Inactivating mutations of KILLER/DR5 gene in gastric cancers

Gastroenterology. 2001 Nov;121(5):1219-25. doi: 10.1053/gast.2001.28663.

Abstract

Background & aims: The KILLER/death receptor (DR)5 has been identified as a potent inducer of apoptosis, and mapped to chromosome 8p21-22, showing frequent allelic loss in gastric cancer. The p53-induced apoptosis is an important biological process to prevent the development of cancer, and is mediated in part by expression of KILLER/DR5 only in cells with wild-type p53 protein, but not in those lacking p53 function. The aim of this study was to determine whether genetic alterations of KILLER/DR5 could be involved in the tumorigenesis of gastric cancer.

Methods: We analyzed the genetic alterations of KILLER/DR5 and p53 in 43 gastric cancers and the loss of function of KILLER/DR5 mutants, detected in this study.

Results: We found 3 KILLER/DR5 missense mutations (7%), and 2 of them showed allelic loss in the remaining allele. Interestingly, all the mutants inhibit apoptotic cell death in transfection studies. We also found 6 p53 mutations (14%). Interestingly, the tumors containing the KILLER/DR5 mutation did not carry the p53 mutation.

Conclusions: These results suggest that inactivation of KILLER/DR5 caused by mutations of KILLER/DR5 may be one of the possible escaping mechanisms against KILLER/DR5-mediated apoptosis and that inactivating mutation of KILLER/DR5 may contribute to the development or progression of a subset of gastric cancers.

MeSH terms

  • Alleles
  • Cell Line
  • DNA Damage
  • Genes, p53
  • Humans
  • Loss of Heterozygosity
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Receptors, TNF-Related Apoptosis-Inducing Ligand
  • Receptors, Tumor Necrosis Factor / genetics*
  • Receptors, Tumor Necrosis Factor / physiology
  • Stomach Neoplasms / genetics*

Substances

  • Receptors, TNF-Related Apoptosis-Inducing Ligand
  • Receptors, Tumor Necrosis Factor
  • TNFRSF10B protein, human