David D Stenehjem1,2, Claire Telford3,4, Sudhir K Unni5,6, Hillevi Bauer5, Amy Sainski5,7, Rishi Deka5,8, Marisa B Schauerhamer5, Xiangyang Ye5, Casey R Tak5,9, Junjie Ma5,10, Tapashi B Dalvi3, Lia Gutierrez11, James A Kaye12, Jerzy E Tyczynski3,13, Diana I Brixner5, Joseph E Biskupiak5. 1. Department of Pharmacotherapy, College of Pharmacy, University of Utah, Salt Lake City, UT, USA. stene032@d.umn.edu. 2. Department of Pharmacy Practice and Pharmaceutical Sciences, College of Pharmacy, University of Minnesota, 1110 Kirby Drive, 232 Life Science, Duluth, MN, 55812, USA. stene032@d.umn.edu. 3. AstraZeneca Pharmaceuticals, Gaithersburg, MD, USA. 4. GlaxoSmithKline, 5 Moore Drive, Research Triangle Park, NC, 27709, USA. 5. Department of Pharmacotherapy, College of Pharmacy, University of Utah, Salt Lake City, UT, USA. 6. Daiichi-Sankyo, Basking Ridge, NJ, USA. 7. Truven Health, Ann Arbor, MN, USA. 8. University of Southern California, San Diego, CA, USA. 9. Division of Pharmaceutical Outcomes and Policy, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA. 10. Amgen Inc, Thousand Oaks, CA, 91320, USA. 11. RTI Health Solutions, Barcelona, Spain. 12. RTI Health Solutions, Waltham, MA, USA. 13. AbbVie Inc, Pharmacovigilance and Patient Safety, North Chicago, IL, USA.
Abstract
MAIN PURPOSE: Germline BRCA mutations (BRCAm) strongly influence the risk of developing breast cancer. This study aimed to understand the role of BRCAm testing in affected individuals and to assess its impact on the outcome of BRCAm carriers compared to non-carriers (BRCAwt) with breast cancer. RESEARCH QUESTION: The research question is "Does standard of care testing for BRCAm improve survival outcomes of breast cancer patients?" METHODS: In a single institution observational cohort study, demographic and clinical characteristics were compared between breast cancer patients with and without BRCAm. Frequency of BRCA testing was assessed. Survival outcomes were assessed by initial treatment setting stratified by BRCA status. RESULTS: Of 5712 identified women with breast cancer, 14.6% (n = 835) were tested for a BRCA mutation and had a documented result. The total number and proportion of women tested for a BRCAm increased between 2000 and 2014, resulting in an increased number of BRCAm carriers identified. However, the proportion of women who underwent testing and had a BRCAm decreased during the study period from 27.5% in 2000-2004 to 13.3% in 2010-2014. Disease-free survival was similar in the adjuvant and neoadjuvant treatment settings between BRCAm and BRCAwt patients. Progression-free survival on first line treatment and overall survival for patients with metastatic disease was also similar between BRCAm and BRCAwt patients. CONCLUSIONS: The proportion of women tested and the number of BRCAm identified increased during the study period despite a decreasing proportion of positive results among women tested.
MAIN PURPOSE: Germline BRCA mutations (BRCAm) strongly influence the risk of developing breast cancer. This study aimed to understand the role of BRCAm testing in affected individuals and to assess its impact on the outcome of BRCAm carriers compared to non-carriers (BRCAwt) with breast cancer. RESEARCH QUESTION: The research question is "Does standard of care testing for BRCAm improve survival outcomes of breast cancerpatients?" METHODS: In a single institution observational cohort study, demographic and clinical characteristics were compared between breast cancerpatients with and without BRCAm. Frequency of BRCA testing was assessed. Survival outcomes were assessed by initial treatment setting stratified by BRCA status. RESULTS: Of 5712 identified women with breast cancer, 14.6% (n = 835) were tested for a BRCA mutation and had a documented result. The total number and proportion of women tested for a BRCAm increased between 2000 and 2014, resulting in an increased number of BRCAm carriers identified. However, the proportion of women who underwent testing and had a BRCAm decreased during the study period from 27.5% in 2000-2004 to 13.3% in 2010-2014. Disease-free survival was similar in the adjuvant and neoadjuvant treatment settings between BRCAm and BRCAwt patients. Progression-free survival on first line treatment and overall survival for patients with metastatic disease was also similar between BRCAm and BRCAwt patients. CONCLUSIONS: The proportion of women tested and the number of BRCAm identified increased during the study period despite a decreasing proportion of positive results among women tested.
Entities:
Keywords:
BRCA testing; Breast cancer; Survival; Systemic treatment
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