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Absence of BRAF mutations in UV-protected mucosal melanomas

Background: Mutations in BRAF 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 mutations, BRAF mutation frequency in melanomas ari... Full description

Journal Title: Journal of medical genetics 2004, Vol.41 (4), p.270-272
Main Author: Edwards, R H
Other Authors: Ward, M R , Wu, H , Medina, C A , Brose, M S , Volpe, P , Nussen-Lee, S , Haupt, H M , Martin, A M , Herlyn, M , Lessin, S R , Weber, B L
Format: Electronic Article Electronic Article
Language: English
Subjects:
CPD
Quelle: Alma/SFX Local Collection
Publisher: London: BMJ Publishing Group Ltd
ID: ISSN: 0022-2593
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title: Absence of BRAF mutations in UV-protected mucosal melanomas
format: Article
creator:
  • Edwards, R H
  • Ward, M R
  • Wu, H
  • Medina, C A
  • Brose, M S
  • Volpe, P
  • Nussen-Lee, S
  • Haupt, H M
  • Martin, A M
  • Herlyn, M
  • Lessin, S R
  • Weber, B L
subjects:
  • Biological and medical sciences
  • BRAF
  • Cancer
  • connective tissue diseases
  • CPD
  • cyclobutane pyrimidine dimers
  • Dermatology
  • digestive system diseases
  • DNA Mutational Analysis
  • endocrine system diseases
  • Environmental Exposure
  • Gene Frequency
  • Genes
  • Health aspects
  • Humans
  • Kinases
  • Medical sciences
  • melanoma
  • Melanoma - genetics
  • Mucous Membrane
  • Mutation
  • neoplasms
  • Oncology, Experimental
  • Polymorphism, Restriction Fragment Length
  • Proto-Oncogene Proteins B-raf
  • Proto-Oncogene Proteins c-raf - genetics
  • restriction fragment length polymorphism
  • RFLP
  • Risk factors
  • Short Report
  • skin
  • Skin cancer
  • Skin Neoplasms - etiology
  • Skin Neoplasms - genetics
  • Tumors of the skin and soft tissue. Premalignant lesions
  • ultraviolet
  • ultraviolet exposure
  • Ultraviolet radiation
  • Ultraviolet Rays
ispartof: Journal of medical genetics, 2004, Vol.41 (4), p.270-272
description: Background: Mutations in BRAF 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 mutations, BRAF 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 mutation frequency in a panel of 13 mucosal melanomas and compared those data with data from all currently published series of cutaneous melanomas. Methods:BRAF 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 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. Results: None of the 13 mucosal melanomas in this series had an exon 15 BRAF mutation, as compared to 54/165 (33%) primary cutaneous melanomas with BRAF mutations in a compilation of all current published studies (p = 0.006). Discussion: These data suggest that UV exposure, plays a role in the genesis of BRAF 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.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0022-2593
fulltext: fulltext
issn:
  • 0022-2593
  • 1468-6244
  • 1468-6244
url: Link


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titleAbsence of BRAF mutations in UV-protected mucosal melanomas
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creatorEdwards, R H ; Ward, M R ; Wu, H ; Medina, C A ; Brose, M S ; Volpe, P ; Nussen-Lee, S ; Haupt, H M ; Martin, A M ; Herlyn, M ; Lessin, S R ; Weber, B L
creatorcontribEdwards, R H ; Ward, M R ; Wu, H ; Medina, C A ; Brose, M S ; Volpe, P ; Nussen-Lee, S ; Haupt, H M ; Martin, A M ; Herlyn, M ; Lessin, S R ; Weber, B L
descriptionBackground: Mutations in BRAF 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 mutations, BRAF 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 mutation frequency in a panel of 13 mucosal melanomas and compared those data with data from all currently published series of cutaneous melanomas. Methods:BRAF 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 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. Results: None of the 13 mucosal melanomas in this series had an exon 15 BRAF mutation, as compared to 54/165 (33%) primary cutaneous melanomas with BRAF mutations in a compilation of all current published studies (p = 0.006). Discussion: These data suggest that UV exposure, plays a role in the genesis of BRAF 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.
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subjectBiological and medical sciences ; BRAF ; Cancer ; connective tissue diseases ; CPD ; cyclobutane pyrimidine dimers ; Dermatology ; digestive system diseases ; DNA Mutational Analysis ; endocrine system diseases ; Environmental Exposure ; Gene Frequency ; Genes ; Health aspects ; Humans ; Kinases ; Medical sciences ; melanoma ; Melanoma - genetics ; Mucous Membrane ; Mutation ; neoplasms ; Oncology, Experimental ; Polymorphism, Restriction Fragment Length ; Proto-Oncogene Proteins B-raf ; Proto-Oncogene Proteins c-raf - genetics ; restriction fragment length polymorphism ; RFLP ; Risk factors ; Short Report ; skin ; Skin cancer ; Skin Neoplasms - etiology ; Skin Neoplasms - genetics ; Tumors of the skin and soft tissue. Premalignant lesions ; ultraviolet ; ultraviolet exposure ; Ultraviolet radiation ; Ultraviolet Rays
ispartofJournal of medical genetics, 2004, Vol.41 (4), p.270-272
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8Martin, A M
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descriptionBackground: Mutations in BRAF 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 mutations, BRAF 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 mutation frequency in a panel of 13 mucosal melanomas and compared those data with data from all currently published series of cutaneous melanomas. Methods:BRAF 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 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. Results: None of the 13 mucosal melanomas in this series had an exon 15 BRAF mutation, as compared to 54/165 (33%) primary cutaneous melanomas with BRAF mutations in a compilation of all current published studies (p = 0.006). Discussion: These data suggest that UV exposure, plays a role in the genesis of BRAF 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.
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6Dermatology
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8DNA Mutational Analysis
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19Mucous Membrane
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28Risk factors
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32Skin Neoplasms - etiology
33Skin Neoplasms - genetics
34Tumors of the skin and soft tissue. Premalignant lesions
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37Ultraviolet radiation
38Ultraviolet Rays
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0Edwards, R H
1Ward, M R
2Wu, H
3Medina, C A
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atitleAbsence of BRAF mutations in UV-protected mucosal melanomas
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volume41
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eissn1468-6244
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notesCorrespondence to:
 B L Weber
 MD, Abramson Family Cancer Research Institute, University of Pennsylvania Medical Center, 514 BRB II/III, 421 Curie Boulevard, Philadelphia, PA 19104, USA; weberb@mail.med.upenn.edu
abstractBackground: Mutations in BRAF 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 mutations, BRAF 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 mutation frequency in a panel of 13 mucosal melanomas and compared those data with data from all currently published series of cutaneous melanomas. Methods:BRAF 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 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. Results: None of the 13 mucosal melanomas in this series had an exon 15 BRAF mutation, as compared to 54/165 (33%) primary cutaneous melanomas with BRAF mutations in a compilation of all current published studies (p = 0.006). Discussion: These data suggest that UV exposure, plays a role in the genesis of BRAF 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.
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