Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma

Cancer Lett. 2003 Oct 28;200(2):149-52. doi: 10.1016/s0304-3835(03)00391-4.

Abstract

Aneuploidy is a characteristic of a subset of colorectal tumours. CHEK2 (also known as CHK2) is one of the cell cycle checkpoint genes coding for a family of proteins that sense damage in eukaryotic cells. Germline variation in CHEK2 has recently been shown to confer cancer susceptibility. Heterozygous mutations have been identified in patients with TP53-negative Li-Fraumeni syndrome. Furthermore, the CHEK2 1100delC variant carried by 1% of the population has been shown to act as a low penetrance allele for both breast and prostate cancers. To further our knowledge about the contribution of CHEK2 1100delC to cancer incidence we have analysed a series of 149 patients with multiple colorectal adenomas some of whom developed colorectal cancer. The CHEK2 1100delC allele was not over-represented in cases suggesting that this variant is not associated with an increased risk of colorectal disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma / genetics*
  • Aged
  • Carcinoma / genetics*
  • Checkpoint Kinase 2
  • Colorectal Neoplasms / genetics*
  • Female
  • Genes, Tumor Suppressor
  • Genes, cdc
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neoplasms, Multiple Primary / genetics*
  • Protein Kinases / genetics*
  • Protein Serine-Threonine Kinases*

Substances

  • Protein Kinases
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein Serine-Threonine Kinases