COSMIC: somatic cancer genetics at high-resolution
Open accessAbstract
COSMIC, the Catalogue of Somatic Mutations in Cancer (http://cancer.sanger.ac.uk) is a high-resolution resource for exploring targets and trends in the genetics of human cancer. Currently the broadest database of mutations in cancer, the information in COSMIC is curated by expert scientists, primarily by scrutinizing large numbers of scientific publications. Over 4 million coding mutations are described in v78 (September 2016), combining genome-wide sequencing results from 28 366 tumours with complete manual curation of 23 489 individual publications focused on 186 key genes and 286 key fusion pairs across all cancers. Molecular profiling of large tumour numbers has also allowed the annotation of more than 13 million non-coding mutations, 18 029 gene fusions, 187 429 genome rearrangements, 1 271 436 abnormal copy number segments, 9 175 462 abnormal expression variants and 7 879 142 differentially methylated CpG dinucleotides. COSMIC now details the genetics of drug resistance, novel somatic gene mutations which allow a tumour to evade therapeutic cancer drugs. Focusing initially on highly characterized drugs and genes, COSMIC v78 contains wide resistance mutation profiles across 20 drugs, detailing the recurrence of 301 unique resistance alleles across 1934 drug-resistant tumours. All information from the COSMIC database is available freely on the COSMIC website.
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KRASG12C mutation is present in approximately 15% of lung adenocarcinoma and 0%-8% of other cancers.
“which is present in ~15% of lung adenocarcinoma and 0%–8% of other cancers (Table 1).8,9”
From Overcoming Resistance to Drugs Targeting KRAS Mutation (2020) · cites this paper as [8]
Glycine codon 12 (G12) and G13 mutations represent 81.5% and 14% of all KRAS mutations, respectively, while mutations in other positions of KRAS are rare.
“Glycine codon 12 (G12) and G13 mutations represent 81.5% and 14% of all KRAS mutations, respectively, while the mutations in other positions of KRAS gene are rare.8,36”
From Overcoming Resistance to Drugs Targeting KRAS Mutation (2020) · cites this paper as [8]
KRAS mutation is the most frequently observed RAS gene mutation, accounting for 83% of all RAS mutations in human cancers.
“Among different RAS gene mutations, KRAS mutation is the most frequently observed, accounting for 83% of all RAS mutations in human cancers.8,36”
From Overcoming Resistance to Drugs Targeting KRAS Mutation (2020) · cites this paper as [8]
The most frequently detected mutations in codons 12 and 13 are G12V (20-25%), G12S (5-7%), G12R (3-5%), G12A (3-5%), and G13D (15-20%).
“The most frequently detected mutations in codons 12 and 13—namely G12V (incidence: 20–25%), G12S (5–7%), G12R (3–5%), G12A (3–5%), and G13D (15–20%)—are also clinically relevant, with their prevalence varying by tumor type [16,17,18].”
From The Role of KRAS Mutations in Colorectal Cancer: Biological Insights, Clinical Implications, and Future Therapeutic Perspectives (2025) · cites this paper as [17]
G12S and G12A occur in both colorectal and lung cancers at lower but still significant frequencies.
“G12S and G12A occur in both colorectal and lung cancers at lower but still significant frequencies [16,17].”
From The Role of KRAS Mutations in Colorectal Cancer: Biological Insights, Clinical Implications, and Future Therapeutic Perspectives (2025) · cites this paper as [17]
98% of RAS mutations that cause cancer are concentrated in three residues: G12, G13, and Q61.
“Genetic analysis has shown that 98% of RAS mutations that cause cancer are concentrated in three residues: G12, G13, and Q61.”
From The Role of KRAS Mutations in Colorectal Cancer: Biological Insights, Clinical Implications, and Future Therapeutic Perspectives (2025) · cites this paper as [17]
A total of 32,654 tumor samples identified with a KRAS G12X missense mutation were found from the COSMIC database.
