Analysis of BRCA1 and BRCA2 Variants in Moroccan Patients with Triple-Negative Breast Cancer (TNBC)
摘要
Triple-negative breast cancer (TNBC) is characterized by aggressive behavior and diverse incidence rates across populations, with genetic factors such as BRCA1 and BRCA2 mutations playing a significant role. Despite the known association between BRCA1/2 mutations and hereditary breast cancer, there is limited information on the prevalence and impact of these variants in TNBC patients from Morocco. This study aimed to identify pathogenic BRCA1 and BRCA2 variants in TNBC patients and assess their clinical implications. 32 female patients with TNBC diagnosed in Morocco between January 1, 2016, and December 30, 2022, were enrolled. The study utilized formalin-fixed paraffin-embedded (FFPE) tissue blocks for genetic analysis. Next-generation sequencing (NGS) of BRCA1 and BRCA2 identified pathogenic variants (PVs), with a higher frequency of BRCA2 than BRCA1 mutations. Specifically, the variant c.1588A > T (p.Lys530Ter) was found in multiple BRCA2-positive patients. This study highlights the prevalence of BRCA2 PVs in TNBC patients from Morocco, suggesting that BRCA2-specific screening may be crucial for improving risk assessment and management. These findings advocate for targeted genetic testing to enhance personalized treatment strategies and preventive measures for high-risk TNBC patients in the Moroccan population.