Conclusions
The role of the pediatric oncologist in collaboration with geneticists is fundamental in the study of familial childhood cancer. We recommend genetic testing by NGS (WES or target panel exome) in all patients if possible. If it is not possible to test all patients, the care team should ensure that all patients meeting any risk criteria for having a CPS are tested. Only in cases of high clinical suspicion of a particular syndrome, a targeted gene study is an option.
A thorough and accurate family history and a comprehensive physical examination for syndrome-related data are critical in identifying patients who are candidates for CPS risk screening. Dedicating a specific appointment to this topic may increase the likelihood of identifying these patients. This appointment may be more practical not at the time of initial diagnosis, but later in the course of the disease, when the initial concerns of the patient and the family have been addressed.