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DICER1, MicroRNAs and Pediatric Cancer: An Emerging Story

Research Institute of the McGill University Health Centre
William Foulkes, MD, PhD
Grant Type: 
Innovation Grants
Year Awarded: 
Type of Childhood Cancer: 
General Pediatric Cancer
Project Description: 

miRNAs are small molecules involved in almost every aspect of normal cellular function throughout the human body. The DICER1 protein is one of the proteins responsible for fabricating the right size, type and quantity of miRNAs in our cells. We know from recent studies that inherited mutations in the DICER1 gene predispose someone to cancer. These mutations are rare but cause tumors that occur early in life, affecting children and young adults (one example is malignant lung cysts in infants, named pleuropulmonary blastoma, which can be lethal).

Project Goal
In this proposal, our focus is to identify families in which inherited DICER1 mutations are present. The immediate benefit of identifying these mutations will be to allow us to offer genetic counseling and screening to these families so that infants found to carry mutations can be followed closely before they develop tumors.

We will collect tumor tissue obtained from pathology archives or from research laboratories that may have obtained these tumors at the time patients were diagnosed. We will use genetic material from these tumors to investigate the genetic abnormalities present in these tumors and we will perform molecular analyses to discover how the DICER1 mutations modified the behavior of miRNAs in the cell to cause tumors to develop.

The long-term goal of this research is to gather knowledge that can be used to discover new therapies targeted against the specific changes that occur in tumors where DICER1 function is impaired.