The NF1 gene in tumor syndromes and melanoma. Review uri icon

Overview

abstract

  • 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 dysregulation of the RAS/MAPK pathway, ie, RASopathy. Melanomas with NF1 mutations typically occur on chronically sun-exposed skin or in older individuals, show a high mutation burden, and are wild-type for BRAF and NRAS. Additionally, NF1 mutations characterize certain clinicopathologic melanoma subtypes, specifically desmoplastic melanoma. This review discusses the current knowledge of the NF1 gene and neurofibromin 1 in neurofibromatosis type I and in melanoma.

publication date

  • January 9, 2017

Research

keywords

  • Genetic Predisposition to Disease
  • Melanoma
  • Mutation
  • Neurofibromatosis 1
  • Neurofibromin 1
  • Skin Neoplasms

Identity

PubMed Central ID

  • PMC5413358

Scopus Document Identifier

  • 85011369478

Digital Object Identifier (DOI)

  • 10.1038/labinvest.2016.142

PubMed ID

  • 28067895

Additional Document Info

volume

  • 97

issue

  • 2