Yin Yifa, Wu Shouxin, Zhao Xincheng, Zou Liyong, Luo Aihua, Deng Fei, Min Mengyun, Jiang Lisha, Liu Huimin, Wu Xiangbai
Department of Radiotherapy and Chemotherapy, The Second People's Hospital, Three Gorges University, Yichang, Hubei 443002, P.R. China.
Biotecan Medical Diagnostics Co., Ltd., Zhangjiang Center for Translational Medicine, Shanghai 201203, P.R. China.
Oncol Lett. 2019 Sep;18(3):2619-2627. doi: 10.3892/ol.2019.10573. Epub 2019 Jul 5.
Cancer is one of the leading causes of mortality in China, and poses a threat to public health due to its increasing incidence and mortality rates. Concurrent cancer is defined as one or more organs in the same individual having ≥2 primary malignancies occurring simultaneously or successively; however, concurrent cases are rare and poorly studied. The present study recruited a Chinese family presenting multiple cases of concurrent cancer and performed whole exome sequencing in one unaffected and two affected individuals to identify the causative mutations. DNA was extracted from peripheral blood and tumor tissue samples. Following an exome capture and quality test, the qualified library was sequenced as 100 bp paired-end reads on an Ion Torrent platform. Clean data were obtained by filtering out the low-quality reads. Subsequently, bioinformatics analyses were performed using the clean data. After mapping and annotating in 1000 Genomes Project database, the existing SNP database and the Cancer Gene Census (CGC) database, it was revealed that the NADH:ubiquinone oxidoreductase core subunit S7 gene was a candidate gene with somatic mutations, and a subset of 16 genes were candidate genes with germline mutations. The findings of the present study may improve the understanding of the molecular pathogenesis of concurrent cancer.
癌症是中国主要的致死原因之一，因其发病率和死亡率不断上升，对公众健康构成威胁。同时性癌症被定义为同一个体的一个或多个器官同时或相继发生≥2种原发性恶性肿瘤；然而，同时性癌症病例罕见且研究较少。本研究招募了一个出现多例同时性癌症的中国家庭，并对一名未受影响个体和两名受影响个体进行了全外显子组测序，以确定致病突变。从外周血和肿瘤组织样本中提取DNA。经过外显子捕获和质量检测后，合格文库在Ion Torrent平台上进行100 bp双端测序。通过过滤低质量reads获得干净数据。随后，使用干净数据进行生物信息学分析。在千人基因组计划数据库、现有SNP数据库和癌症基因普查（CGC）数据库中进行映射和注释后，发现NADH：泛醌氧化还原酶核心亚基S7基因是一个存在体细胞突变的候选基因，16个基因的一个子集是存在种系突变的候选基因。本研究结果可能会增进对同时性癌症分子发病机制的理解。
