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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.

Author information

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

Abstract

BACKGROUND:

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.

METHODS:

We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC.

RESULTS:

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.

CONCLUSION:

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.

PMID:
12529183
[PubMed - indexed for MEDLINE]
PMCID:
PMC149355
Free PMC Article
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