Abstract P2-09-08: Universal BRCA testing and family outreach for women with triple negative breast cancer
Authors: Emborgo T , Muse KI , Bednar E , Oakley HD , Litton J , Lu KH , Arun BK 
Published: May 2016

Background Germline mutations in BRCA1 or BRCA2 significantly increase the lifetime risk for a woman to develop breast and ovarian cancers. Triple negative breast cancer (TNBC) is enriched for BRCA mutations, with approximately 20% of unselected TNBC patients having a BRCA1 or BRCA2 mutation. Current guidelines recommend individuals with TNBC age 60 or younger undergo BRCA genetic testing. Studies suggest that expanding testing beyond age 60 may capture additional BRCA positive women. Identification of a BRCA mutation has significant implications for early cancer detection and prevention, treatment options, and at-risk blood relatives. Many at-risk relatives are not aware of, or pursue genetic testing for mutations identified in their family. Our previous prediction models have shown that testing all at-risk first degree relatives of TNBC patients may reduce the risk of breast and ovarian cancers by 23%, and 41%. Few studies exist regarding the occurrence or success of intra-family cascade genetic testing. Study Design This study is conducted through the University of Texas MD Anderson Cancer Center's Women's Cancer Moonshot program. This is a five year prospective cohort study of unselected women with confirmed TNBC. It provides universal BRCA genetic testing for TNBC patients. TNBC patients are enrolled in a research registry which provides clinical BRCA genetic testing regardless of age of diagnosis. BRCA positive TNBC patients are consented for a separate prospective family outreach protocol (REACH registry). The REACH registry includes questionnaires and active outreach to at-risk family members using an innovative information-technology platform and a variety of web-based patient education tools. Results In year one of our study, a total of 439 patients with TNBC have been seen for genetic counseling and 377 (86%) have undergone BRCA genetic testing. Fifty-one (14%) patients were identified as having a BRCA mutation. Of those with a BRCA mutation, 48 (94%) have a BRCA1 mutation, 3 (6%) have a BRCA2 mutation and 1 (2%) would not have been identified by current testing guidelines. Further, 74 patients with identified BRCA mutations and 50 at-risk family members have enrolled in the REACH registry. Recruitment and data collection of patients and family members, and their communication, genetic testing, cancer risk reduction, and surgical choices are on-going. Using our innovative IT platform to collect information and to communicate with patients and families, we anticipate an increased study recruitment, patient and family participation, and ultimately improved awareness, education, and cancer-prevention and screening among our patients and their family members. Conclusion Through this study we have maximized awareness and identification of high-risk hereditary cancer patients through implementation of universal BRCA1 and BRCA2 genetic testing of all TNBC patients. We have shown initial feasibility to successfully recruit family members to our REACH registry. REACH registry is an innovative research platform providing education and awareness to patients and at-risk family members to aid communication and dissemination of BRCA test results and to assess the psychosocial and behavioral impacts of a mutation in a family.

Citation Format: Emborgo T, Muse KI, Bednar E, Oakley HD, Litton J, Lu KH, Arun BK. Universal BRCA testing and family outreach for women with triple negative breast cancer. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P2-09-08.