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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.

Type

Journal article

Journal

Cancer Lett

Publication Date

28/10/2003

Volume

200

Pages

149 - 152

Keywords

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