Inactivating mutations of CASPASE-7 gene in human cancers

Oncogene. 2003 Sep 11;22(39):8048-52. doi: 10.1038/sj.onc.1206727.


Caspase-7 is a caspase involved in the execution phase of apoptosis. To explore the possibility that the genetic alterations of CASPASE-7 might be involved in the development of human cancers, we analysed the entire coding region and all splice sites of human CASPASE-7 gene for the detection of somatic mutations in a series of human solid cancers, including carcinomas from stomach, colon, head/neck, esophagus, urinary bladder and lung. Overall, we detected CASPASE-7 mutations in two of 98 colon carcinomas (2.0%), one of 50 esophageal carcinomas (2.0%) and one of 33 head/neck carcinomas (3.0%). We expressed the tumor-derived caspase-7 mutants in 293 T cells and found that the apoptosis was reduced compared to the wild-type caspase-7. This is the first report on the CASPASE-7 gene mutations in human malignancies, and our data suggest that the inactivating mutations of the CASPASE-7 gene might lead to the loss of its apoptotic function and contribute to the pathogenesis of some human solid cancers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Squamous Cell / genetics
  • Caspase 7
  • Caspases / genetics*
  • Caspases / metabolism
  • Cells, Cultured
  • Colonic Neoplasms / genetics
  • Enzyme Activation / genetics
  • Esophageal Neoplasms / genetics
  • Gene Silencing
  • Head and Neck Neoplasms / genetics
  • Humans
  • Kidney / cytology
  • Kidney / metabolism
  • Loss of Heterozygosity
  • Mutation*
  • Neoplasms / genetics*
  • Polymorphism, Genetic


  • CASP7 protein, human
  • Caspase 7
  • Caspases