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The risk of breast cancer in women with a CHEK2 mutation

Mutations in CHEK2 predispose to a range of cancer types including breast cancer. A meta-analysis of all association studies estimated the risk of breast cancer among carriers of 1100delC to be increased by 2.7-fold (9) and increased by 4.7-fold among carriers with a positive family history of breast cancer (Weischer M et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analysis of 26,000 patients cases and 27,000 controls. J Clin Oncol 2008; 26: 542-548). We estimated the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer. Out data suggest that carriers of a truncating mutation of CHEK2 (IVS2+1G>A, del5395, 1100delC) have 2.9 – fold increased risk of breast cancer in the Polish population. The risk was higher for women with at least one first-degree relative with breast cancer (OR = 4.5), and for women with at least one second-degree relative with breast cancer (OR = 3.5). If both a first- and second-degree relative was affected with breast cancer, the odds ratio was 6.4. We estimate the lifetime risks for carriers of CHEK2 truncating mutations to be from 21 to 37% depending family history of breast cancer in first- and second degree relatives. CHEK2 mutation screening detects a clinically meaningful risk of breast cancer.

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Correspondence to Cezary Cybulski.

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This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Cybulski, C., Wokołorczyk, D., Jakubowska, A. et al. The risk of breast cancer in women with a CHEK2 mutation. Hered Cancer Clin Pract 10, A5 (2012).

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  • Breast Cancer
  • Family History
  • Cancer Risk
  • Association Study
  • Breast Cancer Risk