Frequency of CHEK2*1100delC in New York breast cancer cases and controls
1 Departments of Medicine and Biostatistics and Epidemiology, Memorial Sloan-Kettering Cancer Center, New York, N.Y, USA
2 Center for Genomics and Human Genetics, North Shore Long Island Jewish Research Institute, Manhasset, N.Y, USA
3 Department of Bioinformatics, Columbia University, New York, N.Y, USA
BMC Medical Genetics 2003, 4:1 doi:10.1186/1471-2350-4-1Published: 15 January 2003
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.
We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC.
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.
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.