BRCA1/2 sequencing in Moroccan Breast cancer

Breast cancer is one of the most common malignancies and the leading cause of death among women worldwide. About 20% of breast cancers are hereditary. With the emergence of genetic testing, BRCA1/2 gene profiling was strongly recommended for women with a family history or early age onset of BC. The assessment of BRCA1/2 mutation carriers in familial breast cancer has been proved to be valuable not only in the perspective of prevention and early detection of related cancers but also it has implications in implementation of personalized medicine and chemoprevention of recurrence. This study is an attempt to fill some gaps and gain more information regarding the molecular germline profile of BRCA1/2 in the Moroccan population. The knowledge about the contribution of BRCA1 and BRCA2 mutations in Moroccan breast cancer will lead to better understanding of genetic risk factors of this disease in Morocco乳腺癌是全球范围内最常见的恶性肿瘤之一，亦是导致女性死亡的首要病因。约20%的乳腺癌具有遗传性。随着基因检测技术的发展，临床强烈推荐存在乳腺癌家族史或早发乳腺癌的女性进行BRCA1/2基因（BRCA1/2）分型检测。现有研究证实，对家族性乳腺癌患者中的BRCA1/2突变携带者进行评估，不仅可为相关癌症的预防与早期筛查提供重要参考，同时对个性化医疗的实施以及复发的化学预防亦具有重要指导价值。本研究旨在填补当前相关研究空白，获取摩洛哥人群中BRCA1/2基因生殖系（germline）分子特征的更多数据。明晰BRCA1与BRCA2突变在摩洛哥乳腺癌中的致病贡献，将助力更全面地解析该国乳腺癌的遗传风险因子。