{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T18:50:31Z","timestamp":1791312631746,"version":"4.3.1"},"reference-count":20,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2004,4]]},"abstract":"\n Background:<\/jats:bold> Mutations in BRAF<\/jats:italic> have recently been identified in a significant percentage of primary and metastatic cutaneous malignant melanomas. As ultraviolet (UV) exposure may play a role in the development of cutaneous melanoma lesions with BRAF<\/jats:italic> mutations, BRAF<\/jats:italic> mutation frequency in melanomas arising in sites protected from sun exposure may be lower than those from sun-exposed areas. Thus, we determined the BRAF<\/jats:italic> mutation frequency in a panel of 13 mucosal melanomas and compared those data with data from all currently published series of cutaneous melanomas.<\/jats:p>\n \n Methods:<\/jats:bold>\n BRAF<\/jats:italic> exon 15 DNA from 13 archival primary mucosal melanomas (eight vulvar, four anorectal, and one laryngeal) was sequenced using intron-based primers. As archival DNA occasionally produces poor-quality template, results were confirmed with a TspRI restriction fragment length polymorphism (RFLP) that distinguishes wild-type BRAF<\/jats:italic> from the common mutant form V599E. A binomial test was used to compare the mutation frequency in the mucosal melanomas with the published mutation frequency in cutaneous melanomas.<\/jats:p>\n \n Results:<\/jats:bold> None of the 13 mucosal melanomas in this series had an exon 15 BRAF<\/jats:italic> mutation, as compared to 54\/165 (33%) primary cutaneous melanomas with BRAF<\/jats:italic> mutations in a compilation of all current published studies (p\u200a=\u200a0.006).<\/jats:p>\n \n Discussion:<\/jats:bold> These data suggest that UV exposure, plays a role in the genesis of BRAF<\/jats:italic> mutations in cutaneous melanoma, despite the absence of the characteristic C>T or CC>TT mutation signature associated with UV exposure, and suggests mechanisms other than pyrimidine dimer formation are important in UV-induced mutagenesis.<\/jats:p>","DOI":"10.1136\/jmg.2003.016667","type":"journal-article","created":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T14:48:20Z","timestamp":1080830900000},"page":"270-272","source":"Crossref","is-referenced-by-count":155,"title":["Absence of BRAF<\/i> mutations in UV-protected mucosal melanomas"],"prefix":"10.1136","volume":"41","author":[{"given":"R H","family":"Edwards","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M R","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C A","family":"Medina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M 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