Absence of TERT promoter mutations in colorectal precursor lesions and cancer

Detalhes bibliográficos
Autor(a) principal: Cruvinel-Carloni, Adriana
Data de Publicação: 2018
Outros Autores: Yamane, Letícia, Scapulatempo-Neto, Cristovam, Guimarães, Denise, Reis, R. M.
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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spelling 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
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection 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
repository.mail.fl_str_mv
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