MutaGene is a new, freely available resource for understanding the mutagenic factors contributing to tumor development.
Cancer arises from multiple changes in the DNA that can be caused by various extrinsic factors, such as sunlight and tobacco smoking, and intrinsic factors, such as the body’s own defense mechanisms fighting against viral infection or faulty DNA copying and repair molecular machinery. Knowing what factors contribute to the accumulation of mutations in a given cancer patient can be crucial for prognosis and identifying correct treatment.
MutaGene utilizes the wealth of cancer genomics data collected by The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC) by analyzing somatic mutations and their local DNA context in about 10,000 cancer donors and 37 different tumor types and subtypes. MutaGene builds mutational profiles of tumors and identifies the combinations of underlying somatic mutagenic processes.
MutaGene includes several different tools helping to identify the most likely mutagenic processes, cancer type and primary tumor site for any given set of mutations. In addition, MutaGene calculates expected DNA and protein site mutability to decouple relative contributions of mutagenesis and selection, which is essential for identifying mutational events that drive cancer development and progression.
Many cancer types are heterogeneous, meaning that they originate from different factors and have different progression and treatment strategies. MutaGene helps to identify the molecular subtype of heterogenic cancers. Linking the molecular fingerprint of mutational processes in a tumor with its genotype and clinical profile provides a valuable new dimension of information for researchers to explore in attempting to understand cancer as a genetic disease.
The paper describing MutaGene has been published in Nucleic Acids Research.