Unique features of germline variation in five Egyptian familial breast cancer families revealed by exome sequencing

Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations. The Egyptian population has high genetic variations in reflecting its divergent ethnic origins, and incident rate of familial breast cancer in Egypt is also higher than the rate in many other populations. Using whole exome sequencing, we investigated genetic predisposition in five Egyptian familial breast cancer families. No pathogenic variants in BRCA1, BRCA2 and other classical breast cancer-predisposition genes were present in these five families. Co...遗传易感（genetic predisposition）可增加家族性乳腺癌的发病风险。近期研究显示，家族性乳腺癌的遗传易感特性存在族群特异性。然而，目前针对该疾病遗传易感的认知主要源自西方人群。若仅以这类现有信息作为唯一参考来评估非西方人群的遗传易感状态，不仅依据不够充分，还可能导致误诊。因此，亟需开展针对非西方人群的遗传易感数据收集工作。埃及人群因起源族群各异，具有较高的遗传异质性，且该国家族性乳腺癌的发病率亦高于多数其他人群。本研究采用全外显子测序（whole exome sequencing）技术，对5个埃及家族性乳腺癌家系的遗传易感情况展开了分析。在这5个家系中，未检测到BRCA1、BRCA2及其他经典乳腺癌易感基因的致病性变异。Co...