Background: On average, Black women develop breast cancer ten years earlier than White women and are more likely to die from the disease. Early onset breast cancer is a hallmark feature of the BRCA1 and BRCA2 (BRCA) gene mutations and may contribute to a portion of breast cancers in Black women. Widespread availability of genetic testing for hereditary breast cancer has resulted in an increasing number of women considering their BRCA test results prior to surgical treatment decisions for their breast cancer surgery (e.g., consideration of a risk-reducing bilateral mastectomy, contralateral prophylactic mastectomy). However, little is known about use of BRCA testing prior to definitive surgery specifically among Black women. The purpose of this abstract is to describe baseline utilization of BRCA testing in Black breast cancer patients prior to surgery and to document the prevalence of BRCA mutations in a cohort of Black women with early onset breast cancer.

Methods: Black women diagnosed with invasive breast cancer ≤ age 50 between the years of 2005 and 2006 were recruited through the Florida Cancer Registry utilizing state-mandated recruitment methods. Participants completed genetic counseling and a comprehensive risk factor questionnaire including 7 items specific to referral and uptake of genetics clinical services. Biological specimens (either blood or saliva) were collected, and BRCA testing was performed.

Results: Of the 209 eligible cases, 48 women consented to study participation. Of the 46 women with usable biological specimens: the average age of diagnosis was 42.8 ±6.14 and 50% (n=23) reported a positive family history of breast cancer (i.e., ≥ 1 first and/or second-degree relative with breast cancer). A previous BRCA test was reported by 30.4% (n=14) of those completing the study with only 2 participants (4.3%) receiving a genetic test result prior to making a breast surgery decision. Seven women (15.2 %) chose a bilateral mastectomy, 4 of which were risk reducing. No association was observed between family history and the type of breast surgery elected. Mutations in the BRCA genes were identified in three participants (including 1 in BRCA1 and 2 in BRCA2). In 16 additional participants, there were a total of 28 variants of uncertain significance (VUS) identified.

Conclusions: Our results suggest that few Black women utilized genetic test results and/or family history to make surgical decisions for their breast cancer treatment despite data documenting similar BRCA prevalence rates in Black women with early onset breast cancers as those previously reported in White women. These findings highlight an important health disparity in access to and utilization of genetics services among Black women with breast cancer.

Citation Information: Cancer Epidemiol Biomarkers Prev 2011;20(10 Suppl):A71.