Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one
of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 …

RASopathies are a group of related genetic disorders caused by mutations in genes within
the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and …

The autosomal dominant monogenetic disease neurofibromatosis type 1 (NF1) affects
approximately one in 3,000 individuals and is caused by mutations in the NF1 tumour …

High-grade diffuse glioma (HGG) is the leading cause of brain tumour death. While the
genetic drivers of HGG have been well described, targeting these has thus far had little …

Numerous successful gene-targeted therapies are arising for the treatment of a variety of
rare diseases. At the same time, current treatment options for neurofibromatosis 1 and …

Cutaneous neurofibromas (cNFs) are benign Schwann cell (SC) tumors arising from
subepidermal glia. Individuals with neurofibromatosis type 1 (NF1) may develop thousands …

Sarcomas, primary malignant tumors affecting most children and young adults, present high
metastasis recurrence and extremely poor clinical prognosis, posing an urgent need for new …

Abstract Neurofibromatosis Type 1 (NF1) is a complex genetic disease that can display a
variety of phenotypes including skin lesions, cardiovascular abnormalities, skeletal …

Neurofibromatosis Type 1 (NF1) is a complex, yet relatively common, monogenic disorder
that can lead to a variety of detrimental phenotypes. However, the mechanisms behind these …