title: CHEK2 1100delC and male breast cancer in the Netherlands.
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.
authors.affiliation: Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Center, CA, Rotterdam, The Netherlands.
authors.forename: Marijke
authors.initials: M
authors.lastname: Wasielewski
authors.forename: Michael A
authors.initials: MA
authors.lastname: den Bakker
authors.forename: Ans
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: Marion E
authors.initials: ME
authors.lastname: Meijer-van Gelder
authors.forename: Henk
authors.initials: H
authors.lastname: Portengen
authors.forename: Jan G M
authors.initials: JG
authors.lastname: Klijn
authors.forename: Hanne
authors.initials: H
authors.lastname: Meijers-Heijboer
authors.forename: John A
authors.initials: JA
authors.lastname: Foekens
authors.forename: Mieke
authors.initials: M
authors.lastname: Schutte