Abstract 126: BRCA-positivity: Multicultural scenes from the rear view mirror .

Abstract Background: To date, BRCA1 and BRCA2 mutations have been associated with specific breast cancer subtypes and patient demographics. BRCA testing has predominantly been performed in the Caucasian population. Certain breast cancer subtypes such as Triple Negative Breast Cancer (TNBC), have previously been associated with African American (AA) women and BRCA1 positivity. Novel targeted agents such as PARP inhibitors may be beneficial for TNBC and BRCA-positive cancers. Appropriate genetic referral and testing could influence patient treatment options. We sought to determine the patterns of patient referral and outcome for BRCA testing at Thomas Jefferson University Hospital (TJUH). Methods: After obtaining IRB approval, a retrospective case review was performed to identify women who proceeded with genetic counseling from January 2008 through May 2012. Patients with positive genetic tests were assessed. Pathology reports of mutation-positive women were reviewed. Patient characteristics such as ethnicity were confirmed from genetic counseling records. Findings: 461 new patients were seen for genetic counseling from January 2008 through May 2012. 309 (67%) proceeded with BRCA genetic testing and 26 (9%) were found to carry a deleterious BRCA1 or BRCA2 mutation. Hormone receptor profiles, age at diagnosis, and ethnic background varied among mutation carriers. The predominant ethnic background represented in TJUH mutation carriers is now AA. In 2008-2009 (24 months), only one AA woman was diagnosed with a BRCA mutation; however, from 2010-May 2012 (29 months), 9 AA women and 2 Hispanic women were diagnosed as BRCA-mutation carriers. Conclusions: BRCA-positive patients have diverse demographic and hormone receptor profiles. Although we found that TNBC remains associated with BRCA1 carriers and estrogen positivity with BRCA2 carriers, it is not absolute. A recent shift has noted substantially more AA women being diagnosed with BRCA mutations. While this may indicate that more diverse populations are being referred for genetic counseling, more importantly, it suggests that diverse populations are becoming more receptive to participating in genetic counseling and when appropriate, receiving genetic testing. Citation Format: Susan Miller-Samuel, Nicole Simone, Anne L. Rosenberg. BRCA-positivity: Multicultural scenes from the rear view mirror . [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 126. doi:10.1158/1538-7445.AM2013-126 Note: This abstract was not presented at the AACR Annual Meeting 2013 because the presenter was unable to attend.