TABLE 1. Data collected in the familial cancer appointment.
If the patient met at least one criterion (listed on Table 1), blood samples were collected from the child and both parents. A targeted exome sequencing based on a panel of 110 genes frequently associated with childhood cancer was performed on the patient. The genes studied are shown in the supplementary file (Table 2 of supplementary material).
In each patient, we additionally gathered the same data (physical exam and family history) directly from the patient’s medical record before this scheduled visit (”pre” data). Our objective was to assess whether the structured approach, in a dedicated medical appointment, and consistent data collection by the same oncologist or a trained associate, influenced the study’s selection criteria outcomes.
Retrospectively, we have validated our selection criteria by comparing them with the results we would have obtained with one of today’s most widely used tools, MIPOGG14-16.