Defining the global impact of somatic structural variation on the transcriptome of human pediatric brain cancers

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CBTN Data Used


Cancer Center Grant

About this


By integrative analysis of somatic structural variants (SSVs)  and gene expression data from the ~854 pediatric brain cancers in the Children's Brain Tumor Tissue Consortium (CBTTC), we will identify genes for which the nearby presence (within 1 Mb) of a somatic SSV breakpoint is associated with altered expression.

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What are the goals of this project?

We seek to identify genes for which the presence of nearby somatic structural variants (SSVs) breakpoints is associated with altered expression, which may involve gene fusions, altered cis-regulation, or gene disruption.

What is the impact of this project?

The fact that SSVs may alter gene regulation or form gene fusions is certainly well known. However, which specific genes may be altered in which cancer types remains to be explored. Our pan-cancer approach as applied to CBTTC data will allow us to identify SSV patterns cutting across diverse histologic types. Such phenomenon represent an important class of noncoding somatic alterations driving specific cancers.

Why the CBTN request is important to this project?

The CBTN data represent an opportunity to apply our integrative analysis methods (previously applied to the study of adult cancers) to pediatric cancers, to examine SSV-mediated alterations in a way not previously done before in this cancer patient population.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.

Explore the data in these informatics portals