1. COSMIC: the Catalogue Of Somatic Mutations In Cancer
- Author
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Harry Boutselakis, David Beare, Peter J. Campbell, Sari Ward, Celestino Creatore, Raymund Stefancsik, Simon A. Forbes, John Tate, Chai Yin Kok, Kate Noble, Sally Bamford, Helen E. Speedy, Claire Rye, Charlotte G. Cole, Laura Ponting, Zbyslaw Sondka, Bhavana Harsha, Charlie Hathaway, Sam Thompson, Steve C Jupe, Elisabeth Dawson, Shicai Wang, Harry Jubb, Peter Fish, Nidhi Bindal, and Christopher C Ramshaw
- Subjects
Protein Conformation ,Somatic cell ,Druggability ,Computational biology ,Disease ,Biology ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Neoplasms ,Genetics ,medicine ,Humans ,Database Issue ,Gene ,030304 developmental biology ,0303 health sciences ,Mutation ,COSMIC cancer database ,Cancer ,medicine.disease ,3. Good health ,Genes ,Cancer gene ,Databases, Nucleic Acid ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2018