Molecular Characterization of Pediatric Brain Tumor Subjects and Trios within the Pediatric Brain Tumor Atlas

We have not yet discovered why the vast majority of children develop brain cancer, and researchers are always looking for ways to advance their research to answer this question. As part of the launch of the Kids First DRC in 2017, principal investigators within CBTN collaborated to provide an initial cohort of ~1000 WGS/RNAseq tumor/normal whole genome and RNA sequencing to the database. This contribution supported the launch of the Pediatric Brain Tumor Atlas. This proposed cohort will work to integrate, for the first time, the underlying genetic contribution of the disease. Highly recurrent genomic alterations, or changes in the genome of a tumor, will be targeted as likely candidates for tumorigenesis, or the origin of a tumor’s growth. Understanding tumorigenesis is key in developing effective diagnostics and treatment plans. Additionally, recent advances have been made to understand the connection between brain tumors and birth defects and this project will support continued efforts. Combining the Kids First Data resource coupled with brain tumor sequence data generated by the CBTN and additional data noted in this project’s proposal will allow for the exploration of such connections. All analyses will be performed in CAVATICA and the Kids First Data Resource Varian Workbench setting.