1. Frequency of CHEK2*1100delC in New York breast cancer cases and controls.
- Author
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Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, and Ellis N
- Subjects
- Breast Neoplasms epidemiology, Breast Neoplasms ethnology, Breast Neoplasms, Male epidemiology, Breast Neoplasms, Male ethnology, Breast Neoplasms, Male genetics, Checkpoint Kinase 2, Female, Genotype, Humans, Jews genetics, Male, New York epidemiology, Alleles, Breast Neoplasms genetics, Cytosine, Gene Frequency genetics, Point Mutation genetics, Protein Kinases genetics, Protein Serine-Threonine Kinases, Sequence Deletion genetics
- Abstract
Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear., Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC., Results: The overall frequency of the 1100delC was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls., Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.
- Published
- 2003
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