Principal Investigator:

• Joellen Schildkraut, Ph.D.
  Duke University Medical Center

Participating Institutions:

• Dana Farber Cancer Institute
• Georgetown University
• Johns Hopkins Universtiy
• Moffitt Cancer Center
• University of Texas, Southwestern
• University of California at Irvine
• Vanderbilt University
• University of Pennsylvania
• University of North Carolina
• Duke University

Synopsis

This study is investigating genetic 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 expanding on a small pilot study that examined whether exposures including hormonal factors, and genes involved in hormone metabolism, carcinogen metabolism, and DNA repair modified risk for cancer in women who carry the BRCA1 or BRCA2 gene mutations. The study is enrolling women who both:

• have been tested for mutations in BRCA1 and BRCA2, AND
• have had breast cancer (including DCIS and LCIS).

Study participants provide personal and medical history information, pathology records and a DNA biosample.

The goal of this study is to assess gene-gene interactions between BRCA1/2 and polymorphisms in DNA damage and repair genes. Ultimately, it is hoped that this will provide an improved means of estimating cancer risk in women with BRCA1 and BRCA2 mutations.

View the protocol summary report.