title: Prevalence of exon 15 BRAF mutations in primary melanoma of the superficial spreading, nodular, acral, and lentigo maligna subtypes.
abstract: DNA was extracted from 52 thick primary melanomas and mutations sought in exon 15 of the BRAF (v-raf murine sarcoma viral oncogene homolog B1) gene using denaturing high performance liquid chromatograph (dHPLC) fragment analysis, sequencing, and allele-specific PCR. Exon 15 BRAF mutations were found in 13 of 52 (25%) primary melanomas. These comprised five of 17 (29%) superficial spreading melanomas, three of 11 (27%) nodular melanomas, two of 13 (15%) acral lentiginous melanomas, one of one (100%) mucosal melanoma and two of 10 (20%) lentigo maligna melanomas. In common with other groups, our findings show a relative concentration of the exon 15 BRAF mutation in superficial spreading and nodular melanomas, but add further evidence that this mutation not necessary for malignant transformation of the melanocyte.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children and University of Glasgow, UK.
authors.forename: Julie
authors.initials: J
authors.lastname: Lang
authors.forename: Rona M
authors.initials: RM
authors.lastname: MacKie
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D018327:Hutchinson's Melanotic Freckle / Q000235:genetics* / Q000473:pathology; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf