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CHEK2 1100delC and male breast cancer in the Netherlands
Authors: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
Affiliation:(1) Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Center, PO Box 2040, 3000, CA, Rotterdam, The Netherlands;(2) Department of Pathology, Josephine Nefkens Institute, Erasmus University Medical Center, Rotterdam, The Netherlands;(3) Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands;(4) Department of Cancer Genomics Centre, Erasmus University Medical Center, Rotterdam, 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.
Keywords:Cancer susceptibility   CHEK2    CHK2   Male breast cancer
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