文章：

宇宙癌症基因普查：描述所有人类癌症的遗传功能障碍

The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers

原文发布日期：2018-10-06

DOI: 10.1038/s41568-018-0060-1

类型: Review Article

开放获取: 否

英文摘要：

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.

摘要翻译： 

体细胞突变癌症目录（COSMIC）癌症基因普查（CGC）是一部经专家精心整理的驱动人类癌症的基因汇编，已成为基础研究、医学报告及药物开发领域癌症遗传学的标准参考。经过大规模扩展与全面重新评估，2018版CGC详细阐述了719个癌症驱动基因的作用机制。本次更新涵盖了各基因在关键癌症标志性特征中促进疾病发生的功能与机制描述，以及突变对基因和蛋白质功能的影响。这些功能特征揭示了癌症生物学异常复杂的本质，表明许多基因具有多重癌症相关功能，且往往高度依赖组织类型或肿瘤分期。2018版CGC还增设第二层级，收录了来自最新癌症研究中不断扩充的基因列表（当前含145个），这些基因虽在癌症中作用的证据支持性较强，但详细程度较低。

原文链接：

The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers