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

• Main Authors: Robson Mark (Author), Satagopan Jaya (Author), Huang Helen (Author), Yossepowitch Orit (Author), Johnson Steven (Author), Gregersen Peter (Author), Rapaport Beth (Author), Kolachana Prema (Author), Kirchhoff Tomas (Author), Pierce Heather (Author), Offit Kenneth (Author), Scheuer Lauren (Author), Nafa Khedoudja (Author), Ellis Nathan (Author)
• Format: Book
• Published: BMC, 2003-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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>

Item Description

10.1186/1471-2350-4-1
1471-2350