A community-based study of BRCA1/2 in high-risk African American women with breast cancer

A12

BACKGROUND. Due to the disproportionate numbers of African-American women affected with early onset breast cancer, we hypothesized that a subset of these women may have a genetic cause of their increased risk, such as BRCA1 and BRCA2 (BRCA1/2). METHODS. We conducted a community-based study investigating BRCA1/2 among 51 African American breast cancer patients with a personal or family history suggestive of hereditary predisposition to breast cancer. Patients were recruited through various sources, including physician referrals, advertisements, and community referrals. All individuals underwent genetic counseling, after which blood was drawn for BRCA1/2 mutation analysis. RESULTS. Of the 51 women tested for BRCA1/2 mutations, 3 were identified as mutation carriers (5.9 %), including one in BRCA1, and two in BRCA2. Risk estimates for carrying a mutation were higher on average for carriers (20.6%) compared to non-carriers (9.8%). Sources of recruitment included the physician referrals (34), newspaper advertisements and brochures (5), community or support group referrals (7), self/family referral (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; 2) mutation prevalence estimates based on Myriad mutation prevalence tables may reasonably predict mutation risk; and 3) BRCA1/2-associated breast cancer histopathology may be similar to that seen in Caucasians. Our study highlights the need to provide risk appropriate referral to genetic services for African American breast cancer patients.