Journal of Mammary Gland Biology and Neoplasia

, Volume 9, Issue 3, pp 221–236

The Genetic Epidemiology of Breast Cancer Genes

  • Deborah Thompson
  • Douglas Easton

DOI: 10.1023/B:JOMG.0000048770.90334.3b

Cite this article as:
Thompson, D. & Easton, D. J Mammary Gland Biol Neoplasia (2004) 9: 221. doi:10.1023/B:JOMG.0000048770.90334.3b


Genetic susceptibility to breast cancer in women is conferred by a large number of genes, of which six have so far been identified. In the context of multiple-case families, BRCA1 and BRCA2 are the most important. Mutations in these genes confer high lifetime risks of breast cancer and ovarian cancer, and more moderate risks of prostate cancer and some other cancer types. Mutations in the CHEK2 and ATM genes, by contrast, cause much more modest (2–4 fold) risks of breast cancer. Genes so far identified explain approximately 20% of the familial aggregation of breast cancer. The remaining susceptibility genes have, so far, proved illusive, suggesting that they are numerous and confer moderate risks. A variety of techniques including genome-wide association studies, use of quantitative intermediate endpoints, and resequencing of genes may be required to identify them. The identification of such genes can provide a basis for targeted prevention of breast cancer.


Copyright information

© Springer Science+Business Media, Inc. 2004

Authors and Affiliations

  • Deborah Thompson
    • 1
  • Douglas Easton
    • 1
  1. 1.Cancer Research U.K. Genetic Epidemiology UnitUniversity of CambridgeCambridgeU.K