Article
The NF1 gene in tumor syndromes and melanoma.
Laboratory investigation; a journal of technical methods and pathology - 1 Feb 2017
Kiuru Maija, Busam Klaus J
Abstract excerpt
Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant, NF1-mutant, and triple wild-type tumors. The NF1 protein, neurofibromin 1, negatively regulates RAS proteins through GTPase activity. Germline mutations in NF1 cause neurofibromatosis type I, a common genetic tumor syndrome caused by...
Topics
- Genetic Predisposition to Disease
- Humans
- Melanoma
- Models, Genetic
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Signal Transduction
- Skin Neoplasms
- Syndrome