Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.

Inclusion Criteria:

• Age 40 or older.
• NF type 1 diagnosed using clinical criteria.
• At least one neurofibroma present at time of enrollment.
• Patient able to read and understand consent form (or equivalent translation) and able to give consent.
• Patient able and willing to complete all study procedures.