The IntOGen-mutations platform (http://www.intogen.org/mutations/) summarizes somatic mutations, genes and pathways involved in tumorigenesis. It identifies and visualizes cancer drivers, analyzing 4,623 exomes from 13 cancer sites. It provides support to cancer researchers, aids the identification of drivers across tumor cohorts and helps rank mutations for better clinical decision-making.

Main

The exponential growth of data sets of somatic mutations from tumor samples^{1, 2} demands analysis methods for a comprehensive understanding of cancer mutations, genes and pathways across tumor types. Several cancer genomics portals with data from resequenced cancer genomes exist^{3, 4, 5}, but none of them systematically analyzes the data across various sequencing projects.
IntOGen-mutations is a Web platform used to identify cancer drivers across tumor types and to present the results of the systematic analysis of most currently available large data sets of tumor somatic mutations. It builds upon concepts similar to our original IntOGen platform, which focused on transcriptomic alterations and copy-number gains and losses in tumors⁶.
The IntOGen-mutations pipeline integrates the results of tumor genomes analyzed with different mutation-calling workflows and is scalable to hundreds of thousands of tumor genomes. It currently includes OncodriveFM⁷, a tool that detects genes that are significantly biased toward the accumulation of mutations with high functional impact (FM bias) without the need to estimate background mutation rate⁸, and OncodriveCLUST⁹, which picks up genes whose mutations tend to cluster in particular regions of the protein sequence with respect to synonymous mutations (CLUST bias) (Online Methods). Both tools detect signals of positive selection, which appear in genes whose mutations are selected during tumor development and are therefore likely drivers.