Cited by 1,597Cancer Genomics and DiagnosticsGenomics and Rare DiseasesChromatin Remodeling and Cancer

The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers

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Sondka, Zbyslaw, Bamford, Sally, Cole, Charlotte G., Ward, Sari A., Dunham, Ian, Forbes, Simon A.·2018·Nature Reviews Cancer

Abstract

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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  • Four genes (TP53, RNF43, MAP2K4, RBM10) interact with or signal through KRAS or are known oncogenes or tumor suppressors.

    “four interact with or signal through KRAS16,38 or are known oncogenes or tumor suppressors39: TP53, RNF43, MAP2K4, and RBM10”
  • 391 out of 622 curated COSMIC cancer-related and AML-related genes were located inside altered TADs in at least one sample, and more than 100 were recurrent across multiple samples.

    “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.”

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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)
Venue
Nature Reviews Cancer
Published
2018-10-06
Volume
18
Issue
11
Pages
696-705
ISSN
  • 1474-175X (ISSN-L)
  • 1474-1768
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
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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