| Summary: | <p>Abstract</p> <p>Background</p> <p>The <it>1100delC CHEK2 </it>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 <it>1100delC </it>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.</p> <p>Methods</p> <p>We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the <it>CHEK2*1100delC</it>.</p> <p>Results</p> <p>The overall frequency of the <it>1100delC </it>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.</p> <p>Conclusion</p> <p>The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for <it>CHEK2*1100delC </it>in North American kindreds.</p>
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