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

BMC Med Genet. 2003 Jan 15;4:1. doi: 10.1186/1471-2350-4-1. Epub 2003 Jan 15.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / ethnology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms, Male / epidemiology
  • Breast Neoplasms, Male / ethnology
  • Breast Neoplasms, Male / genetics
  • Checkpoint Kinase 2
  • Cytosine*
  • Female
  • Gene Frequency / genetics*
  • Genotype
  • Humans
  • Jews / genetics
  • Male
  • New York / epidemiology
  • Point Mutation / genetics*
  • Protein Kinases / genetics*
  • Protein-Serine-Threonine Kinases*
  • Sequence Deletion / genetics*

Substances

  • Cytosine
  • Protein Kinases
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein-Serine-Threonine Kinases