Gene Mutations and Polymorphisms of TP53 and FHIT in Chronic Esophagitis and Esophageal Carcinoma

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dc.contributor.authorFedossi Silveira, Aparecida Perpetuo [UNESP]
dc.contributor.authorManoel-Caetano, Fernanda da Silva [UNESP]
dc.contributor.authorAoki, Sergio [UNESP]
dc.contributor.authorTomonari Yamasaki, Lilian Hiromi [UNESP]
dc.contributor.authorRahal, Paula [UNESP]
dc.contributor.authorSilva, Ana Elizabete [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T14:00:57Z
dc.date.available2014-05-20T14:00:57Z
dc.date.issued2011-05-01
dc.description.abstractAim: The aim of this study was to investigate genetic changes of the TP53 (tumor protein p53) and FHIT (fragile histidine triad) genes in precursor lesion such as chronic esophagitis (CE) and in esophageal squamous cell carcinoma (ESCC). Materials and Methods: PCR-Single Strand Conformation Polymorphism (SSCP) analysis and DNA sequencing in 30 CE and 10 ESCC specimens were performed. Results: DNA sequencing indicated two novel mutations in the TP53 exons 5 (codon 147) and 6 (codon 197) in 219 SSCP positive cases of ESCC, but no mutation was found in the CE. The SIFT (Sorting Intolerant From Tolerant) web-based program showed that missense variant at codon 197 of TP53 could affect the protein function. Additionally, polymorphisms of the TP53 exon 4 (codon 36 and 72) and of the FHIT exon 7 (codon 88) were observed in 4/11(36%) cases of CE and 619 (67%) SSCP positive cases of ESCC after DNA sequencing. Conclusion: TP53 gene mutations are not common events in CE, but are frequent in ESCC, and as polymorphisms of TP53 and FHIT may confer a greater risk for the development of esophageal carcinoma, further studies are required.en
dc.description.affiliationSão Paulo State Univ, Dept Biol, UNESP, BR-15054000 Sao Jose do Rio Preto, SP, Brazil
dc.description.affiliationUnespSão Paulo State Univ, Dept Biol, UNESP, BR-15054000 Sao Jose do Rio Preto, SP, Brazil
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent1685-1690
dc.identifier.citationAnticancer Research. Athens: Int Inst Anticancer Research, v. 31, n. 5, p. 1685-1690, 2011.
dc.identifier.issn0250-7005
dc.identifier.lattes7991082362671212
dc.identifier.orcid0000-0001-5693-6148
dc.identifier.urihttp://hdl.handle.net/11449/21533
dc.identifier.wosWOS:000291235300024
dc.language.isoeng
dc.publisherInt Inst Anticancer Research
dc.relation.ispartofAnticancer Research
dc.relation.ispartofjcr1.865
dc.relation.ispartofsjr0,717
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectMutationsen
dc.subjectPolymorphismen
dc.subjectTP53en
dc.subjectFHITen
dc.subjectChronic esophagitisen
dc.subjectesophageal carcinomaen
dc.titleGene Mutations and Polymorphisms of TP53 and FHIT in Chronic Esophagitis and Esophageal Carcinomaen
dc.typeArtigo
dcterms.rightsHolderInt Inst Anticancer Research
unesp.author.lattes7991082362671212[5]
unesp.author.lattes2503906319038306[6]
unesp.author.orcid0000-0001-5693-6148[5]
unesp.author.orcid0000-0003-1491-8878[6]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt

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