Abstract 46: COSMIC: Enhancing the analysis of whole somatic mutant tumor genomes

COSMIC, the Catalogue Of Somatic Mutations In Cancer (http://www.sanger.ac.uk/cosmic), is a comprehensive web resource for the investigation of somatic mutations in human cancer with data curated and centrally combined from a variety of sources. Currently, point mutation data have been manually curated from the scientific literature on 89 genes, together with full mutation details on a further 57 fusion gene pairs (Release v50, Nov 2010), defined as known cancer genes in the Cancer Gene Census (http://www.sanger.ac.uk/genetics/CGP/Census). Further, in collaboration with the IARC TP53 database, COSMIC now contains the somatic mutation data for the key p53 tumor suppressor gene. Details of many large candidate gene screens, together spanning almost 20,000 genes have also been curated from three sources, the scientific literature, the Cancer Genome Project labs at the Sanger Institute, UK (CGP), and The Cancer Genome Atlas (TCGA) web portal. Finally, COSMIC now presents the results of 48 whole-genome screens, detailing 2689 genomic rearrangements, 1661 coding mutations and 55,440 non-coding mutations. The COSMIC website is designed to allow easy and intuitive browsing of this data, in isolation or various combinations. As the amount and variability of data has increased, the methods of acquiring and interacting with the data have been enhanced. The COSMIC website now provides mining capabilities, with numerous specialization filters, graphically presenting selected data. A more extensive mining tool is the COSMIC Biomart, allowing selection of data using any definitions found in the COSMIC system. With the increasing significance of genomic data in cancer, COSMIC has integrated with the two largest genome browsers, the Ensembl system and the UCSC cancer genomics browser; links are available from and to Ensembl, whilst per-tissue summaries are provided graphically in the UCSC browser. In addition, COSMIC has integrated its own genome browser, a version of ‘Gbrowse’, which provides custom genomic views of the majority of COSMIC data, together with CONAN copy number graphs, within the context of full genome annotations. Looking to the future, much novel global cancer genomics data will soon be made available via the ICGC data coordination centre. COSMIC is well placed to utilize this as a major new source of mutation information, maintaining COSMIC9s position as a central resource in human cancer genetics. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 46. doi:10.1158/1538-7445.AM2011-46