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

@article{Lipton2003ContributionOT,
  title={Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.},
  author={Lara R. Lipton and Christina Fleischmann and Oliver M. Sieber and H. W. Thomas and Shirley Victoria Hodgson and Ian P. M. Tomlinson and Richard S. Houlston},
  journal={Cancer letters},
  year={2003},
  volume={200 2},
  pages={149-52}
}
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… CONTINUE READING