COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

By S. Forbes, C. Cole, C. Kok, Mingming Jia, Michael R. Stratton, P. Futreal. Nucleic Acids Res., 2009

607 citations recorded by the source corpus.

The catalogue of Somatic Mutations in Cancer (COSMIC) (http://www.sanger.ac.uk/cosmic/) is the largest public resource for information on somatically acquired mutations in human cancer and is available freely without restrictions. Currently (v43, August 2009), COSMIC contains details of 1.5-million experiments performed through 13 423 genes in almost 370 000 tumours, describing over 90 000 individual mutations. Data are gathered from two sources, publications in the scientific literature, (v43 contains 7797 curated articles) and the full output of the genome-wide screens from the Cancer Genome Project (CGP) at the Sanger Institute, UK. Most of the world’s literature on point mutations in human cancer has now been curated into COSMIC and while this is continually updated, a greater emphasis on curating fusion gene mutations is driving the expansion of this information; over 2700 fusion gene mutations are now described. Whole-genome sequencing screens are now identifying large numbers of genomic rearrangements in cancer and COSMIC is now displaying details of these analyses also. Examination of COSMIC’s data is primarily web-driven, focused on providing mutation range and frequency statistics based upon a choice of gene and/or cancer phenotype. Graphical views provide easily interpretable summaries of large quantities of data, and export functions can provide precise details of user-selected data.

Subfields: Cancer Research, Genetics, Pathology and Forensic Medicine

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Citations in the corpus

OncodriveCLUST: exploiting the positional clustering of somatic mutations to identify cancer genes (2013, methodology): “3.3 Genes with mutation clustering detected by OncodriveCLUST are enriched for known cancer genes Analysis of the COSMIC dataset included 9565 genes that contained at least 10 protein-affecting mutations annotated as whole genome screen.”
Ensembl 2011 (2010, methodology): “For germline mutations, we include the location and iden-tiﬁer of mutations from the Human Gene Mutation Database (HGMD) (19) as well as sequence somatic mutations from genes in the Catalogue of Somatic Mutations in Cancer (COSMIC) (20).”
Pan-tumor genomic biomarkers for PD-1 checkpoint blockade–based immunotherapy (2018, neutral): “MuTect-calledSNVs present in the Single Nucleotide Polymorphism Database (dbSNP, v141) (46) but not in the Catalogue of Somatic Mutations in Cancer (COSMIC, v68) (47) were filtered out.”
Accumulation of driver and passenger mutations during tumor progression (2009, background): “The forest is trained on a positive class of ∼2;500 missense mutations previously identified as playing a functional role in oncogenic transformation from the COSMIC database (35) and a negative class of ∼4;000 random (passenger) missense mutations, which are synthetically generated with a computer ”
Ensembl BioMarts: a hub for data retrieval across taxonomic space (2011, methodology): “The COSMIC project focuses on somatic mutations relating to human cancers.”