In conclusion, our study on recurrent NF1 variants shows that the features of recurrence in the NF1 gene are not univocal but involve the most common mutational mechanisms in humans; furthermore, the genotype/phenotype correlation indicates that several variants are associated with a very high risk of disease complications and suggests an initial link between variants in the 5′ end of the gene and a lower risk of cancer complications of the disease, although not significant at the multivariate analysis. Here, NF1 is linked to cancer.