Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Department of Medical Information, School of Life Sciences, Central South University, Changsha, Hunan, China.
Biosci Rep. 2019 Apr 30;39(4). doi: 10.1042/BSR20182471.
Breast cancer (BC) is the most common female cancer found worldwide. It is responsible for 25% of all cancer patients in females. Hereditary BC accounts for about 5-10% of all BC cases. The breast cancer 1 gene () and the breast cancer 2 gene () are the two most-studied BC susceptibility genes. Genetic testing for disease-causing mutations in , and other BC susceptibility genes is strongly recommended for members of families having a BC family history. The present study found a heterozygous c.5722_5723del mutation in the exon 11 of a large Han-Chinese BC family using whole exome sequencing and Sanger sequencing. It may cause DNA double-strand breaks repair dysfunction by disturbing homologous recombination, further resulting in BC. The study findings may help supplement and further improve genetic testing strategies and BC risk estimation methodologies in China.
乳腺癌（BC）是全球最常见的女性癌症。它占女性所有癌症患者的 25%。遗传性 BC 约占所有 BC 病例的 5-10%。乳腺癌 1 基因（）和乳腺癌 2 基因（）是研究最多的两种 BC 易感性基因。强烈建议有 BC 家族史的家族成员进行基因检测，以发现、和其他 BC 易感性基因中的致病突变。本研究通过全外显子组测序和 Sanger 测序发现了一个大型汉族 BC 家系中 11 号外显子的杂合 c.5722_5723del 突变。它可能通过干扰同源重组导致 DNA 双链断裂修复功能障碍，进而导致 BC。该研究结果可能有助于补充和进一步完善中国的基因检测策略和 BC 风险评估方法。
