Abstract 3284: COSMIC: Integrating and interpreting the world's knowledge of somatic mutations in cancer

Abstract

Abstract COSMIC, the Catalogue Of Somatic Mutations In Cancer (http://cancer.sanger.ac.uk/cosmic) is a long-term sustainable effort to collect, standardise and integrate information on somatic mutations and other molecular alterations that cause human cancer. Being the world's largest and most comprehensive database of somatic mutations in cancer, it also provides web-based tools for exploration and interpretation of collected data. The content of the database is obtained primarily by careful curation of the scientific literature by a team of experienced post-doctoral curators, allowing mutations to be described across every form of human cancer at high resolution (covering 1,706 cancer phenotypes). This is then combined with data from a number of on-line sources, including the TCGA and ICGC web portals. During exhaustive manual curation, all the available information about mutations and samples (e.g. disease type, demographic data, treatments) are collected, standardised and integrated to allow for both creation of wide virtual cohorts and large-scale studies, as well as precise analysis at the level of a single sample, gene or mutation. To support investigations into how genes dysfunction to drive cancer, the 83rd release of COSMIC (Nov 2017) encompasses 5,366,273 coding mutations and 18,845 gene fusions in 1,343,214 cancer samples, hand-curated from 25,501 scientific publications, including 32,514 whole cancer genomes. Further curations support examination of gene dysregulation in cancer, including 16,961,605 non-coding variants, 1,180,789 Copy Number Variants, 9,176,464 gene expression variants, and 7,879,142 differentially methylated CpGs. Specialised COSMIC projects highlight specific knowledge of cancer in order to characterise events with a higher impact in disease aetiology. The Cancer Gene Census (http://cancer.sanger.ac.uk/census), currently defines and describes 699 genes, how their dysfunctions drive oncogenesis, and characterises their impact on hallmarks of cancer. COSMIC-3D (http://cancer.sanger.ac.uk/cosmic3d) provides an interactive view of cancer mutations in the context of 3D protein structures, and predicts potential drug-binding sites. Mutations causing drug resistance are now described as a new resource (http://cancer.sanger.ac.uk/cosmic/drug_resistance). To allow for the incorporation of new data exploration tools, the COSMIC web page layouts have been updated and their usability has been improved, giving more options to filter webpage content. COSMIC is significantly updated 4 times a year, and is available free-of-charge for academic and non-profit users via COSMIC webpage (http://cancer.sanger.ac.uk/cosmic) or to download through COSMIC downloads (http://cancer.sanger.ac.uk/cosmic/download) Citation Format: Zbyslaw Sondka, Sally Bamford, Charlotte G. Cole, Elisabeth Dawson, Laura Ponting, Raymund Stefancsik, Sari Ward, Harry C. Jubb, Sam Thompson, Dave Beare, Nidhi Bindal, Charambulos Boutselakis, Peter Fish, Bhavana Harsha, Chai Yin Kok, Chris Ramshaw, Claire Rye, John Tate, Shicai Wang, Peter J. Campbell, Simon A. Forbes. COSMIC: Integrating and interpreting the world's knowledge of somatic mutations in cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 3284.