Catalogue of Somatic Mutations in Cancer (COSMIC)
A trusted resource to better understand somatic cancer mutations
The world's largest, expert-curated somatic mutation database
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Bringing together the world's information on somatic mutations
COSMIC, the Catalogue Of Somatic Mutations In Cancer is the world’s largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer. Owned and updated quarterly by the Wellcome Sanger Institute, COSMIC is exclusively licensed through QIAGEN. The database is designed to bring together the world’s information on somatic mutations in human cancer into one single system and make it easily explorable.
Features
COSMIC Actionability
A resource that addresses the question “What treatment options are available or under investigation for cancer patients with somatic mutations?”
COSMIC Actionability delivers the latest data on the availability and development of drugs targeting specific somatic mutations in cancer.
Actionability covers clinically relevant mutations and alteration types in relevant genes for some of the most frequently sequenced cancer types such as lung, breast, melanoma, ovarian, and colon cancer.
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Actionability covers clinically relevant mutations and alteration types in relevant genes for some of the most frequently sequenced cancer types such as lung, breast, melanoma, ovarian, and colon cancer.
High Precision, Manual Curation
COSMIC deploys high precision manual curation methods by PhD-level experts with decades of experience.
The primary data in COSMIC are derived directly from the scientific literature by expert manual curators, who read and digest journal articles and extract detailed mutation data, along with additional information such as environmental factors or patient pre-disposition that may be accessible.
A second curation track brings into COSMIC a wealth of larger-scale but more narrowly-focussed data from systematic screens, via the major cancer data portals and from the supplementary tables and downloadable files associated with curated papers.
A second curation track brings into COSMIC a wealth of larger-scale but more narrowly-focussed data from systematic screens, via the major cancer data portals and from the supplementary tables and downloadable files associated with curated papers.
Exponential Increase in Mutations
Over the last five releases, COSMIC has increased the number of genomic mutations by over 15%.
Every four months, COSMIC content and features are updated to ensure you remain informed on the latest findings.
In the last five releases, over 3.4 million new mutations, over 93,000 new samples, and over 1,700 new articles were added.
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In the last five releases, over 3.4 million new mutations, over 93,000 new samples, and over 1,700 new articles were added.
Genome-Wide Annotation
COSMIC provides genome wide annotation with over 23 million genomic variants across 6,800 precise cancer types.
COSMIC encompasses every human gene, describing 5,037,981 coding mutations across 1,515,965 samples.
Key cancer genes are subject to deep, exhaustive curation by expert scientists. This is merged with genome-wide annotations from 41,161 whole genome and large-scale systematic screens publications, as well as open-access data from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC).
VIEW DATABASE STATISTICS
Key cancer genes are subject to deep, exhaustive curation by expert scientists. This is merged with genome-wide annotations from 41,161 whole genome and large-scale systematic screens publications, as well as open-access data from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC).
Real Human Samples
In COSMIC, every data point is traceable to the source, data processing is documented, and the user has full control over all the data.
The data organization structure of COSMIC is fully transparent.
All of the data sources that contribute to COSMIC’s ability to help molecular pathologists characterize cancer samples and mutations, such as peer-reviewed papers, genome-wide screen data, and cancer cell line omics data, can be reviewed via direct evidence source references.
All of the data sources that contribute to COSMIC’s ability to help molecular pathologists characterize cancer samples and mutations, such as peer-reviewed papers, genome-wide screen data, and cancer cell line omics data, can be reviewed via direct evidence source references.
Easy Search Functionality
With COSMIC, you can search for Disease, Gene, Variant, Sample, or Study with all data derived directly from a cited
source.
COSMIC is designed to provide ease-of-use and maximum flexibility. Users have full control of how they search the data, visualize the data, and manipulate the data for specific panels and/or pipelines.
You can integrate the complete raw dataset into your lab’s proprietary database.
You can integrate the complete raw dataset into your lab’s proprietary database.
COSMIC use-case
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How to search by gene, cancer type, and mutation
Here, we show you how to search COSMIC for a gene, cancer type, and mutation using BRAF as an example.
To browse COSMIC you can simply navigate to the main page and search for a gene, cancer type, mutation, etc in the search box. To illustrate we will explore the results for a single gene. Type BRAF in the search interface and hit enter.
If you select the BRAF result, COSMIC returns a detailed page that provides: gene summaries, links to other COSMIC resources (e.g., Census genes, Hallmark genes, etc), external links, drug resistance, tissue distribution, genome browser view, mutation distribution, variants, and references.
First, let’s look at the Overview section. Along the top of this section there are several useful icons. The ‘Census gene’ icon tells us that BRAF is a known cancer gene according to the Gene Census (see below). The next three icons tell us that it is also an ‘Expert curated gene’, that mouse insertional mutagenesis experiments support that BRAF is a cancer gene, and finally that BRAF is a ‘Cancer Hallmark’ gene. After these icons are many more details about BRAF including coordinates, synonyms, link to COSMIC-3D (see below), and more.
Next, let’s examine the Gene view. The histogram of mutation (substitution) frequency shows a very dramatic “hotspot” of mutations at position 600 (e.g., p.V600E). Mouse over this part of the histogram to see details. This is a very well-known driver mutation in multiple types of cancer.
Finally, navigate to the ‘Tissue distribution’ section. Sort the table by ‘Point mutations’ -> ‘% Mutated’. Notice that cancers of the thyroid and skin (e.g., melanoma) are by far the most consistently mutated at the BRAF gene locus (note NS means not specified). A subset of samples also display copy number variation (CNV) gains and up-regulated expression. In general certain predominanly mutated genes tend to be associated with cancers of certain origins. However, there are many exceptions to this statement and some genes (e.g., TP53) are widely mutated in many different cancer types.
Resources
Learn more about COSMIC
White Paper
Examine a use-case of how to use COSMIC to track the progress of ERBB2-targeted therapies.
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