Defining the Global Impact of Somatic Structural Variation on the Transcriptome of Human Pediatric Brain Cancers

Somatic structural variants (SSVs) are mutations arising in tumors that involve large segments of DNA in somatic cells, cells of the body that are not eggs or sperm. Researchers seek to identify genes for which the presence of nearby SSV regions is associated with altered expression. Altered expression may involve gene fusions, gene disruption, and changes to regulation. All of these states of altered gene expression could be connected to the development of various pediatric brain cancers. The idea that SSVs may alter gene regulation or form gene fusions is well known to science, but specifics about what genes are altered in what cancer types has yet to be explored. Researchers have previously conducted integrative analysis on adult cancer populations and this project is an opportunity to use those methods on data from pediatric cancer populations. Through access to the Pediatric Brain Tumor Atlas, researchers will identify SSV patterns across tumor types that could lead to more accurate diagnostics and targeted therapies. This project is an opportunity for researchers to apply their integrative analysis methods to pediatric cancers in a way not previously done before in this cancer patient population.