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.
What are the goals of this project?
This project has goals to identify SSV patterns across tumor types that lead to gene alteration and the development of pediatric brain cancers.
What is the impact of this project?
By clarifying the role of SSVs in the development of pediatric brain cancers, researchers can develop better diagnostics and new therapies for many pediatric brain cancer types.
Why is the CBTN request important to this project?
Researchers have previously conducted similar research using adult cancer populations. This project is an important opportunity for researchers to apply their analysis methods to the pediatric cancer population through access to the Pediatric Brain Tumor Atlas.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.
Fengju Chen, Senior Biostatistician
Yiqun Zhang, Senior Biostatistician
A Pediatric Brain Tumor Atlas of Genes Deregulated by Somatic Genomic Rearrangement
The global impact of somatic structural variants (SSVs) on gene expression in pediatric brain tumors has not been thoroughly characterised. Here, using whole-genome and RNA sequencing from 854 tumors of more than 30 different types from the Children’s Brain Tumor Tissue Consortium, we report the alt
Yiqun Zhang, Fengju Chen, Lawrence A. Donehower, Michael E. Scheurer & Chad J. Creighton