2018 | John G. Tate¹, Sally Bamford¹, Harry C. Jubb¹,², Zbyslaw Sondka¹, David M. Beare¹, Nidhi Bindal¹, Harry Boutselakis¹, Charlotte G. Cole¹, Celestino Creatore¹, Elisabeth Dawson¹, Peter Fish¹, Bhavana Harsha¹, Charlie Hathaway¹, Steve C. Jupe¹, Chai Yin Kok¹, Kate Noble¹, Laura Ponting¹, Christopher C. Ramshaw¹, Claire E. Rye¹, Helen E. Speedy¹,³, Ray Stefancsik¹, Sam L. Thompson¹, Shicai Wang¹, Sari Ward¹, Peter J. Campbell¹ and Simon A. Forbes¹
COSMIC is the most detailed and comprehensive resource for exploring the effects of somatic mutations in human cancer. The latest release, COSMIC v86 (August 2018), includes almost 6 million coding mutations across 1.4 million tumour samples, curated from over 26,000 publications. In addition to coding mutations, COSMIC covers all genetic mechanisms by which somatic mutations promote cancer, including non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations. COSMIC is primarily hand-curated, ensuring quality, accuracy and descriptive data capture. New initiatives allow prioritization of key genes and diseases, and faster and more comprehensive reaction to new findings. COSMIC-3D allows exploration of mutations within three-dimensional protein structures, their structural and functional impacts, and implications for druggability. The Cancer Gene Census (CGC) describes a curated catalogue of genes driving every form of human cancer. Currently describing 719 genes, the CGC has recently introduced functional descriptions of how each gene drives disease, summarized into the 10 cancer Hallmarks. The CGC is an ongoing project to catalogue all genes causally implicated in cancer through somatic and germline mutations. The evaluation process for CGC candidate genes starts with a search for the presence of somatic mutation patterns typical for cancer genes. Having identified a candidate gene, a thorough literature review is performed to identify the biological functions of the gene and to establish how mutations cause dysfunction of that gene to promote oncogenic transformation. At this stage the gene can be classified as an oncogene, a tumour suppressor gene (TSG), or both. If described in the context of oncogenic fusions, such a gene is classified as a 'fusion gene'. The CGC comprises two 'tiers', into which genes are classified depending on strength of evidence supporting their cancer-promoting role. Tier 1 genes are characterized by the presence of mutational patterns that strongly support their involvement in cancer aetiology, along with evidence of how the gene's dysfunction impacts the hallmarks of cancer. Qualification for Tier 1 requires at least two publications from two independent groups, which describe somatic mutations in the gene in at least one type of cancer. Additionally, at least two independent publications must provide evidence of functional involvement of the gene in biological processes driving cancer. The details of the curation process and the criteria for gene qualification to the CGC have been described previously. Tier 2 of the CGC encompasses genes with extensive literature evidence for their participation in tumour development but which have less robust evidence supporting mutational patterns or functional consequence. The evidence is assessed independently by at least two postdoctoral scientists, and their unequivocal decision is required to qualify a gene to either Tier 1 or Tier 2 of the CGC. In the latest COSMIC release (v86, August 2018), the CGCOSMIC is the most detailed and comprehensive resource for exploring the effects of somatic mutations in human cancer. The latest release, COSMIC v86 (August 2018), includes almost 6 million coding mutations across 1.4 million tumour samples, curated from over 26,000 publications. In addition to coding mutations, COSMIC covers all genetic mechanisms by which somatic mutations promote cancer, including non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations. COSMIC is primarily hand-curated, ensuring quality, accuracy and descriptive data capture. New initiatives allow prioritization of key genes and diseases, and faster and more comprehensive reaction to new findings. COSMIC-3D allows exploration of mutations within three-dimensional protein structures, their structural and functional impacts, and implications for druggability. The Cancer Gene Census (CGC) describes a curated catalogue of genes driving every form of human cancer. Currently describing 719 genes, the CGC has recently introduced functional descriptions of how each gene drives disease, summarized into the 10 cancer Hallmarks. The CGC is an ongoing project to catalogue all genes causally implicated in cancer through somatic and germline mutations. The evaluation process for CGC candidate genes starts with a search for the presence of somatic mutation patterns typical for cancer genes. Having identified a candidate gene, a thorough literature review is performed to identify the biological functions of the gene and to establish how mutations cause dysfunction of that gene to promote oncogenic transformation. At this stage the gene can be classified as an oncogene, a tumour suppressor gene (TSG), or both. If described in the context of oncogenic fusions, such a gene is classified as a 'fusion gene'. The CGC comprises two 'tiers', into which genes are classified depending on strength of evidence supporting their cancer-promoting role. Tier 1 genes are characterized by the presence of mutational patterns that strongly support their involvement in cancer aetiology, along with evidence of how the gene's dysfunction impacts the hallmarks of cancer. Qualification for Tier 1 requires at least two publications from two independent groups, which describe somatic mutations in the gene in at least one type of cancer. Additionally, at least two independent publications must provide evidence of functional involvement of the gene in biological processes driving cancer. The details of the curation process and the criteria for gene qualification to the CGC have been described previously. Tier 2 of the CGC encompasses genes with extensive literature evidence for their participation in tumour development but which have less robust evidence supporting mutational patterns or functional consequence. The evidence is assessed independently by at least two postdoctoral scientists, and their unequivocal decision is required to qualify a gene to either Tier 1 or Tier 2 of the CGC. In the latest COSMIC release (v86, August 2018), the CG