Evaluation of 11 breast cancer susceptibility loci in African-American women

Cancer Epidemiol Biomarkers Prev. 2009 Oct;18(10):2761-4. doi: 10.1158/1055-9965.EPI-09-0624. Epub 2009 Sep 29.


Recent genome-wide association studies (GWAS) have identified multiple common genetic risk variants for breast cancer among women of Asian and European ancestry. Investigating these genetic susceptibility loci in other populations would be helpful to evaluate the generalizability of the findings and identify the causal variants for breast cancer. We evaluated 11 GWAS-identified genetic susceptibility loci for breast cancer in a study including 2,594 African-American women (810 cases and 1,784 controls). Two single-nucleotide polymorphisms, rs13387042 (2q35) and rs1219648 (FGFR2 gene), were found to be associated with breast cancer risk. Risk increased nearly linearly with the number of affected risk alleles, with a 2-fold elevated risk for women homozygous for the risk alleles in both single-nucleotide polymorphisms. No additional significant associations, however, were identified for the other nine loci evaluated in the study. The results from this study extend some of the recent GWAS findings to African-Americans and may guide future efforts to identify the causal variants for breast cancer.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • African Americans / genetics*
  • Breast Neoplasms / ethnology*
  • Breast Neoplasms / genetics*
  • Cohort Studies
  • Disease Susceptibility
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Polymorphism, Single Nucleotide
  • Prospective Studies