“A total of 32,654 tumor samples identified with a KRAS G12X missense mutation were found from the database.”
The KRAS mutation is most often found at G12, in about 86% of cases.
“The mutation is most often, in about 86% of the cases [2], found at G12.”
The relative fractions of KRAS G12X mutations vary significantly in different tissues.
“When the relative fractions of these mutations are considered in different tissues, they are readily observed to vary significantly (Fig 1B–1I) [2].”
The KRAS G12X mutation data was collected from COSMIC database v.79.
“The KRAS G12X mutation data was collected from COSMIC database v.79 (http://cancer.sanger.ac.uk/cosmic/) [2].”
Missense mutations in SA2, SCC1 and CTCF are found in various cancer types.
“A series of missense mutations are found in SA2, SCC1 and CTCF in various cancer types24.”
From The structural basis for cohesin–CTCF-anchored loops (2020) · cites this paper as [24]
cBioPortal and COSMIC are primarily focused on patient tumour genomic data.
“Second, cBioPortal and COSMIC are primarily focused on patient tumour genomic data.”
From Cell Model Passports-a hub for clinical, genetic and functional datasets of preclinical cancer models (2019) · cites this paper as [20]
Neither cBioPortal, PharmacoDB nor COSMIC curate samples to map unique identifiers or link samples and models from the same patient, which can be important for identifying mis-identified or cross-contaminated samples.
“Third, neither cBioPortal, PharmacoDB nor COSMIC curate samples to map unique identifiers or link samples and models from the same patient, which can be important for identifying mis-identified or cross-contaminated samples.”
From Cell Model Passports-a hub for clinical, genetic and functional datasets of preclinical cancer models (2019) · cites this paper as [20]
The Passport model name is accompanied by synonyms and unique identifiers utilized by established resources such as RRID, COSMIC and CCLE to aid data integration and alignment.
“The Passport model name is accompanied by synonyms and most importantly unique identifiers utilized by established resources such as Research Resource Identifiers (RRID) (19), the Catalogue of Somatic Mutations in Cancer (COSMIC) (20) and CCLE (6) to aid data integration and alignment.”
From Cell Model Passports-a hub for clinical, genetic and functional datasets of preclinical cancer models (2019) · cites this paper as [20]
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“KRAS is the most frequently mutated oncogene (Cerami et al., 2012; Forbes et al., 2017).”
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- Authors
- Forbes, S. A., Beare, D., Boutselakis, H., Bamford, S., Bindal, N., Tate, J., Cole, C. G., Ward, S., Dawson, E., Ponting, L., Stefancsik, R., Harsha, B., Kok, C. Y., Jia, M., Jubb, H., Sondka, Z., Thompson, S., De, T., & Campbell, P. J.
- Affiliations
- Wellcome Sanger Institute (GB)
- Corresponding author
- Forbes, Simon A.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2016-11-28
- Volume
- 45
- Issue
- D1
- Pages
- D777-D783
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- PMC
- PMC5210583
- OpenAlex
- W2558715006
- Cited by
- 1,922
- References
- 16
- Citations by year
- 2026: 52 · 2025: 85 · 2024: 100 · 2023: 137 · 2022: 159 · 2021: 201 · 2020: 274 · 2019: 391 · 2018: 383 · 2017: 133 · 2014: 1 · 2013: 1
- FWCI
- 126.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Nucleic Acids Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- AstraZeneca
- Wellcome Trust (077012/Z/05/Z)
- 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 › Chromatin Remodeling and Cancer
- Keywords
- COSMIC, somatic mutations, cancer genomics, mutation database, gene fusion, copy number alterations, DNA methylation, drug resistance mutations, tumor molecular profiling, non-coding mutations, genome rearrangement
- MeSH terms
- Humans, Mutation, Neoplasms, Genome, Human, Drug Resistance, Neoplasm, Computational Biology, Genomics, Databases, Genetic, Genome-Wide Association Study, Web Browser
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