Regular Article

British Journal of Cancer (2001) 85, 209–212. doi:10.1054/bjoc.2001.1858 www.bjcancer.com
Published online 17 July 2001

Mutation analysis of the CHK2gene in families with hereditary breast cancer

M Allinen1, P Huusko1, S Mäntyniemi2, V Launonen3 and R Winqvist1

  1. 1Department of Clinical Genetics, University of Oulu/Oulu University Hospital, Oulu, Finland
  2. 2Department of Mathematical Sciences, University of Oulu, Oulu, Finland
  3. 3Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

Received 11 December 2000; Revised 6 March 2001; Accepted 20 March 2001.

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Abstract

Recently CHK2 was functionally linked to the p53 pathway, and mutations in these two genes seem to result in a similar Li–Fraumeni syndrome (LFS) or Li–Fraumeni-like syndrome (LFL) multi-cancer phenotype frequently including breast cancer. As CHK2 has been found to bind and regulate BRCA1, the product of one of the 2 known major susceptibility genes to hereditary breast cancer, it also more directly makes CHK2 a suitable candidate gene for hereditary predisposition to breast cancer. Here we have screened 79 Finnish hereditary breast cancer families for germline CHK2 alterations. Twenty-one of these families also fulfilled the criteria for LFL or LFS. All families had previously been found negative for germline BRCA1 BRCA2 and TP53 mutations, together explaining about 23% of hereditary predisposition to breast cancer in our country. Only one missense-type mutation, Ile157right arrowThr157, was detected. The high Ile157right arrow Thr157mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population. For Ile157right arrow Thr157our result deviates from what has been reported previously. © 2001 Cancer Research Campaign www.bjcancer.com

Keywords:

hereditary breast cancer, CHK2 mutations, Li–Fraumeni-like syndrome

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