Frequency of <it<CHEK2*1100delC</it< in New York breast cancer cases and controls

<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 Fin...
Ausführliche Beschreibung

<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< Ausführliche Beschreibung