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,Rui Manuel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082
Resumo: Abstract 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 lesionsAbstract 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.Sociedade Brasileira de Genética2018-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082Genetics and Molecular Biology v.41 n.1 2018reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2017-0133info:eu-repo/semantics/openAccessCruvinel-Carloni,AdrianaYamane,LetíciaScapulatempo-Neto,CristovamGuimarães,DeniseReis,Rui Manueleng2018-04-09T00:00:00Zoai:scielo:S1415-47572018000100082Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2018-04-09T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
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
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,Rui Manuel
author_role author
author2 Yamane,Letícia
Scapulatempo-Neto,Cristovam
Guimarães,Denise
Reis,Rui Manuel
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Cruvinel-Carloni,Adriana
Yamane,Letícia
Scapulatempo-Neto,Cristovam
Guimarães,Denise
Reis,Rui Manuel
dc.subject.por.fl_str_mv colorectal carcinoma
TERT promoter mutations
precursor lesions
topic colorectal carcinoma
TERT promoter mutations
precursor lesions
description Abstract 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 2018-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1678-4685-gmb-2017-0133
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
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 Genetics and Molecular Biology v.41 n.1 2018
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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