Wang Yanyan, Jiang Da, Zhao Qiang, Huang Hui, Zhang Xue, Cui Yanzhi, Liu Jiayin, Wu Jing, Lin Keke, Chen Weixi, Xiang Jiale, Jin Hui, Peng Zhiyu, Banerjee Santasree
BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong 518083, P.R. China.
Department of Internal Medicine, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China.
Oncol Lett. 2018 Sep;16(3):3913-3916. doi: 10.3892/ol.2018.9139. Epub 2018 Jul 12.
Hereditary breast cancer is an autosomal dominant syndrome caused by germ-line mutations in the human breast cancer genes, and . Mutations in either or are the major causes of familial and early-onset breast cancer. The present study investigated a 33-year-old Chinese female patient with breast cancer using targeted next generation sequencing. A novel heterozygous deletion-insertion was also identified in the gene, c.311_312delinsAGGTTTGCA, which causes the formation of a truncated BRCA1 protein of 109 amino acids instead of a wild-type BRCA1 protein of 1,863 amino acids. These results could potentially expand the mutational spectra of BRCA1-associated breast cancer. In addition, these findings may be valuable for the mutation-based screening and genetic diagnosis of breast cancer.
遗传性乳腺癌是一种常染色体显性综合征，由人类乳腺癌基因和中的种系突变引起。或中的突变是家族性和早发性乳腺癌的主要原因。本研究使用靶向二代测序技术对一名33岁的中国乳腺癌女性患者进行了调查。在基因中还鉴定出一种新的杂合缺失插入突变，即c.311_312delinsAGGTTTGCA，该突变导致形成一种109个氨基酸的截短型BRCA1蛋白，而非野生型的1863个氨基酸的BRCA1蛋白。这些结果可能会扩大与BRCA1相关乳腺癌的突变谱。此外，这些发现对于基于突变的乳腺癌筛查和基因诊断可能具有重要价值。
