About this
Project
RASopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. Neurofibromatosis type 1 (NF-1) is the most common RASopathies associated with central nervous system (CNS) cancers. Germline mutations, mutations that can be passed down, reported in non-NF-1 RASopathies overlap with the other mutations found in several pediatric cancers, particularly low-grade gliomas (LGGs). Since non-NF-1 RASopathies can be often overlooked or misdiagnosed, researchers believe their association with CNS cancers may be more common than currently recognized. Researchers also hypothesize that the molecular abnormalities in CNS cancers in subjects with non-NF-1 RASopathies will be distinct from non-affected patients. This difference could influence a patient’s response to new treatments. Researchers will increase the sample size and impact of this project through access to data in the Pediatric Brain Tumor Atlas.
Ask The
Scientists
What are the goals of this project?
Researchers will investigate the connection of RASopathies in the growth and development of pediatric brain tumors and their response to therapies.
What is the impact of this project?
Understanding this connection could lead to the development and optimization of new therapies for pediatric brain cancer patients with RASopathies.
Why is the CBTN request important to this project?
The comprehensive data available through the Pediatric Brain Tumor Atlas will serve to expand the sample size and impact of this project.
Specimen Data
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.