Principal Investigators

• Timothy Rebbeck, Ph.D.
  University of Pennsylvania, Philadelphia, Pa.
• Barbara Weber, M.D.
  University of Pennsylvania, Philadelphia, Pa.
• Joellen Schildkraut, Ph.D.
  Duke University Medical Center, Durham, N.C.

Participating Institutions

• Mid-Atlantic Cancer Genetics Network
• Carolina-Georgia Center of the Cancer Genetics Network
• Northwest Cancer Genetics Network
• Rocky Mountain Cancer Genetics Coalition
• Texas Cancer Genetics Consortium
• UCI-UCSD Cancer Genetics Network
• University of Pennsylvania Cancer Genetics Network

Synopsis

This study is investigating some genetic and environmental factors that may influence the risk of breast cancer among women who have inherited BRCA1 or BRCA2 gene mutations. Individuals who have these mutations are at increased risk for breast and ovarian cancer, but there is considerable variation in this risk. The researchers are examining whether exposures including hormonal factors, and genes involved in hormone metabolism, carcinogen metabolism, and DNA repair modify risk for cancer in women who carry the BRCA1 or BRCA2 gene mutations.

The study enrolled women who:

• had inherited a BRCA1 or BRCA2 gene mutation (whether or not they have developed cancer), or
• had breast cancer (whether or not they have the BRCA1 or BRCA2 gene mutations).

Study participants provided personal and medical history information and a DNA biosample. Findings from this pilot study will be used to target larger studies of genes and exposures that modify breast cancer risk in BRCA1 and BRCA2 gene mutation carriers, and ultimately to provide an improved means of estimating cancer risk in these women.

View the protocol summary report.