Decoding the Dark Matter of the High-Risk Paediatric Cancer Genome

Precision oncology is the treatment of cancer that identifies and targets specific pieces of the cancer genome called driver mutations. Driver mutations are changes to DNA connected to the development of cancers. However, many pediatric cancers seem to lack driver mutations, making the application of precision oncology challenging. High-risk pediatric cancers have low survival rates, and despite best efforts using advanced DNA sequencing, very few mutations to explain this aggressiveness have been found. Researchers on this project propose that poor outcomes could be explained by mutations in the non-coding genome, pieces of DNA that do not instruct the production of proteins. Research will investigate these under-explored mutations, called somatic point mutations, in hopes of explaining poor outcomes and guiding new treatments. This innovative study will be the largest study of patients with cancers linked to these under-explored mutations to date.