Structural variants (SVs) are mutations arising in tumors that involve large segments of DNA. Scientists identify SVs and patterns of SVs through genome sequencing, identifying the genes in a particular set of DNA. Through recent advancements in the methods used for genome sequencing, the pace of identifying SVs and the mechanisms they affect is getting faster and faster. Some of these mechanisms are associated with particular cancer types. In some cases, SVs are the main cause of the structural mutations that drive the development and progression of tumors. Researchers on this project aim to study how somatic SVs are formed, how they drive disease progression and how they impact treatment across pediatric brain tumor types. Identification of SVs and their impacts could lead to advanced diagnostics and therapeutics. The Pediatric Brain Tumor Atlas will provide researchers with a broad and unique set of data on pediatric brain cancers to interrogate.
What are the goals of this project?
The goals of this project are to study how somatic SVs are formed, how they drive disease progression and how they impact treatment across pediatric brain tumor types.
What is the impact of this project?
Identification of pediatric brain cancer drivers such as SV will pave the way for the development of more accurate diagnostics and more effective therapies.
Why is the CBTN request important to this project?
The data available through the Pediatric Brain Tumor Atlas gives researchers insight into the entire genome of pediatric brain cancers, allowing for the identification of SVs.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.