COSMIC – Powering Precision Oncology Research and Development

Author:

QIAGEN Digital Insights

COSMIC – Powering Precision Oncology Research and Development

Around two decades ago, the amount of data about cancer genomes began to increase rapidly. Managing, viewing, and searching for data from disparate locations, publications and databases became a significant challenge for researchers, bioinformaticians, and clinicians. Simple spreadsheets were no longer adequate enough to capture and house the data either.

To solve these issues, scientists at the Wellcome Sanger Institute developed the Catalogue of Somatic Mutations in Cancer (COSMIC) in 2004. COSMIC is the world’s largest and most comprehensive database of somatic mutations in human cancers. Through manually curation by experts for over 16 years, COSMIC holds all previously siloed high-quality somatic mutation information in one platform. The most recent release details more than 37 million coding mutations across almost 1.5 million tumor samples covering 1460 forms of human cancers.

Accelerating cancer genomics insights

COSMIC has gained several valuable features and functionalities over the years. Most of the early enhancements were focused on standardizing the genotypic and phenotypic terms and data formats used— making it possible to analyze data across different studies and cancer types.

Some of the more recent additions to COSMIC are:

  • the Cell Lines Project (CLP), which provides high-quality, consistent annotations for somatic mutations, genome-wide copy numbers, and expression data across 1,020 cell lines commonly used as laboratory models
  • the Cancer Gene Census, which catalogues 723 genes that contain mutations causally implicated in cancer and explains how dysfunction of these genes drives cancer
  • the Cancer Mutation Census (CMC), which classifies the significance of each coding mutations based on a set of parameters to predict candidates for driver mutations

And now, joining the COSMIC suite is the new ‘Mutation Actionability in Precision Oncology” product.

Mutation Actionability in Precision Oncology (Actionability)

Actionability provides up-to-date information on drugs that target specific somatic mutations at all stages of development— from early case studies to clinical development all the way through to market. With Actionability, you can stay informed on the currently available drugs for a specific somatic mutation, the reasons behind clinical trial withdrawals or terminations, and the mutations being investigated outside of clinical trials. It curates this information from multiple sources, including clinical trials, journal articles, conference abstracts, corporate websites, and FDA submissions.

The first release of Actionability features manually curated data on 805 drugs, 1657 drug combinations, 181 genes, and a total of 2798 trials. The data is available in three forms: as a table organized per gene, as a complete download file, and as a sample file.

Download Sample Data

Fueling advances in cancer treatment

Since its inception, the COSMIC database has achieved its foundational goal—to be the source of all cancer genomic knowledge. It is the most comprehensive somatic mutation database available in the world. Now, COSMIC drives future breakthroughs and advances in cancer research and treatment.

Want to find out more about COSMIC and how it can support your investigations of cancer-causing mutations? Then watch our on-demand webinar on COSMIC.