Neurofibromatosis type 1 families with first-degree relatives harbouring distinct <i>NF1</i> pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Our results, together with previous cases reported, suggest that the offspring of male patients with NF1 could have an increased risk of experiencing de novo NF1 pathogenic variants. This observation, if confirmed in additional cohorts, could have relevant implications for NF1 genetic counselling, family planning and <i>NF1</i> genetic testing.