Cancer Predisposition Syndromes in Children: Who, How and When Should Genetic Studies Be Considered?

Early detection of cancer predisposition syndromes (CPS) is crucial to determine optimal treatments and follow-up, and to provide appropriate genetic counseling. This study outlines an approach in a pediatric oncology unit, where 50 randomly selected patients underwent clinical assessment, leading to 44 eligible for genetic testing. We identified 3 pathogenic or likely pathogenic variants in genes associated with CPS and 6 Variants of Uncertain Significance (VUS) potentially associated with cancer development. We emphasize the importance of a thorough and accurate collection of family history and physical examination data and the full coordination between pediatric oncologists and geneticists.