancer Res. 2000 Aug 15;60(16):4328-30.

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.

MeSH terms

  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • DNA Mutational Analysis
  • Exons / genetics
  • Humans
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Neoplasm Staging
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology
  • bcl-2 Homologous Antagonist-Killer Protein

Substances

  • BAK1 protein, human
  • Membrane Proteins
  • bcl-2 Homologous Antagonist-Killer Protein