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  • New Milestone for COSMIC with Extensive Cancer Mutation Data

    The Catalogue of Somatic Mutations in Cancer (COSMIC), the largest and most comprehensive resource for genetic mutations associated with human cancers, has released its 100th version (v100) as of May 21st. This milestone marks two decades of meticulous work, expanding the knowledgebase to over 24 million genomic variants, with more than 307,000 new additions.

    A Comprehensive Knowledgebase
    COSMIC, housed at the Wellcome Sanger Institute, serves as a crucial repository for global cancer genomic data, providing a gold-standard, accessible knowledge base. This extensive resource enables researchers to explore new therapeutic targets and better understand the mutational landscapes of various cancers. The latest version includes novel mutations from 4,482 tumor samples, focusing particularly on the BRAF and RAS genes, which play significant roles in cancer development.

    New Features in v100
    Version 100 introduces the Experimental Signatures collection, which allows users to observe mutation patterns resulting from different exposures across various species, including model organisms. This new feature aids in understanding how different environmental factors contribute to cancer mutations.

    Despite the ongoing journey toward fully understanding cancer genetics, v100 exemplifies COSMIC's commitment to providing a comprehensive and evolving database. This release underscores the potential for
    developing personalized cancer treatments and advancing toward the next era of precision medicine.


    Unique Approach and Methodology
    COSMIC's methodology is distinctive, combining semi-automatic data annotation with manual curation to ensure both breadth and depth of genomic information. Every dataset undergoes a stringent quality control process by expert curators to maintain high standards. This rigorous approach ensures that the information remains reliable and valuable for researchers worldwide.

    Karen McLaren, Head of Product and Delivery at COSMIC, emphasized the importance of user engagement: “The most important aspect of the COSMIC knowledgebase is the users and how the data and insights boost their research, discoveries, and advancements in oncology. The interactions with our users are integral to our product development as their needs are the core drivers for our innovation and growth.”

    Broad Applications and Future Directions
    COSMIC's datasets are instrumental in multiple research and clinical applications, including identifying cancer driver mutations, characterizing mutational landscapes, exploring therapeutic targets, and validating biomarkers for cancer prognosis and treatment response. Additionally, COSMIC supports drug sensitivity and resistance studies, providing insights into genetic factors influencing these outcomes.

    Dr. Gianmarco Contino, Associate Professor of Cancer Genomic Medicine and Consultant Upper GI Surgeon at the University of Birmingham, praised COSMIC's utility: “On a daily basis, the COSMIC catalog is the place to go if you want to check that a mutation found in a sample or a cohort of patients have been found in other cancers, or whether, for example, a gene is altered through other mechanisms such as copy number alterations or structural variants. It's really the 'Yellow Pages' of somatic mutations.”

    COSMIC's multidisciplinary team and their ability to work at scale position the knowledgebase as a sustainable bioinformatics resource, upholding the principles of findability, accessibility, interoperability, and reusability (FAIR). As the field of cancer genomics continues to grow, COSMIC remains a cornerstone in the quest to understand and combat cancer.

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