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

Kenneth Offit, Heather Pierce, Tomas Kirchhoff, Prema Kolachana, Beth Rapaport, Peter Gregersen, Steven Johnson, Orit Yossepowitch, Helen Huang, Jaya Satagopan, Mark Robson, Lauren Scheuer, Khedoudja Nafa, Nathan Ellis

Research output: Contribution to journalArticle

98 Scopus citations

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.

Original languageEnglish (US)
Article number1
JournalBMC Medical Genetics
Volume4
DOIs
StatePublished - Jan 15 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Frequency of CHEK2*1100delC in New York breast cancer cases and controls'. Together they form a unique fingerprint.

  • Cite this

    Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., Rapaport, B., Gregersen, P., Johnson, S., Yossepowitch, O., Huang, H., Satagopan, J., Robson, M., Scheuer, L., Nafa, K., & Ellis, N. (2003). Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics, 4, [1]. https://doi.org/10.1186/1471-2350-4-1