Abstract

The purpose of this study was to evaluate the effect of BRCA mutation on survival and recurrence rate, focusing on risk of ipsilateral recurrence and contralateral breast cancer in breast cancer patients who underwent genetic screening for BRCA1/2 mutation and were treated at Samsung Medical Center. We retrospectively reviewed medical records of 300 patients with breast cancer who underwent genetic screening for BRCA1/2 genes and were treated at Samsung Medical Center between January 1, 2000 and December 31, 2010. Ultimately, clinical outcomes of 273 patients were analyzed. The median follow-up duration was 102 months (range, 1 to 220 months). BRCA1/2-mutated tumors had shorter 10-year disease-free survival (DFS) rate compared to those with non-mutated tumors (62.8% vs. 80.0%, p = 0.02). Regarding failure patterns, BRCA1/2-mutated tumors showed higher incidence of contralateral breast cancer than non-mutated tumors (BRCA1/2 non-mutated vs. mutated tumors: 4.9% vs. 26.0%, p < 0.001). BRCA mutation status remained a significant prognostic factor for contralateral breast recurrence-free survival (HR: 4.155, 95% CI: 1.789-9.652; p = 0.001). Korean patients having BRCA mutation showed inferior DFS compared to those without BRCA mutation. BRCA mutation status is a strong predictor of recurrence in contralateral breast. Strategies such as prophylactic treatment and active surveillance should be discussed with breast cancer patients who have BRCA mutations.

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