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.