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

Lara Lipton, Christina Fleischmann, Oliver M Sieber, Huw J W Thomas, Shirley V Hodgson, Ian P M Tomlinson, Richard S Houlston

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.

Original languageEnglish
Pages (from-to)149-52
Number of pages4
JournalCancer letters
Issue number2
Publication statusPublished - 28 Oct 2003

Keywords / Materials (for Non-textual outputs)

  • 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


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