Outcomes and treatment patterns in germline BRCA1/2 carriers from two matched cohort studies.
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Morganti Stefania, Kim Se E, Jin Qingchun, Cha Jaeyoon, Zeigler Jacqueline E, Newman Alexandra B, Kirkner Gregory J, Snow Craig, Zheng Yue, Vincuilla Julie, Parker Tonia, Buehler Ryan M, Bychkovsky Brittany L, Dibble Kate E, Sella Tal, Ruddy Kathryn J, Rosenberg Shoshana M, Collins Laura C, Peppercorn Jeffrey, Schapira Lidia, Borges Virginia F, Guzman-Arocho Yaileen D, Come Steven E, Warner Ellen, Poorvu Philip D, Lambertini Matteo, Curigliano Giuseppe, Hughes Melissa E, Mittendorf Elizabeth A, King Tari A, Lin Nancy U, Garber Judy E, Tayob Nabihah, Tolaney Sara M, Partridge Ann H, Lynce Filipa
Аннотация
METHODS: We conducted 2 retrospective, matched cohort studies comparing gBRCA1/2 PV carriers and noncarriers with HER2-negative, stage I-III breast cancer (Clinical Outcomes Quality Database [COQD] cohort: 185 carriers, 555 noncarriers; Young Women's Breast Cancer Study [YWS] cohort: 113 carriers, 226 noncarriers). Matching factors were age, stage, hormone receptor status, and year of diagnosis. Clinicopathological features, treatments, and survival outcomes were compared between carriers and noncarriers.
RESULTS: Most patients in COQD had stage I-II disease (87.2%), and more carriers than noncarriers had genetic testing before diagnosis (33% vs 5.6%, P < .001). In YWS, 22.7% of patients had stage III tumors, and few were tested before diagnosis (14.8% of carriers vs 1.7% of noncarriers; P < .001). Carriers in COQD received chemotherapy more often than noncarriers (81.1 vs 67.0%, P < .001), including platinum (P = .010); the proportion was similar for carriers and noncarriers in YWS. After adjusting for chemotherapy, relapse-free survival was longer in carriers than noncarriers in COQD (adjusted hazard ratio = 0.48 [95% CI = 0.26 to 0.87], P = .016), and a favorable trend was observed for other survival outcomes in both cohorts. Triple-negative tumors appeared to drive the differences.
CONCLUSIONS: We observed a trend toward improved outcomes in gBRCA1/2 PV carriers compared with noncarriers. These findings suggest that carriers should not receive more aggressive treatment solely based on their germline mutation status. Prospective clinical trials in this population are warranted.