The CHEK2*1100delC mutation has no major contribution in oesophageal carcinogenesis.

In response to DNA damage, the cell cycle checkpoint kinase 2 (CHEK2) may phosphorylate p53, Cdc25A and Cdc25C, and regulate BRCA1 function, leading to cell cycle arrest and DNA repair. The truncating germline mutation CHEK2^*1100delC abrogates kinase activity and confers low-penetrance susceptibility to breast cancer. We found CHEK2^*1100delC in 0.5% of 190 oesophageal squamous cell carcinomas and in 1.5% of 196 oesophageal adenocarcinomas. In addition, we observed the mutation in 3.0% of 99 Barrett's metaplasias and 1.5% of 66 dysplastic Barrett's epithelia, both known precursor lesions of oesophageal adenocarcinoma. Since CHEK2^*1100delC mutation frequencies did not significantly differ among oesophageal squamous cell carcinomas, adenocarcinomas and (dysplastic) Barrett's epithelia, as compared to healthy individuals, we conclude that the CHEK2^*1100delC mutation has no major contribution in oesophageal carcinogenesis.British Journal of Cancer (2004) 90, 888-891. doi:10.1038/sj.bjc.6601551 www.bjcancer.com [ABSTRACT FROM AUTHOR]