Surveillance and Counselling

The study recommends ongoing follow-up and genetic counselling for families of children with P/LP cancer-predisposition variants. Longitudinal surveillance is needed for NF1 and TSC2 P/LP carriers who had not yet developed tumours. Genetic…

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The study recommends ongoing follow-up and genetic counselling for families of children with P/LP cancer-predisposition variants. Longitudinal surveillance is needed for NF1 and TSC2 P/LP carriers who had not yet developed tumours. Genetic counsellors are described as central to explaining risks and guiding surveillance and intervention. Children already diagnosed with cancer should be assessed for possible underlying malformation syndrome by a clinical geneticist.