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Use este identificador para citar ou linkar para este item: http://hdl.handle.net/1843/83292
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Campo DCValorIdioma
dc.creatorJosiane Alves Françapt_BR
dc.creatorSílvia Ferreira de Sousapt_BR
dc.creatorMarina Gonçalves Dinizpt_BR
dc.creatorThaís dos Santos Fontes Pereirapt_BR
dc.creatorTaynara Asevedo Campos de Resendept_BR
dc.creatorJean Nunes dos Santospt_BR
dc.creatorRicardo Santiago Gomezpt_BR
dc.creatorCarolina Cavaliéri Gomespt_BR
dc.date.accessioned2025-07-02T18:58:25Z-
dc.date.available2025-07-02T18:58:25Z-
dc.date.issued2018-02-
dc.citation.volume47pt_BR
dc.citation.issue2pt_BR
dc.citation.spage186pt_BR
dc.citation.epage191pt_BR
dc.identifier.doihttps://doi.org/10.1111/jop.12671pt_BR
dc.identifier.issn1600-0714pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/83292-
dc.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.pt_BR
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológicopt_BR
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Geraispt_BR
dc.description.sponsorshipCAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superiorpt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICApt_BR
dc.publisher.departmentICB - DEPARTAMENTO DE MORFOLOGIApt_BR
dc.publisher.departmentICB - DEPARTAMENTO DE PATOLOGIApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofJournal of Oral Pathology & Medicinept_BR
dc.rightsAcesso Restritopt_BR
dc.subjectGeneticspt_BR
dc.subjectNext-generation sequencingpt_BR
dc.subjectOdontogenic keratocystspt_BR
dc.subjectOncogenespt_BR
dc.subjectTumor suppressor genespt_BR
dc.subject.otherGeneticspt_BR
dc.subject.otherHigh-throughput nucleotide sequencingpt_BR
dc.subject.otherOdontogenic cystspt_BR
dc.subject.otherOncogenespt_BR
dc.subject.otherGenes, tumor suppressorpt_BR
dc.subject.otherMutationpt_BR
dc.subject.otherGenespt_BR
dc.titleAbsence of BRAFV600E mutation in odontogenic keratocystspt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://onlinelibrary.wiley.com/doi/10.1111/jop.12671pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-6005-783Xpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-7820-4749pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-4212-1172pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-1580-4995pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-8770-8009pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-7225-5879pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-3983-2889pt_BR
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