Background: Due to the disproportionate numbers of African American women affected with early onset breast cancer, we sought to investigate mutation frequency of BRCA1 and BRCA2 (BRCA1/2) in a sample of African American women, recruited through a variety of methods.
Methods: We conducted a study investigating BRCA1/2 among 51 African American breast cancer patients with a personal or family history suggestive of hereditary predisposition to breast cancer. All individuals underwent genetic counseling and BRCA1/2 mutation analysis, through protein-truncation test on exon 11 of BRCA1 and exons 10 and 11 of BRCA2, which together account for approximately 50% of mutations observed within these genes.
Results: Of the 51 women tested for BRCA1/2 mutations, 3 were identified as mutation carriers (5.9%), including 1 in BRCA1 and 2 in BRCA2. Recruitment strategies varied and included physician referrals from the Moffitt Cancer Center Breast Program (18), community-based oncologists (13), primary care physicians (3), newspaper advertisements and brochures (5), community or support group referrals (7), self/family referral through word of mouth (2), and the Florida State Cancer Registry (3).
Conclusions: Our results suggest that (1) BRCA1/2 mutations are seen in high-risk African American women with breast cancer, and (2) strategies for recruitment of African American women in studies of genetic testing for breast cancer genes have varied levels of success. Our study highlights the need for further studies in this population group.