Abstract PS8-28: Outreach to families with known BRCA mutation through the reach (research, education, and awareness of cancer family history) registry
Authors: Green Sierra , Kaulfus Meagan , Barrera Angelica Gutierrez , Lu Karen , Arun Banu 
Published: February 2021

Abstract
Background: Women with germline mutations in the BRCA1 or BRCA2 (BRCA1/2) genes have a significantly increased lifetime risk of developing breast and ovarian cancers. Since approximately 5-10% of breast and ovarian cancer is due to a hereditary predisposition, identification of a BRCA1/2 mutation has significant implications for early cancer detection, prevention, and cancer treatment options. Additionally, identifying women with a BRCA1/2 mutation allows for targeted, family-based cancer screening and prevention in their at- risk relatives. Any first degree relative (parents, siblings, and children) of an individual identified to carry a BRCA1/2 mutation has a 50% chance of carrying the same mutation. However, little is known if and how genetic test results are conveyed to family members and what they do with this information. UT MD Anderson Cancer Center initiated a project REACH (Research, Education and Awareness of Cancer Family History) that aims to maximize the identification of hereditary breast and ovarian cancer in at-risk family members of individuals identified to have a BRCA1/2 mutation (pathogenic variant or variant of uncertain significance). Here we present the infrastructure and initial feasibility of this prospective initiative. Methods: This study is conducted through the University of Texas MD Anderson Cancer Center’s Women Cancer Moonshot and Clinical Cancer Genetics program at MD Anderson. The probands consists of BRCA1/2 positive triple negative breast cancer (TNBC) patients that underwent universal BRCA testing between 2014-2019 on a preceding Universal BRCA Testing registry (published elsewhere) and BRCA1/2 positive patients that presented to the breast center clinic. Probands are consented for a prospective family outreach protocol (REACH registry) where they give us permission to contact their relatives. The REACH registry includes questionnaires (related to family communication, genetic testing, cancer risk reduction, and surgical choices), optional yearly follow ups, and active outreach to at-risk family members using an innovative information-technology platform and a variety of web-based patient education tools. Results: Since 2014 a total of 122 probands with TNBC and a BRCA germline mutation were enrolled into the REACH registry and of those 92 (75.4%) completed the baseline questionnaire. Of the 62 second year follow up questionnaires sent, 42 (67.8%) were completed. Before pausing study activities in 2017 (due to funding), of the 18 third year follow up questionnaires sent, 5 (27%) were completed. We were able to enroll 38 at-risk family members of TNBC probands into the registry. 31 (81%) of the family members completed the baseline questionnaire. Of the 26 second year follow up questionnaires sent to family members, 17 (65.4%) were completed. Before a pause in study, of the 10 year three questionnaires sent, 7 (70%) were completed. The study restarted in 2019, recruitment, questionnaires and web-based education are on-going. Conclusion: We have shown that it is feasible to develop a practical infrastructure that allows us to continue communication with our proband and to connect with their at-risk relatives to further communicate with them issues related to genetic testing, interpretation, implications and screening. The next phase will include to offer virtual genetic counseling and testing family members.
Citation Format: Sierra Green, Meagan Kaulfus, Angelica Gutierrez Barrera, Karen Lu, Banu Arun. Outreach to families with known BRCA mutation through the reach (research, education, and awareness of cancer family history) registry [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PS8-28.