In oncology research, identifying potentially actionable gene alterations and exploiting cancer’s molecular vulnerabilities is becoming increasingly difficult. Due to the sporadic nature of somatic cancers, the number of variants detected is rapidly rising.

Clinical research labs are tasked with confidently identifying meaningful mutations that could influence or improve decisions at the point of care. To do this, they need ready-access to trusted data to validate biomarkers and better assess their biological and clinical relevance. And this is precisely what the Human Somatic Mutation Database (HSMD) provides.

HSMD can be used to:

1. Gain insights from real-world data and two decades of expert curation: HSMD’s oncology dataset combines manually-curated content from the QIAGEN Knowledge Base─the industry’s largest collection of biological and clinical findings─with data from over 419,000 real-world clinical oncology cases that have been analyzed and interpreted by QIAGEN’s professional clinical interpretation service. With HSMD, researchers don't need to collect information manually across different knowledge bases and resources.
2. Quickly classify VUS’ and controversial variants: Labs sometimes risk of over-interpreting variants of unknown significance (VUS), which could lead to unnecessary or potentially harmful treatments. When you encounter a variant with limited information, you can use HSMD to look for observed clinical case distribution, biochemical impact, functional impact, and actionability.
3. Analyze complex genetic reports: Molecular tissue profiling often generates difficult-to-interpret genomic information─making the resulting reports either too complex or lacking in data on the clinical actionability of detected variants. HSMD can be used to rapidly drill down to variant-level information, derive actionable data from complex reports and evaluate clinical impact.
4. Stay up to date: HSMD’s content is updated weekly, so labs can ensure that variant interpretation reports are based on the most relevant and timely evidence. Over 5,000 manually curated alterations are added to it each month.
5. Establish an in-house bioinformatics pipeline: HSMD can be used to develop an in-house pipeline to help manual variant curation. Using HSMD, labs can annotate a single variant in under 15 minutes. Ordinarily, manually curating one variant can take an experienced curator 3-4 hours to complete. Depending on the size of the panel, a single VCF file can contain thousands of variants to annotate. This requires the lab to search for available data online and query population databases and gene-and/or locus-specific databases to perform in silico analysis, evaluate the literature, analyze functional studies, and find clinical trials and relevant therapies.

HSMD 2.0 comes with over 140,000 new alterations, improved data visualization and new structural variants. The dataset now contains over 419,000 clinical oncology cases and over 1.5 million mutations associated with over 4.2 million relationships from PubMed, drug labels, clinical trials, clinical guidelines and public databases such as gnomAD and HGMD.

Read the statistics sheet.

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.