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Mutational analysis of CASP10 gene in colon, breast, lung and hepatocellular carcinomas

Ji Eun Oh1, Min Sung Kim, Chang Hyeok Ahn

  • 1Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Pathology
|December 23, 2009
PubMed
Abstract

Insights

Somatic mutations in the CASP10 gene are rare in colon, breast, lung, and hepatocellular carcinomas. However, CASP10 mutations may play a role in colon cancer development alongside other CASP gene mutations.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cancer cells often evade apoptosis, a programmed cell death process.
  • Somatic mutations in pro-apoptotic genes are a known mechanism for inactivating apoptosis in cancer.
  • Caspase-10 (CASP10) is an initiator caspase, and its mutations have been observed in non-Hodgkin's lymphoma and gastric carcinoma.

Purpose of the Study:

  • To investigate the frequency of somatic mutations in the CASP10 gene across colon, breast, lung, and hepatocellular carcinomas.
  • To determine if CASP10 mutations contribute to the development of these specific cancer types.

Main Methods:

  • Analysis of the entire coding region and splice sites of the CASP10 gene.
  • Utilized single-strand conformation polymorphism (SSCP) assay for mutation detection.
  • Examined samples from 47 cases each of colon, breast, lung, and hepatocellular carcinomas.

Main Results:

  • Identified two CASP10 mutations in 4.3% (2/47) of colon cancer samples.
  • No CASP10 mutations were detected in breast, lung, or hepatocellular carcinomas.
  • One colon cancer case with a CASP10 missense mutation also exhibited mutations in CASP3, CASP7, and CASP8 genes.

Conclusions:

  • Somatic mutation of CASP10 is infrequent in the studied carcinomas (colon, breast, lung, hepatocellular).
  • CASP10 mutations may contribute to the pathogenesis of a subset of colon carcinomas.
  • The findings suggest a potential collaborative role of CASP10 mutations with other CASP gene mutations in colon cancer development.

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