title: BRAF mutations are detectable in conjunctival but not uveal melanomas.
abstract: Activating mutations in exon 15 of BRAF have been detected in a high proportion of cutaneous melanomas. To determine whether such mutations are a feature of conjunctival or uveal melanomas, we screened DNA from these tumours. Twenty-one conjunctival and 88 uveal tumours were included in the study. Mutation analysis of BRAF exons 11 and 15 was undertaken using a combination of conformationally sensitive gel electrophoresis and direct sequencing. Mutations in exon 15 were detected in three of the conjunctival tumours (two V599E and one E585 K). None of the uveal tumours possessed a BRAF mutation in either exon 15 or 11. We conclude that uveal melanomas arise independently of oncogenic BRAF mutations, but the development of a proportion of conjunctival tumours involves mutation of this gene.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK.
authors.forename: Hayley E
authors.initials: HE
authors.lastname: Spendlove
authors.forename: Bertil E
authors.initials: BE
authors.lastname: Damato
authors.forename: Jane
authors.initials: J
authors.lastname: Humphreys
authors.forename: Karen T
authors.initials: KT
authors.lastname: Barker
authors.forename: Paul S
authors.initials: PS
authors.lastname: Hiscott
authors.forename: Richard S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003230:Conjunctival Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis / Q000302:isolation & purification; D015622:Epithelioid Cells / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018331:Nevus, Spindle Cell / Q000378:metabolism / Q000473:pathology; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics; D014407:Tumor Cells, Cultured; D014604:Uveal Neoplasms / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf