Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Open Targets, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Nat Rev Cancer. 2018 Nov;18(11):696-705. doi: 10.1038/s41568-018-0060-1.
The Catalogue of Somatic Mutations in Cancer (COSMIC) Cancer Gene Census (CGC) is an expert-curated description of the genes driving human cancer that is used as a standard in cancer genetics across basic research, medical reporting and pharmaceutical development. After a major expansion and complete re-evaluation, the 2018 CGC describes in detail the effect of 719 cancer-driving genes. The recent expansion includes functional and mechanistic descriptions of how each gene contributes to disease generation in terms of the key cancer hallmarks and the impact of mutations on gene and protein function. These functional characteristics depict the extraordinary complexity of cancer biology and suggest multiple cancer-related functions for many genes, which are often highly tissue-dependent or tumour stage-dependent. The 2018 CGC encompasses a second tier, describing an expanding list of genes (currently 145) from more recent cancer studies that show supportive but less detailed indications of a role in cancer.
癌症体细胞突变目录(COSMIC)癌症基因普查(CGC)是一个经过专业编辑的人类癌症驱动基因描述,被广泛应用于癌症遗传学的基础研究、医学报告和药物研发。经过一次重大扩展和全面重新评估,2018 年 CGC 详细描述了 719 个癌症驱动基因的作用。最近的扩展包括每个基因如何通过关键癌症特征以及基因突变对基因和蛋白质功能的影响,在疾病发生方面的功能和机制描述。这些功能特征描绘了癌症生物学的非凡复杂性,并暗示许多基因具有多种与癌症相关的功能,这些功能通常高度依赖于组织或肿瘤分期。2018 年 CGC 还包括第二层描述,即越来越多的癌症研究中不断扩展的基因列表(目前有 145 个),这些研究提供了支持性但更详细的证据,表明这些基因在癌症中具有作用。