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.

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doi.org/10.1038/sj.bjc.6601551, hdl.handle.net/1765/66930
British Journal of Cancer
Department of Pathology

Koppert, L.B, Schutte, A.E.M, Abbou, M, Tilanus, H.W, & Dinjens, W.N.M. (2004). The CHEK2*1100delC mutation has no major contribution in oesophageal carcinogenesis. British Journal of Cancer, 90(4), 888–891. doi:10.1038/sj.bjc.6601551