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Background: The RS assay is a validated prognosticator/predictor of chemotherapy (CT) benefit in ER+ HER2-negative early-stage breast cancer (BC). It is offered to pts irrespective of BRCA1/2 status. We compared RS results, single-gene expression and gene group scores, between pts with germline BRCA1/2 mutations and the general BC pt population undergoing RS testing. Treatments/outcomes in the mBRCA1/2 cohort were also examined. Methods: This real-life retrospective cohort study included consecutive ER+ HER2-negative mBRCA1/2 female carriers BC pts who had RS testing in 2004-2015. RS and gene expression data were compared to a previously described commercial use database (DB) (J Surg Oncol. 2020;122:611). Chi-square test and 1-sample t-test were used to compare RS distribution and single gene/gene group scores, respectively, between the cohort and the DB. Independent sample t-test was used to compare gene expression/gene group scores across pt subgroups within the mBRCA1/2 cohort. Fisher’s test/logistic regression were used to identify variables associated with distant recurrence in the mBRCA1/2 cohort. Results: The analysis included 81 pts in the mBRCA1/2 cohort and 799,986 BC samples in the DB. Age at diagnosis was younger in the mBRCA1/2 pts vs the DB (median [IQR], 56 [47-61.5] vs 60 [51-67] yrs; P Conclusions: Both mBRCA1 and mBRCA2 carriers are characterized by higher RS results that stem from a distinct gene expression profile of most genes in the RS assay. Single Gene Expression and Gene Group Scores vs the Commercial Use DB Citation Format: Rinat Yerushalmi, Adi Pomerantz, Ron Lewin, Shani Paluch-Shimon, Lior Soussan-Gutman, Frederick Baehner, Hillary Voet, Avital Bareket-Samish, Inbal Kedar, Yael Goldberg, Tamar Peretz-Yablonski, Luna Kadouri. ER+ HER2-negative mBRCA1/2 carriers breast cancer patients (n=81): Clinical outcomes and molecular characterization via the 21-gene Breast Recurrence Score (RS) test vs the general RS-tested population (799,986 samples) [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P3-05-59. |
