Germline mtDNA Variants and Somatic mtDNA Mutations in Pediatric Brain Tumors

All Brain Tumor Types
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CBTN Participants

About this


Mitochondria are membrane-bound cell organelles that generate most of the chemical energy needed to power the cell's biochemical reactions. Energy is important for Cancer as tumors have an increased number of cells requiring energy. Cancer has developed alternate energy mechanisms to grow and sustain the increase of tumor cells. Germline mutations are mutations that can be passed down to offspring through gametes (reproductive cells, sperm and egg) and somatic mutations are those that occur in any cells other than gametes. Mutations can occur in DNA including DNA in the mitochondria, mtDNA. Previous studies have found that mtDNA mutations vary significantly from one tumor subtype to another. Understanding these differences could lead to more efficient diagnoses and therapies. The Pediatric Brain Tumor Atlas is the largest and most comprehensive database of its kind, including robust Whole Genome Sequencing (WGS) datasets. These datasets include information on germline and somatic mtDNA mutations across many tumor subtypes that will be analyzed by researchers in order to understand their contributory roles, if any, to both the genetic risk for and the cancer development, growth and survival of pediatric brain tumors.

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Ask the scientists

What are the goals of this project?

Researchers will analyze the WGS data of many cancer types looking for mutations in mitochondrial DNA that could contribute to the development, growth and survival of pediatric brain cancers.

What is the impact of this project?

Previous studies have shown that mutations in mtDNA varies significantly between tumor subtypes. Understanding these differences is crucial in the diagnosis and treatment of pediatric brain cancer.

Why is the CBTN request important to this project?

The unique and comprehensive dataset available through the Pediatric Brain Tumor Atlas is crucial for the completion of this work.

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