肿瘤基因组学与全球肿瘤基因组计划  

The cancer genomics and global cancer genome collaboration

作　　者：胡学达 杨焕明[2,3] 赫捷[1] 吕有勇[4] 

机构地区：[1]中国医学科学院肿瘤医院/肿瘤研究所,北京100021 [2]深圳华大基因研究院,深圳518083 [3]浙江大学沃森基因组科学研究院,杭州310008 [4]北京大学肿瘤医院暨北京市肿瘤防治研究所分子肿瘤学研究室,恶性肿瘤发病机制及转化研究教育部重点实验室

出　　处：《科学通报》2015年第9期792-804,共13页Chinese Science Bulletin

摘　　要：DNA序列的变异是所有肿瘤细胞发生的重要的分子层面的原因,当前学界已经有能力对一定规模的癌症队列样本开展全基因组变异图谱的分析.国际肿瘤基因组协作联盟(ICGC)于2007年成立并启动了全球范围的肿瘤基因组研究工作.ICGC提出对50种癌症、总计25000例患者样本绘制体细胞基因突变谱.多个国家的参与课题组已经阶段性地总结了特定癌症的数据并报道了研究成果,当前跨癌种的泛癌症基因组研究已经成为ICGC的工作重点.我国以中国肿瘤基因组协作组(CCGC)的形式参与了ICGC的合作研究,选择包括食管癌、胃癌、肝癌、大肠癌、鼻咽癌等13种癌症并取得相关进展.CCGC和ICGC研究工作将积极推动癌症基因组学向肿瘤生物学的转化研究,为肿瘤的个体化精准诊疗提供理论和技术支撑.Cancers arise as a result of mutations occurring in the DNA sequence of cells, and we are now entering an era in which it is feasible to obtain the complete DNA sequence of large cohorts of cancer patients. The International Cancer Genome Consortium（ICGC） was launched in 2007, and is devoted to the coordination of large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes, and systematic studies of more than 25000 cancer genomes. Several participant groups have summarized and published their data for various cancers. As active members of the ICGC, Chinese cancer genome investigators have contributed research into 13 tumor types, including cancers of the esophagus, liver, bladder, and kidney. Pan-cancer analysis is currently the most important role of the ICGC because the genetic alterations in thousands of tumors have now been catalogued. The ICGC research network will reveal the repertoire of oncogenic mutations, uncover traces of mutagenic influences, define molecular subtypes for clinical implications, and enable the development of individual therapeutics for human cancers.

关 键 词：肿瘤基因组 国际肿瘤基因组协作联盟 中国肿瘤基因组协作组 测序 突变 

分 类 号：R73-3[医药卫生—肿瘤]