The role of “adult onset” cancer predisposition genes in pediatric cancer

While survival rates for pediatric cancer have improved in recent decades, cancer remains the leading cause of death by disease in children. Recent advances in genetic testing capabilities, including next generation sequencing (NGS), have led to a better understanding of the genetic causes of pediatric cancer. There is increasing evidence that a significant proportion of children with cancer (around 10%) are born with genetic alterations that predispose to the development of cancer. Importantly, some of these genes were previously thought to only cause cancer in adults (referred to as adult-onset cancer predisposition genes (aoCPGs)). This finding makes us question whether some of these “adult-onset” genes can also cause cancer in children. In this study, our goal is to better describe how often children with cancer have a deleterious variant in aoCPGs, and what cancers are most likely to be associated with deleterious variants in aoCPGs. Understanding this better will allow for better testing, education, and screening of children who are at risk for developing cancer.