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. 2001 Jul;85(2):209–212. doi: 10.1054/bjoc.2001.1858

Mutation analysis of the CHK2 gene in families with hereditary breast cancer

M Allinen 1, P Huusko 1, S Mäntyniemi 2, V Launonen 3, R Winqvist 1
PMCID: PMC2364033  PMID: 11461078

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, Ile157→Thr157, was detected. The high Ile157 → 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 Ile157 → Thr157our result deviates from what has been reported previously. © 2001 Cancer Research Campaign http://www.bjcancer.com

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

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Selected References

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