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Suzanne P. MacFarland

Children’s Hospital of Philadelphia
Philadelphia, PA, USA



CBTN Participants

About this


A germline mutation is a genetic mutation that can be passed onto offspring, and there are germline mutations that could cause predisposition to pediatric nervous system cancers. Previous studies have shown that approximately 8% of patients with pediatric cancer had germline mutations and a high proportion of those patients had central nervous system tumors. This was especially true in patients with high-grade gliomas (HGG), atypical teratoid rhabdoid tumors (ATRT), SHH medulloblastomas, and retinoblastomas. Researchers will use data from the Pediatric Brain Tumor Atlas along with patient’s clinical data and family history to further study the impacts of predisposition to central nervous system tumors on patient outcomes. This information is important for both patients and their families who may share predisposition.

Ask The


Ask the scientists

What are the goals of this project?

Researchers will use data collected across brain cancer types along with patient’s clinical data to study the impacts of cancer predisposition on patients with pediatric brain tumors.

What is the impact of this project?

Gaining information about the genetic predisposition to cancer of pediatric brain tumor patients is important for informing clinical care of individual patients and their family members who may share this predisposition.

Why is the CBTN request important to this project?

The Pediatric Brain Tumor Atlas has an unmatched breadth and depth of data concerning pediatric brain tumors that is integral to this research.

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