Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Astex Pharmaceuticals, 436 Cambridge Science Park, Cambridge CB4 0QA, UK.
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. doi: 10.1093/nar/gky1015.
COSMIC, the Catalogue Of Somatic Mutations In Cancer (https://cancer.sanger.ac.uk) is the most detailed and comprehensive resource for exploring the effect of somatic mutations in human cancer. The latest release, COSMIC v86 (August 2018), includes almost 6 million coding mutations across 1.4 million tumour samples, curated from over 26 000 publications. In addition to coding mutations, COSMIC covers all the genetic mechanisms by which somatic mutations promote cancer, including non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations. COSMIC is primarily hand-curated, ensuring quality, accuracy and descriptive data capture. Building on our manual curation processes, we are introducing new initiatives that allow us to prioritize key genes and diseases, and to react more quickly and comprehensively to new findings in the literature. Alongside improvements to the public website and data-download systems, new functionality in COSMIC-3D allows exploration of mutations within three-dimensional protein structures, their protein structural and functional impacts, and implications for druggability. In parallel with COSMIC's deep and broad variant coverage, the Cancer Gene Census (CGC) describes a curated catalogue of genes driving every form of human cancer. Currently describing 719 genes, the CGC has recently introduced functional descriptions of how each gene drives disease, summarized into the 10 cancer Hallmarks.
COSMIC，癌症体细胞突变目录（https://cancer.sanger.ac.uk）是探索人类癌症体细胞突变影响的最详细和全面的资源。最新版本 COSMIC v86（2018 年 8 月）包含了近 600 万个编码突变，涉及超过 140 万个肿瘤样本，这些数据是从超过 26000 篇文献中精心整理出来的。除了编码突变，COSMIC 还涵盖了体细胞突变促进癌症的所有遗传机制，包括非编码突变、基因融合、拷贝数变异和耐药性突变。COSMIC 主要是人工精心整理的，以确保质量、准确性和描述性数据捕获。在我们的手动整理过程的基础上，我们正在引入新的举措，使我们能够优先考虑关键基因和疾病，并更快速、更全面地对文献中的新发现做出反应。除了对公共网站和数据下载系统进行改进外，COSMIC-3D 中的新功能还允许在三维蛋白质结构内探索突变，以及它们对蛋白质结构和功能的影响，以及对药物开发的影响。与 COSMIC 广泛而深入的变异覆盖范围并行的是癌症基因目录（CGC），它描述了一个经过精心整理的基因目录，这些基因驱动着每一种人类癌症。目前描述了 719 个基因，CGC 最近还介绍了每个基因如何驱动疾病的功能描述，总结为 10 个癌症特征。
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