Frequency of CHEK2*1100delC in New York breast cancer cases and controls. Academic Article uri icon

Overview

MeSH

  • Breast Neoplasms, Male
  • Checkpoint Kinase 2
  • Female
  • Genotype
  • Humans
  • Jews
  • Male
  • New York

MeSH Major

  • Alleles
  • Breast Neoplasms
  • Cytosine
  • Gene Frequency
  • Point Mutation
  • Protein Kinases
  • Protein-Serine-Threonine Kinases
  • Sequence Deletion

abstract

  • 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.

publication date

  • January 15, 2003

has subject area

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

Research

keywords

  • Journal Article

Identity

Language

  • eng

PubMed Central ID

  • PMC149355

PubMed ID

  • 12529183

Additional Document Info

start page

  • 1

volume

  • 4