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Cancer Susceptibility and Signaling Pathways in Low-Grade Brain Tumors

Jewish General Hospital
Bárbara Rivera, PhD
Grant Type: 
Young Investigator Grants
Year Awarded: 
Type of Childhood Cancer: 
Brain Tumors, Choroid Plexus Tumors
Project Description: 


Hereditary cases of benign brain tumors are rare but they are devastating to affected children. Furthermore, knowledge gained by studying hereditary tumors can then be applied to better understand and treat non-familial cases. Our group discovered that defects in the fibroblast growth factor (FGF) pathway are involved in the development of brain tumors causing epilepsy. 

Project Goal:

In this study, we will inventory proteins specifically present in tumors with mutations in the gene FGFR1 to identify proteins or groups of proteins that participate directly in tumor formation. We hope to use this information to explore new cancer treatments as well as anti-epileptic drugs that target these proteins to help reduce seizures in affected children. We will also attempt to elucidate specific patterns of changes (mutations) responsible for the increased susceptibility to developing epileptic brain tumors in rare hereditary conditions called RASopathies known to have defects in the FGF pathway. 

In a parallel objective, we will extend our study to another type of brain tumors called Choroid Plexus Tumors that account for up to 20% of brain tumors in children younger than 2-years-old. Our first goal will be to discover the genetic causes of these tumors to help provide better classification and more accurate diagnoses among different subtypes. If we successfully identify a gene or pathway linked to cancer risk, we will follow the same experimental protocol as described for epileptic tumors above to investigate which proteins participate in tumor development and explore new treatment avenues.