Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?

  title={Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?},
  author={Cezary Cybulski and Dominika Wokołorczyk and J{\'o}zef Kładny and Grzegorz Kurzwaski and Joanna Suchy and Ewa A. Grabowska and Jacek Gronwald and Tomasz Huzarski and Tomasz Byrski and Bohdan G{\'o}rski and Tadeusz Dbniak and Steven A Narod and Jan A. Lubiński},
  journal={European Journal of Human Genetics},
Germline mutations in cell cycle checkpoint kinase 2 (CHEK2) have been associated with a range of cancer types, in particular of the breast and prostate. Protein-truncating mutations in CHEK2 have been reported to confer higher risks of cancer of the breast and the prostate than the missense I157T variant. In order to estimate the risks of colorectal cancer associated with truncating and missense CHEK2 mutations, we genotyped 1085 unselected colorectal cancer cases and 5496 controls for four… CONTINUE READING
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