Germline BRCA Mutation and Clinical Outcomes in Breast Cancer Patients Focusing on Survival and Failure Patterns: A Long-Term Follow-Up Study of Koreans

• Main Authors: Hakyoung Kim, Doo Ho Choi, Won Park
• Format: Article
• Language: English
• Published: MDPI AG 2020-10-01
• Series: Medicina
• Subjects: breast cancer; BRCA mutation; survival analysis; recurrence
• Online Access: https://www.mdpi.com/1010-660X/56/10/514

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