COSMIC: the Catalogue Of Somatic Mutations In Cancer
COSMIC: каталог соматических мутаций при раке
2018-10-11
SCID: 54.1/ttxyb7tm
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COSMIC databaseCOSMIC-3DCancer Gene Censuscancer genomicssomatic mutations
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Abstract (AI)
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.
Key Findings
1
COSMIC is a comprehensive resource for investigating somatic mutations and their effects in human cancer.
2
COSMIC v86 contained almost 6 million coding mutations from 1.4 million tumour samples, curated from over 26,000 publications.
3
COSMIC-3D enables analysis of mutations in three-dimensional protein structures, including structural and functional effects and potential implications for druggability.
4
Primarily manual curation provides quality, accuracy, and descriptive information, while new initiatives prioritize important genes and diseases and accelerate literature updates.
5
The Cancer Gene Census catalogued 719 cancer-driving genes and summarized their disease-driving functions using the 10 cancer Hallmarks.
6
The database covers diverse cancer-promoting alterations, including non-coding mutations, gene fusions, copy-number variants, and drug-resistance mutations.
Research Object
COSMIC, the Catalogue Of Somatic Mutations In Cancer, including its curated somatic mutation and cancer gene catalogues
Research Subject
The comprehensive curation, characterization, and structural and functional exploration of somatic mutations and cancer-driving genes, including their effects on cancer and implications for druggability
Publication Details
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2018-10-11
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