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The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers
Open accessAbstract
The Catalogue of Somatic Mutations in Cancer (COSMIC) Cancer Gene Census (CGC) is an expert-curated description of the genes driving human cancer that is used as a standard in cancer genetics across basic research, medical reporting and pharmaceutical development. After a major expansion and complete re-evaluation, the 2018 CGC describes in detail the effect of 719 cancer-driving genes. The recent expansion includes functional and mechanistic descriptions of how each gene contributes to disease generation in terms of the key cancer hallmarks and the impact of mutations on gene and protein function. These functional characteristics depict the extraordinary complexity of cancer biology and suggest multiple cancer-related functions for many genes, which are often highly tissue-dependent or tumour stage-dependent. The 2018 CGC encompasses a second tier, describing an expanding list of genes (currently 145) from more recent cancer studies that show supportive but less detailed indications of a role in cancer.
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“We identified 391 out of the 622 curated COSMIC cancer-related and AML-related genes located inside the altered TADs in at least one sample, and more than 100 are recurrent across multiple samples (Extended Data Fig. 3b)4,24,25.”
From Subtype-specific 3D genome alteration in acute myeloid leukaemia (2022) · cites this paper as [24]
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“four interact with or signal through KRAS16,38 or are known oncogenes or tumor suppressors39: TP53, RNF43, MAP2K4, and RBM10”
From The origins and genetic interactions of KRAS mutations are allele- and tissue-specific (2021) · cites this paper as [39]
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Metadata
- Authors
- Sondka, Z., Bamford, S., Cole, C. G., Ward, S. A., Dunham, I., & Forbes, S. A.
- Affiliations
- Wellcome Sanger Institute (GB)
- European Bioinformatics Institute (GB)
- ORCID
- Dunham, Ian
- Venue
- Nature Reviews Cancer
- Published
- 2018-10-06
- Volume
- 18
- Issue
- 11
- Pages
- 696-705
- ISSN
- 1474-175X (ISSN-L)
- 1474-1768
- PMC
- PMC6450507
- OpenAlex
- W2894573839
- Cited by
- 1,597
- References
- 102
- Citations by year
- 2026: 125 · 2025: 227 · 2024: 242 · 2023: 239 · 2022: 260 · 2021: 250 · 2020: 167 · 2019: 75 · 2018: 8
- FWCI
- 13.23
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature reviews. Cancer (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust
- 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
- somatic mutations, cancer genetics, gene function, cancer hallmarks, expert curation, cancer genomics
- MeSH terms
- Humans, Mutation, Neoplasms, Censuses
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