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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/62039
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dc.creatorThaís dos Santos Fontes Pereirapt_BR
dc.creatorLigia Pereira Castropt_BR
dc.creatorCarlos Frederico Martins Menckpt_BR
dc.creatorMaria Helena Thomaz Maiapt_BR
dc.creatorLucas Lacerda de Souzapt_BR
dc.creatorFelipe Paiva Fonsecapt_BR
dc.creatorHelder Antônio Rebelo Pontespt_BR
dc.creatorFlavia Sirotheau Correa Pontespt_BR
dc.creatorRicardo Santiago Gomezpt_BR
dc.date.accessioned2023-12-15T19:40:32Z-
dc.date.available2023-12-15T19:40:32Z-
dc.date.issued2021-09-
dc.citation.volume132pt_BR
dc.citation.spage4601pt_BR
dc.identifier.doihttps://doi.org/10.1016/j.oooo.2021.03.013pt_BR
dc.identifier.issn22124403pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/62039-
dc.description.resumoXeroderma pigmentosum (XP) is a rare inherited disease caused by deficiencies in DNA damage repair, which mainly results from the failure of nucleotide excision repair or defects in translesion DNA synthesis. The development of multiple malignancies is one of the most prominent features of this condition, which is clinically characterized by the occurrence of hyperpigmentation and lesions associated with sunlight exposure. Lip squamous cell carcinoma in patients with XP has rarely been reported, and information regarding the genetic analysis of these patients is limited. In this report, a case of a 20-year-old patient who developed squamous cell carcinoma in the lower lip is described. Although the tumor was surgically excised, the patient presented with recurrence a few months later. Targeted sequencing using a customized panel of DNA repair genes revealed a mutation in POLH, the gene encoding DNA polymerase eta. Therefore, molecular characterization is important to further improve the understanding of possible phenotype-genotype correlations and mechanisms involved in the pathogenesis of XP.pt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofOral surgery oral medicine oral pathology oral radiologypt_BR
dc.rightsAcesso Restritopt_BR
dc.subjectcarcinoma de células escamosas de bocapt_BR
dc.subjectBIOLOGIA MOLECULARpt_BR
dc.subjectacesso restrito fao clínica busca dia 20 do 11 ano 2023 Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of polh assunto Xeroderma Pigmentosumpt_BR
dc.subjecttítulo periódico: Oral surgery oral medicine oral pathology oral radiologypt_BR
dc.subject.otherXeroderma pigmentosumpt_BR
dc.subject.otherDNApt_BR
dc.subject.otherCarcinoma, squamous cellpt_BR
dc.subject.otherNucleotidespt_BR
dc.subject.otherGenespt_BR
dc.subject.otherLippt_BR
dc.subject.otherNeoplasmspt_BR
dc.titleXeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLHpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.sciencedirect.com/science/article/pii/S2212440321001632?via%3Dihubpt_BR
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