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COSMIC: the Catalogue Of Somatic Mutations In Cancer

Authors :
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
Christopher C Ramshaw
Source :
Nucleic Acids Research
Publication Year :
2018
Publisher :
Oxford University Press (OUP), 2018.

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.

Details

ISSN :
13624962 and 03051048
Volume :
47
Database :
OpenAIRE
Journal :
Nucleic Acids Research
Accession number :
edsair.doi.dedup.....86811f98041ad2062052fe15389e2704