title: BRAF and GNAQ mutations in melanocytic tumors of the oral cavity.
abstract: OBJECTIVE
  The genetic factors participating in oral melanoma evolution have not been studied extensively. We aimed to analyze the prevalence of BRAF and GNAQ mutations in a series of oral melanocytic tumors, nevi, and melanomas.
  
  
  METHODS
  The study group consisted of 4 melanomas and 10 nevi (6 intramucosal, 4 blue nevi). DNA was extracted from paraffin-embedded tissue sections, and mutations in GNAQ and BRAF were analyzed with the use of mass spectrometery.
  
  
  RESULTS
  V600E point mutation was identified in the BRAF gene in 3 intramucosal nevi and in 2 melanomas. Only 1 blue nevus harbored the GNAQ209 mutation. None of the BRAF-positive samples harbored GNAQ mutations.
  
  
  CONCLUSIONS
  The finding of BRAF mutations in oral benign and malignant melanocytic lesions points to a potential initiating role of BRAF in malignant transformation, which may have important therapeutic implications as those with BRAF mutations may benefit from specific treatment using RAF inhibitors.
authors.affiliation: Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Yoram
authors.initials: Y
authors.lastname: Cohen
authors.forename: Nitza
authors.initials: N
authors.lastname: Goldenberg-Cohen
authors.forename: Sharon
authors.initials: S
authors.lastname: Akrish
authors.forename: Tali
authors.initials: T
authors.lastname: Shani
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Olga
authors.initials: O
authors.lastname: Dratviman-Storobinsky
authors.forename: Ilana
authors.initials: I
authors.lastname: Kaplan
authors.forename: Iris
authors.initials: I
authors.lastname: Barshack
authors.forename: Abraham
authors.initials: A
authors.lastname: Hirshberg
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D043802:GTP-Binding Protein alpha Subunits, Gq-G11; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009062:Mouth Neoplasms / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: D017931:DNA Primers; C554061:GNAQ protein, human; D044385:GTP-Binding Protein alpha Subunits; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D043802:GTP-Binding Protein alpha Subunits, Gq-G11