TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2010 |
| Outros Autores: | , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/37759 |
Resumo: | Kenya Balbi El-Jaick. Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta a informação no documento. |
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Rossini, AnaSimão, Tatiana de AlmeidaMarques, Cynthia B.Soares-Lima, Sheila C.Herbster, SuellenRapozo, Davy Carlos M.Andreollo, Nelson A.Ferreira, Maria A.El-Jaick, Kenya BalbiTeixeira, RobertoGuimarães, Denise P.Albano, Rodolpho MattosPinto, Luis Felipe Ribeiro2019-12-10T14:33:01Z2019-12-10T14:33:01Z2010ROSSINI, Ana et al. TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil. Mutation Research: Genetic Toxicology and Environmental Mutagenesis, v. 696, p. 10-15, 2010.1383-5718https://www.arca.fiocruz.br/handle/icict/3775910.1016/j.mrgentox.2009.11.005Kenya Balbi El-Jaick. Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta a informação no documento.2020-12-10Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Serviço de Pesquisa Clínica. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Cirurgia e Gastrocentro. Campinas, SP, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Serviço de Endoscopia Digestiva. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Serviço de Endoscopia Digestiva. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Coordenação de Pesquisa. Serviço de Pesquisa Clínica. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Coordenação de Pesquisa. Serviço de Endoscopia Digestiva. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil.Universidade do Estado do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Bioquímica. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Coordenação de Pesquisa. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Esophageal cancer (EC) is among the 10 most common and fatal malignacies in the world, presenting a marked geographic variation in incidence rates between and within different countries. The TP53 tumor suppressor gene is highly mutated in esophageal tumors and its mutation pattern can offer clues to the etiopathology of the tumor. As Brazil presents one of the highest incidence areas in the West, a deeper knowledge of the molecular mechanisms related to EC development in the Brazilian population is needed. We analyzed the mutation profile of 110 esophageal squamous cell carcinomas (ESCC) of patients from Southeastern Brazil (Rio de Janeiro and São Paulo) and collected data regarding alcohol intake and tobacco smoking. We detected 41 mutations in tumor samples from 38 patients. There was no association between mutation frequency and tobacco smoking or alcohol drinking. The most frequently mutated codons were 179, 214, 220 and 248. Codons 179, 220 and 248 are hot-spots for ESCC, but codon 214 presents only 0.7% of the mutations registered in the IARC database. The mutation profile revealed a high percentage of mutations at A:T base pairs (34.1%) followed by deletions (17.1%). We concluded that the mutationprofile detected in this study is different from that of patients from Southern Brazil but very similar tothat previously seen in French patients, being characterized by a high frequency of mutations at A:T basepairs, which may be associated with acetaldehyde, the metabolic product of ethanol.engElsevierTP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleTP53Squamous cell carcinomaMutationsEsophagusBrazilinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txttext/plain1748https://www.arca.fiocruz.br/bitstream/icict/37759/1/license.txt8a4605be74aa9ea9d79846c1fba20a33MD51ORIGINALve_Rossini_Ana_etal_INI_2010.pdfve_Rossini_Ana_etal_INI_2010.pdfapplication/pdf263099https://www.arca.fiocruz.br/bitstream/icict/37759/2/ve_Rossini_Ana_etal_INI_2010.pdffc5ffc45831ef9cab8e1160e124612c8MD52TEXTve_Rossini_Ana_etal_INI_2010.pdf.txtve_Rossini_Ana_etal_INI_2010.pdf.txtExtracted texttext/plain35507https://www.arca.fiocruz.br/bitstream/icict/37759/3/ve_Rossini_Ana_etal_INI_2010.pdf.txtfbaad836c93060d6c8403cf076549d75MD53icict/377592021-03-24 16:32:40.465oai:www.arca.fiocruz.br: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Repositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352021-03-24T19:32:40Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.pt_BR.fl_str_mv |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| title |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| spellingShingle |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil Rossini, Ana TP53 Squamous cell carcinoma Mutations Esophagus Brazil |
| title_short |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| title_full |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| title_fullStr |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| title_full_unstemmed |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| title_sort |
TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil |
| author |
Rossini, Ana |
| author_facet |
Rossini, Ana Simão, Tatiana de Almeida Marques, Cynthia B. Soares-Lima, Sheila C. Herbster, Suellen Rapozo, Davy Carlos M. Andreollo, Nelson A. Ferreira, Maria A. El-Jaick, Kenya Balbi Teixeira, Roberto Guimarães, Denise P. Albano, Rodolpho Mattos Pinto, Luis Felipe Ribeiro |
| author_role |
author |
| author2 |
Simão, Tatiana de Almeida Marques, Cynthia B. Soares-Lima, Sheila C. Herbster, Suellen Rapozo, Davy Carlos M. Andreollo, Nelson A. Ferreira, Maria A. El-Jaick, Kenya Balbi Teixeira, Roberto Guimarães, Denise P. Albano, Rodolpho Mattos Pinto, Luis Felipe Ribeiro |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Rossini, Ana Simão, Tatiana de Almeida Marques, Cynthia B. Soares-Lima, Sheila C. Herbster, Suellen Rapozo, Davy Carlos M. Andreollo, Nelson A. Ferreira, Maria A. El-Jaick, Kenya Balbi Teixeira, Roberto Guimarães, Denise P. Albano, Rodolpho Mattos Pinto, Luis Felipe Ribeiro |
| dc.subject.en.pt_BR.fl_str_mv |
TP53 Squamous cell carcinoma Mutations Esophagus Brazil |
| topic |
TP53 Squamous cell carcinoma Mutations Esophagus Brazil |
| description |
Kenya Balbi El-Jaick. Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta a informação no documento. |
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2010 |
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2010 |
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2019-12-10T14:33:01Z |
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ROSSINI, Ana et al. TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil. Mutation Research: Genetic Toxicology and Environmental Mutagenesis, v. 696, p. 10-15, 2010. |
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10.1016/j.mrgentox.2009.11.005 |
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ROSSINI, Ana et al. TP53 mutation profile of esophageal squamous cell carcinomas of patients from Southeastern Brazil. Mutation Research: Genetic Toxicology and Environmental Mutagenesis, v. 696, p. 10-15, 2010. 1383-5718 10.1016/j.mrgentox.2009.11.005 |
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