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).