The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

By S. Bamford, E. Dawson, S. Forbes, Jody Clements, Roger Pettett, A. Doğan, A. Flanagan, J. Teague, P. Futreal, Michael R. Stratton and 1 more. British Journal of Cancer, 2004

1,236 citations recorded by the source corpus.

The discovery of mutations in cancer genes has advanced our understanding of cancer. These results are dispersed across the scientific literature and with the availability of the human genome sequence will continue to accrue. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website have been developed to store somatic mutation data in a single location and display the data and other information related to human cancer. To populate this resource, data has currently been extracted from reports in the scientific literature for somatic mutations in four genes, BRAF, HRAS, KRAS2 and NRAS. At present, the database holds information on 66 634 samples and reports a total of 10 647 mutations. Through the web pages, these data can be queried, displayed as figures or tables and exported in a number of formats. COSMIC is an ongoing project that will continue to curate somatic mutation data and release it through the website.

Subfields: Cancer Research, Genetics, Pathology and Forensic Medicine

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Citations in the corpus

Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study (2011, methodology): “Variants were annotated using dbSNP132, HapMap 3, the Catalogue of Somatic Mutations in Cancer (COSMIC) database(20,21), and the Human Gene Mutation Database (HMGD)(6).”
COSMIC: exploring the world's knowledge of somatic mutations in human cancer (2014, background): “Since COSMIC launched in 2004 (2) detailing four cancer genes, the last 10 years have seen an enormous growth”
High-throughput oncogene mutation profiling in human cancer (2007, methodology): “We queried the following databases for known somatic oncogene mutations: Cosmi”
Integrative genomic approaches identify IKBKE as a breast cancer oncogene. (2007, result): “IKBKE gene in 28 breast tumors and 19 breast cancer cell lines and failed to find evidence of somatic mutations, corroborating other sequencing efforts (Bamford et al., 2004).”
EnrichNet: network-based gene set enrichment analysis (2012, methodology): “The cancer mutated genes have been collected from COSMIC [16], OMIM [17] and CGC [18]) and genes known to be associated with Parkinson’s disease were extracted from the Phenopedia database [19].”
The world of protein acetylation. (2016, background): “S1396P alterations in p300 all reduced the H3K19 acetylation in mice [399].”
Regulation of cell signalling by uPAR (2010, background): “The Ras–ERK MAPK pathway is frequently activated in tumours by mutation or aberrant upstream signallin”
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden (2017, background): “Alterations listed as known somatic alterations in COSMIC and truncations in tumor suppressor genes were not counted, since our assay genes are biased toward genes with functional mutations in cancer [63].”