Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor
development. Optic pathway glioma (OPG) is the most frequent central nervous system …

Abstract Background Neurofibromatosis type 1 (NF1) is a cancer predisposing syndrome.
Studies suggest that women< 50 years old (yo) with NF1 have an increased breast cancer …

Objective Because clinically validated biomarkers for neurofibromatosis 1 (NF1) and
neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether …

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition
syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations …

The majority of pathogenic mutations in the neurofibromatosis type I (NF1) gene reduce total
neurofibromin protein expression through premature truncation or microdeletion, but it is …

Simple Summary Neurofibromatosis type 1 (NF1) is a complex disorder characterized by a
multisystem involvement and cancer predisposition. It is caused by genetic variants in NF1 …

Simple Summary Neurofibromatosis type 1 (NF1) is a genetic disorder caused by
pathogenic variants in the NF1 tumor suppressor gene. In 5–10% of NF1 patients, a large …

The occurrence of optic pathway gliomas (OPGs) in children with neurofibromatosis type 1
(NF1) still raises many questions regarding screening and surveillance because of the lack …

Spinal neurofibromatosis (SNF) is a form of neurofibromatosis type 1 (NF1) characterized by
bilateral neurofibromas involving all spinal roots. The pathogenic mechanisms determining …

Neurofibromatosis Type I (NF1) is caused by variants in neurofibromin (NF1). NF1
predisposes to a variety of benign and malignant tumor types, including breast cancer …