COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
Open accessAbstract
COSMIC (http://www.sanger.ac.uk/cosmic) curates comprehensive information on somatic mutations in human cancer. Release v48 (July 2010) describes over 136,000 coding mutations in almost 542,000 tumour samples; of the 18,490 genes documented, 4803 (26%) have one or more mutations. Full scientific literature curations are available on 83 major cancer genes and 49 fusion gene pairs (19 new cancer genes and 30 new fusion pairs this year) and this number is continually increasing. Key amongst these is TP53, now available through a collaboration with the IARC p53 database. In addition to data from the Cancer Genome Project (CGP) at the Sanger Institute, UK, and The Cancer Genome Atlas project (TCGA), large systematic screens are also now curated. Major website upgrades now make these data much more mineable, with many new selection filters and graphics. A Biomart is now available allowing more automated data mining and integration with other biological databases. Annotation of genomic features has become a significant focus; COSMIC has begun curating full-genome resequencing experiments, developing new web pages, export formats and graphics styles. With all genomic information recently updated to GRCh37, COSMIC integrates many diverse types of mutation information and is making much closer links with Ensembl and other data resources.
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Common mutation sites in KRAS include codons 12, 13 and 61, with codon 12 being the most common mutation site.
“Common mutation sites in KRAS include codons 12, 13 and 61, with codon 12 being the most common mutation site.46–48”
From Recent advances in targeting the “undruggable” proteins: from drug discovery to clinical trials (2023) · cites this paper as [46]
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- Authors
- Forbes, S. A., Bindal, N., Bamford, S., Cole, C., Kok, C. Y., Beare, D., Jia, M., Shepherd, R., Leung, K., Menzies, A., Teague, J. W., Campbell, P. J., Stratton, M. R., & Futreal, P. A.
- Affiliations
- Wellcome Sanger Institute (GB)
- Corresponding author
- Futreal, P. A.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-10-15
- Volume
- 39
- Issue
- Database
- Pages
- D945-D950
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC3013785
- OpenAlex
- W1989773675
- Cited by
- 2,278
- References
- 13
- Citations by year
- 2026: 15 · 2025: 34 · 2024: 53 · 2023: 70 · 2022: 83 · 2021: 107 · 2020: 132 · 2019: 112 · 2018: 129 · 2017: 164 · 2016: 179 · 2015: 309 · 2014: 399 · 2013: 280 · 2012: 150
- FWCI
- 49.11
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Nucleic Acids Research (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (077012/Z/05/Z, 088340, 093867)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- COSMIC, somatic mutations, cancer genomics, cancer genes, fusion genes, TP53, TCGA, GRCh37, BioMart, genome annotation
- MeSH terms
- Humans, Mutation, Neoplasms, User-Computer Interface, Genome, Human, Databases, Nucleic Acid, Cell Line, Tumor, Data Mining
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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