RESUMO
BACKGROUND: Deleterious germline mutations in BRCA1 and BRCA2 genes are associated with a high risk of breast and ovarian cancer. In many developing countries, including Egypt, the prevalence of BRCA1/2 mutations among women with breast cancer (BC) is unknown. AIM: We aimed to determine the prevalence of deleterious germline BRCA mutations in Egyptian patients with breast cancer. METHODS: We report the results of a cohort study of 81 Egyptian patients with breast cancer who were tested for germline BRCA1/2 mutations during routine clinical practice, mostly for their young age of presentation, BC subtype, or presence of family history. In addition, we searched five databases to retrieve studies that reported the prevalence of BRCA1/2 mutation status in Egyptian women with BC. A systematic review of the literature was performed, including prospective and retrospective studies. RESULTS: In our patient cohort study, 12 patients (14.8%) were positive for either BRCA1/2 deleterious mutations. Moreover, 13 (16.1%) patients had a variant of unknown significance (VUS) of BRCA1/2 genes. Twelve studies were eligible for the systematic review, including 610 patients. A total of 19 deleterious germline mutations in BRCA1/2 were identified. The pooled prevalence of BRCA1/2 mutations was 40% (95% confidence interval 1-80%). CONCLUSION: The reported prevalence was highly variable among the small-sized published studies that adopted adequate techniques. In our patient cohort, there was a high incidence of VUS in BRCA1/2 genes. Accordingly, there is an actual demand to conduct a prospective well-designed national study to accurately estimate the prevalence of BRCA1/2 mutations among patients with BC in Egypt.
RESUMO
PURPOSE: Breast cancer (BC) is the most common cancer among Egyptian females. No current national cancer database is available in Egypt to provide reliable data on the specific clinicopathologic features of BC in this population. Herein, we investigated the clinical profile of BC among Egyptian women. METHODS: A systematic review of studies on BC published from inception until December 2021 was performed. We explored pooled estimated proportions of different stages of BC at presentation in Egypt and other clinicopathologic features including age, menopausal status, tumor (T) and lymph node (N) stages, and biological subtypes. Data analysis was performed using meta package (R). RESULTS: Twenty-six studies were eligible for our systematic review and meta-analysis, including 31,172 BC cases. In 12 studies, including 15,067 patients with BC, the estimated mean age was 50.46 years (95% CI, 48.7 to 52.1; I2, 99%), with a pooled proportion of premenopausal/perimenopausal women of 57% (95% CI, 50 to 63; I2, 98%). Among 9,738 patients with BC, pooled proportions of stage I, II, III, and IV were 6% (95% CI, 4 to 8; I2, 90%), 37% (95% CI, 31 to 43; I2, 93%), 45% (95% CI, 42 to 49; I2, 78%), and 11% (95% CI, 9 to 15; I2, 87%), respectively. The pooled proportions of patients with T3 and T4 tumors were 21% (95% CI, 14 to 31; I2, 99%) and 8% (95% CI, 5 to 12; I2, 96%), respectively, while those with positive lymph nodes were 70% (95% CI, 59 to 79; I2, 99%). CONCLUSION: Dominance of advanced stage and young age at diagnosis represented the two main features of BC among Egyptian women. Our data may serve to guide the policymakers in Egypt as well as other countries with lower resources to prioritize the diagnostic and therapeutic needs in this context.
