Study design and participants
Ethical approval was obtained through the regional scientific ethical committee. Within the Pediatric Oncology department at HM Oncology Center (CIOCC), HM Monteprincipe, all children with a malignancy, who had finished their treatment were invited to participate in the study. Patients who already had a diagnosis of a CPS as an early approach in the acute phase or based on family history were excluded. A pediatric oncologist trained in genetic counseling explained the procedure, as well as its benefits and limitations. Informed consent was obtained from the patient (if age-appropriate) and/or their parent/legal guardian.
Consented patients underwent a comprehensive cancer susceptibility assessment with a pediatric oncologist, involving thorough physician examinations, extensive three-generation family history, and collection of tumor and somatic mutation data if available. Data were collected based on established risk factors associated with CPS and were recorded in a standardized form (Table 1). The malignancies included as frequently associated with CPS are described in the supplementary file (Table 1 of supplementary material).