Absence of BRAFV600E mutation in odontogenic keratocysts

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dc.creatorJosiane Alves França
dc.creatorSílvia Ferreira de Sousa
dc.creatorMarina Gonçalves Diniz
dc.creatorThaís dos Santos Fontes Pereira
dc.creatorTaynara Asevedo Campos de Resende
dc.creatorJean Nunes dos Santos
dc.creatorRicardo Santiago Gomez
dc.creatorCarolina Cavaliéri Gomes
dc.date.accessioned2025-07-02T18:58:25Z
dc.date.accessioned2025-09-08T23:55:08Z
dc.date.available2025-07-02T18:58:25Z
dc.date.issued2018-02
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.description.sponsorshipCAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1111/jop.12671
dc.identifier.issn1600-0714
dc.identifier.urihttps://hdl.handle.net/1843/83292
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of Oral Pathology & Medicine
dc.rightsAcesso Restrito
dc.subjectGenetics
dc.subjectHigh-throughput nucleotide sequencing
dc.subjectOdontogenic cysts
dc.subjectOncogenes
dc.subjectGenes, tumor suppressor
dc.subjectMutation
dc.subjectGenes
dc.subject.otherGenetics
dc.subject.otherNext-generation sequencing
dc.subject.otherOdontogenic keratocysts
dc.subject.otherOncogenes
dc.subject.otherTumor suppressor genes
dc.titleAbsence of BRAFV600E mutation in odontogenic keratocysts
dc.typeArtigo de periódico
local.citation.epage191
local.citation.issue2
local.citation.spage186
local.citation.volume47
local.description.resumoBackground: Mutations in the patched 1 (PTCH1) gene are the main genetic alteration reported in sporadic and nevoid basal cell carcinoma-associated odontogenic keratocyst (OKC). Oncogenic mutations, including BRAFV600E, previously considered exclusive of malignant neoplasms have been reported in odontogenic tumors. Recently, a high frequency of BRAFV600E mutation has been reported in OKC. Because of the considerable recurrence rate of OKC, the identification of druggable genetic mutations can be relevant in the management of extensive lesions. Methods: A set of 28 OKCs was included in this work. Initially, 10 sporadic and eight OKC samples from four NBCCS patients (a pair of lesions from each syndromic patient) were submitted to targeted next-generation sequencing (NGS) of 2800 different mutations in 50 oncogenes and tumor suppressor genes, including BRAF. Ten extra sporadic OKC samples were included to assess BRAFV600E mutation using TaqMan allele-specific qPCR. Results: The following missense mutations occurred in one case each: ATM p.Ser333Phe, SMO p.Gly416Glu, PIK3CA p.Ser326Phe, FBXW7 p.Ser438Phe, JAK2 p.Ser605Phe, PTEN p.Arg173His, ATM p.Cys353Arg, PTEN p.Ser294Arg, MET p.His1112Tyr. None of the 18 samples showed the BRAFV600E (or any other V600) mutation in the NGS. BRAFV600E mutation was detected by qPCR in one of the 10 OKC. Collectively, our results show BRAFV600E mutation in 1 of 28 OKC cases. Conclusion: On the basis of our results, OKCs do not present recurrent hotspot mutations in these 50 genes commonly mutated in cancer. In addition, BRAFV600E does not play a central role in OKC pathogenesis.
local.identifier.orcidhttps://orcid.org/0000-0002-6005-783X
local.identifier.orcidhttps://orcid.org/0000-0001-7820-4749
local.identifier.orcidhttps://orcid.org/0000-0002-4212-1172
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.identifier.orcidhttps://orcid.org/0000-0001-7225-5879
local.identifier.orcidhttps://orcid.org/0000-0002-3983-2889
local.publisher.countryBrasil
local.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICA
local.publisher.departmentICB - DEPARTAMENTO DE MORFOLOGIA
local.publisher.departmentICB - DEPARTAMENTO DE PATOLOGIA
local.publisher.initialsUFMG
local.url.externahttps://onlinelibrary.wiley.com/doi/10.1111/jop.12671

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