CHEK2 1100delC and male breast cancer in the Netherlands

Marijke Wasielewski, Michael A. Den Bakker, Ans Van Den Ouweland, Marion E. Meijer-Van Gelder, Henk Portengen, Jan G.M. Klijn, Hanne Meijers-Heijboer, John A. Foekens, Mieke Schutte*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

Original languageEnglish
Pages (from-to)397-400
Number of pages4
JournalBreast Cancer Research and Treatment
Volume116
Issue number2
DOIs
Publication statusPublished - Jul 2009

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