COSMIC: the Catalogue Of Somatic Mutations In Cancer

By John G. Tate, S. Bamford, Harry C Jubb, Zbyslaw Sondka, D. Beare, Nidhi Bindal, Harry Boutselakis, C. Cole, C. Creatore, E. Dawson and 16 more. Nucleic Acids Res., 2018

1,822 citations recorded by the source corpus.

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.

Subfields: Cancer Research, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/7ee29e41977b31fd7450391686aaa13369de9d83

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

In Molecular Biology

Citations in the corpus

Integration of the Drug–Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts (2020, background): “COSMIC provides an additional source of curated information on cancer mutations and drug resistance.”
Open Targets Platform: supporting systematic drug–target identification and prioritisation (2020, positive): “Many remain stable and provide constant updates for every one of our releases––such as ChEMBL (13), COSMIC (18), Reactome (19), ExpressionAtlas (20), Cancer Gene Census (21) or ePMC (22).”
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2 (2022, positive): “Somatic MVs were obtained from 215 the Catalogue of Somatic Mutations in Cancer (COSMIC; version 94) [12].”
The next-generation Open Targets Platform: reimagined, redesigned, rebuilt (2022, background): “Some of the data streams stem directly from public resources in our partner institutions (8–14).”
COSMIC: a curated database of somatic variants and clinical data for cancer (2023, neutral): “This data is then translated into a standardised format, integrated, and made available to the research community through well-structured datasets and user-friendly data exploration web-sites and tools ( 4 ,5 ).”
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor (2020, neutral): “, SBS-96, which encompasses single base substitutions with their immediate 50 and 30 sequence context;(15) (2) lack automatic selection for the number of signatures; (3) do not identify a robust solution; (4) require pre-selection of a large number of hyperparameters; and (5) do not decompose de nov”