Interrogation of cancer hotspot mutations in calcifying cystic odontogenic tumor

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dc.creatorSílvia Ferreira de Sousa
dc.creatorRennan Garcias Moreira
dc.creatorRicardo Santiago Gomez
dc.creatorCarolina Cavaliéri Gomes
dc.date.accessioned2025-06-11T20:49:35Z
dc.date.accessioned2025-09-09T00:49:50Z
dc.date.available2025-06-11T20:49:35Z
dc.date.issued2017-08
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1016/j.oooo.2017.05.393
dc.identifier.issn2212-4411
dc.identifier.sici2
dc.identifier.urihttps://hdl.handle.net/1843/82900
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofOral surgery, Oral medicine, Oral Pathology and Oral Radiology
dc.rightsAcesso Restrito
dc.subjectMutation
dc.subjectGenes
dc.subjectOdontogenic tumors
dc.subjectOdontogenic cyst, calcifying
dc.subjectCarcinogenesis
dc.titleInterrogation of cancer hotspot mutations in calcifying cystic odontogenic tumor
dc.typeArtigo de periódico
local.citation.epagee139
local.citation.issue2
local.citation.spagee139
local.citation.volume124
local.description.resumoTo simultaneously interrogate in calcifying cystic odonto genic tumor (CCOT) about 2,800 COSMIC mutations in a panel of important oncogenes and tumor suppressor genes. Study Design: 3 samples of CCOT were analyzed. It was used the Ion AmpliSeq Cancer Hotspot Panel v2 to interrogate mutations at 50 tumor suppressor genes and oncogenes by target next generation sequencing on the Ion Personal Genome Machine (PGM) System. Reads were aligned to genome (hg19), variants were called using Ion Reporter Software and false variants were excluded after assessment at the Integrative Genomics Viewer (IGV). Results: The only pathogenic mutation detected in 2 out of 3 CCOT was in b-Catenin gene, CTNNB1 c.98C>T. This mutation leads to substitution from serine to phenylalanine at codon 33 of b-Catenin, resulting in its stabilization and oncogenic activation. No other pathogenic mutation interrogated was detected, including the recurrent mutations BRAFV600E, recently described in ameloblastomas or KRASG12V, recently described in adenomatoid odontogenic tumors. Conclusion: b-Catenin gene mutation persists as the pivotal alteration reported in CCOTs. This study gives further support to the concept that odontogenic tumors do not share a common genetic event and each tumor type shows a specific molecular profile.
local.identifier.orcidhttps://orcid.org/0000-0001-7820-4749
local.identifier.orcidhttps://orcid.org/0000-0003-2775-1333
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.publisher.countryBrasil
local.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICA
local.publisher.departmentICB - DEPARTAMENTO DE PATOLOGIA
local.publisher.initialsUFMG
local.url.externahttps://www.oooojournal.net/article/S2212-4403(17)30692-2/fulltext

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