Recurrent inactivating RASA2 mutations in melanoma

Nat Genet. 2015 Dec;47(12):1408-10. doi: 10.1038/ng.3427. Epub 2015 Oct 26.

Abstract

Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas. Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration. RASA2 expression was lost in ≥30% of human melanomas and was associated with reduced patient survival. These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Exome / genetics*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Melanoma / genetics*
  • Melanoma / mortality
  • Melanoma / pathology
  • Mutation / genetics*
  • Prognosis
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / mortality
  • Skin Neoplasms / pathology
  • Survival Rate
  • ras GTPase-Activating Proteins / genetics*

Substances

  • Biomarkers, Tumor
  • RASA2 protein, human
  • ras GTPase-Activating Proteins

Associated data

  • dbSNP/1062266