Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma

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dc.contributor.authorde Carvalho, Ana Carolina
dc.contributor.authorPerdomo Lara, Sandra Janneth
dc.contributor.authorDos Santos, Wellington
dc.contributor.authorCarvalho Fernandes, Gabriela
dc.contributor.authorMachado de Jesus, Lais
dc.contributor.authorSantos Carvalho, Raiany
dc.contributor.authorScapulatempo-Neto, Cristovam
dc.contributor.authorCaravina de Almeida, Gisele
dc.contributor.authorPereira Sorroche, Bruna
dc.contributor.authorRebolho Batista Arantes, Lidia Maria
dc.contributor.authorMelendez, Matias Eliseo
dc.contributor.authorDe Marchi, Pedro
dc.contributor.authorHayes, Neil
dc.contributor.authorReis, Rui Manuel
dc.contributor.authorLopes Carvalho, André
dc.contributor.orcidPerdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.date.accessioned2021-02-05T16:56:28Z
dc.date.available2021-02-05T16:56:28Z
dc.date.issued2020
dc.description.abstractenglishTobacco- or human papillomavirus- driven oropharyngeal squamous cell carcinomas (OpSCC) represent distinct clinical, biological and epidemiological entities. The aim of this study was to identify genetic variants based on somatic alterations in OpSCC samples from an admixed population, and to test for association with clinical features. The entire coding region of 15 OpSCC driver genes was sequenced by next-generation sequencing in 51 OpSCC FFPE samples. Thirty-five percent of the patients (18/51) were HPV-positive and current or past tobacco consumption was reported in 86.3% (44/51). The mutation profile identified an average of 2.67 variants per sample. Sixty-three percent of patients (32/51; 62.7%) were mutated for at least one of the genes tested and TP53 was the most frequently mutated gene. The presence of mutation in NOTCH1 and PTEN, significantly decreased patient's recurrence-free survival, but only NOTCH1 mutation remained significant after stepwise selection, with a risk of recurrence of 4.5 (HR 95% CI = 1.11-14.57; Cox Regression p = 0.034). These results show that Brazilian OpSCC patients exhibit a similar clinical and genetic profile in comparison to other populations. Molecular characterization is a promising tool for the definition of clinical subgroups, aiding in a more precise tailoring of treatment and prognostication.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/s41598-020-66741-z
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn2045-2322
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlhttps://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/5257
dc.language.isoeng
dc.publisherNaturespa
dc.publisher.journalScientific Reportsspa
dc.relation.ispartofseriesScientific Reports, 2045-2322, Vol. 10, No. 1, 2020, p. 9970spa
dc.relation.urihttps://www.nature.com/articles/s41598-020-66741-z
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.creativecommons2020-06-19
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.titleImpact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinomaspa
dc.title.translatedImpact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinomaspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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