Introduction: Clinical findings regarding the impact of BRCA1/2 mutational status on the prognosis of breast cancer patients are still controversial. We aimed to investigate the prognostic relevance of BRCA1/ 2 mutations on recurrence and long-term survival, for the first time, in Egyptian female breast cancer patients. Patients and Methods: The study cohort comprised 103 Egyptian female breast cancer patients previously tested for BRCA1/2 mutations using HRM analysis and direct sequencing. Clinicopathological and long-term clinical follow-up data including date and site of disease progression, were retrieved from medical records until death or loss to follow-up. Outcome measures including overall survival (OS), disease-free survival (DFS), recurrence-free survival, and metastasis-free survival (MFS) were compared in all BRCA1/ 2 mutation carriers versus non-carriers at 2, 5, 10, and 15 years after diagnosis. Results: The profile of the detected variants was previously reported. The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines were used to re-classify the variants. The median follow-up time was 6.9 years (range, 4.2-24.4 years). BRCA carriers had significantly worse DFS than non-carriers, at 2 years 86.7% vs 88.2%; at 5 years 38.1% vs 57.8%; and at 10 years 21.6% vs 34.1% ( P=0.024). Negative estrogen receptor (ER) status (HR=2.44, 95%CI=1.33-4.47) and large tumor size (HR=2.19, HR=1.21-3.98) were also significant factors for worse DFS. Recurrence-free survival was significantly worse in BRCA carriers compared to non-carriers, at 5 years: 95.2% vs 98.2%; at 10 years: 54.4% vs 79.8%; and at 15 years 34.6% vs 61.7% ( P=0.005). BRCA carriers showed poorer OS and MFS, though not statistically significant [OS in BRCA carriers and non-carriers at 5 years: 81.6% vs 89.3%; at 10 years: 59.2% vs 60.6%; and at 15 years: 36.3 vs 59.2% ( P=0.42); and MFS at 2 years 86.7% vs 88.1%; at 5 years 44.5% vs 61.1% ; and at 10 years: 25.3% vs 38.2% ( P=0.41)]. Conclusion: To our knowledge, this is the first study in the Middle East to investigate long-term survival outcome of BRCA1/2 related breast cancer. We, herein, underline the necessity of implementing BRCA screening strategies and intensive surveillance in the mainstream oncology practice in Egypt.
Nipple sparing mastectomy in breast cancer patients and long-term survival outcomes: An analysis of the SEER database