Absence of TERT promoter mutations in colorectal precursor lesions and cancer
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/58130 |
Resumo: | Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We conclude that TERT mutations are not a driving factor in colorectal carcinogenesis. |
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Absence of TERT promoter mutations in colorectal precursor lesions and cancerColorectal carcinomaTERT promoter mutationsPrecursor lesionsCiências Médicas::Medicina BásicaScience & TechnologyHotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We conclude that TERT mutations are not a driving factor in colorectal carcinogenesis.This study was financially partially supported by Barretos Cancer Hospital Internal Research Funds (PAIP) to participating authorsinfo:eu-repo/semantics/publishedVersionSociedade Brasileira de GenéticaUniversidade do MinhoCruvinel-Carloni, AdrianaYamane, LetíciaScapulatempo-Neto, CristovamGuimarães, DeniseReis, R. M.20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/58130engCruvinel-Carloni, A., Yamane, L., Scapulatempo-Neto, C., Guimarães, D., & Reis, R. M. (2018). Absence of TERT promoter mutations in colorectal precursor lesions and cancer. Genetics and molecular biology, 41(1), 82-841415-47571678-468510.1590/1678-4685-GMB-2017-0133http://www.scielo.br/scielo.php?pid=S1415-47572018000100082&script=sci_arttextinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:48:26Zoai:repositorium.sdum.uminho.pt:1822/58130Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:46:41.230543Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
title |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
spellingShingle |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer Cruvinel-Carloni, Adriana Colorectal carcinoma TERT promoter mutations Precursor lesions Ciências Médicas::Medicina Básica Science & Technology |
title_short |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
title_full |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
title_fullStr |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
title_full_unstemmed |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
title_sort |
Absence of TERT promoter mutations in colorectal precursor lesions and cancer |
author |
Cruvinel-Carloni, Adriana |
author_facet |
Cruvinel-Carloni, Adriana Yamane, Letícia Scapulatempo-Neto, Cristovam Guimarães, Denise Reis, R. M. |
author_role |
author |
author2 |
Yamane, Letícia Scapulatempo-Neto, Cristovam Guimarães, Denise Reis, R. M. |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Cruvinel-Carloni, Adriana Yamane, Letícia Scapulatempo-Neto, Cristovam Guimarães, Denise Reis, R. M. |
dc.subject.por.fl_str_mv |
Colorectal carcinoma TERT promoter mutations Precursor lesions Ciências Médicas::Medicina Básica Science & Technology |
topic |
Colorectal carcinoma TERT promoter mutations Precursor lesions Ciências Médicas::Medicina Básica Science & Technology |
description |
Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We conclude that TERT mutations are not a driving factor in colorectal carcinogenesis. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018 2018-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/1822/58130 |
url |
http://hdl.handle.net/1822/58130 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Cruvinel-Carloni, A., Yamane, L., Scapulatempo-Neto, C., Guimarães, D., & Reis, R. M. (2018). Absence of TERT promoter mutations in colorectal precursor lesions and cancer. Genetics and molecular biology, 41(1), 82-84 1415-4757 1678-4685 10.1590/1678-4685-GMB-2017-0133 http://www.scielo.br/scielo.php?pid=S1415-47572018000100082&script=sci_arttext |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799133037220331520 |