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