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BMC Med Genet. 2003 Jan 15;4:1. Epub 2003 Jan 15.

Frequency of CHEK2*1100delC in New York breast cancer cases and controls.

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  • 1Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.



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.

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