Abstract
Evidence on the prognostic relevance of BRCA1/2 mutations on breast cancer survival is still debatable. To address this ambiguity, we sought to elucidate the impact of BRCA1/2 mutation carriership on long-term clinical outcomes for the first time in Egyptian female breast cancer patients. This study comprised 103 Egyptian female breast cancer patients previously tested for BRCA1/2 mutations. Clinicopathological characteristics and long-term follow-up data were retrieved from clinical records until death or loss to follow-up. Overall survival (OS), recurrence-free survival (RFS), disease-free survival (DFS), and metastasis-free survival (MFS) were compared in BRCA1/2 mutation carriers and non-carriers. Pathogenic variants (Class 5 according to ACMG/AMP guidelines) were observed in 29 cases. The profile of the detected variants was previously reported. After median follow-up time of 6.9 years (range, 4.2-24.4 years), BRCA1/2 carriers exhibited significantly worse RFS compared to non-carriers (p = 0.01; HR = 3.00 (95%CI 1.35-6.68)). However, we couldn't demonstrate statistically significant difference between carriers of pathogenic mutations and non-carriers regarding MFS (p = 0.24; HR = 1.38 (95%CI 0.8-2.4)), DFS (p = 0.11; HR = 1.23 (95%CI 0.74-2.06)), or OS (p = 0.36; HR = 1.23 (95%CI 0.58-2.61)). Though no significant impact was observed in OS, yet BRCA1/2 mutation carriers were at high risk of recurrence, highlighting the importance of adopting BRCA screening strategies and prophylactic measures.