Absence of TERT promoter mutations in colorectal precursor lesions and cancer

Absence of TERT promoter mutations in colorectal precursor lesions and cancer

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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Main Authors: Cruvinel-Carloni,Adriana, Yamane,Letícia, Scapulatempo-Neto,Cristovam, Guimarães,Denise, Reis,Rui Manuel
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2018
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082
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spelling oai:scielo:S1415-475720180001000822018-04-09Absence of TERT promoter mutations in colorectal precursor lesions and cancerCruvinel-Carloni,AdrianaYamane,LetíciaScapulatempo-Neto,CristovamGuimarães,DeniseReis,Rui Manuel colorectal carcinoma TERT promoter mutations precursor lesions 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.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.41 n.1 20182018-03-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082en10.1590/1678-4685-gmb-2017-0133
institution SCIELO
collection OJS
country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Cruvinel-Carloni,Adriana
Yamane,Letícia
Scapulatempo-Neto,Cristovam
Guimarães,Denise
Reis,Rui Manuel
spellingShingle Cruvinel-Carloni,Adriana
Yamane,Letícia
Scapulatempo-Neto,Cristovam
Guimarães,Denise
Reis,Rui Manuel
Absence of TERT promoter mutations in colorectal precursor lesions and cancer
author_facet Cruvinel-Carloni,Adriana
Yamane,Letícia
Scapulatempo-Neto,Cristovam
Guimarães,Denise
Reis,Rui Manuel
author_sort Cruvinel-Carloni,Adriana
title Absence of TERT promoter mutations in colorectal precursor lesions and cancer
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
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.
publisher Sociedade Brasileira de Genética
publishDate 2018
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082
work_keys_str_mv AT cruvinelcarloniadriana absenceoftertpromotermutationsincolorectalprecursorlesionsandcancer
AT yamaneleticia absenceoftertpromotermutationsincolorectalprecursorlesionsandcancer
AT scapulatemponetocristovam absenceoftertpromotermutationsincolorectalprecursorlesionsandcancer
AT guimaraesdenise absenceoftertpromotermutationsincolorectalprecursorlesionsandcancer
AT reisruimanuel absenceoftertpromotermutationsincolorectalprecursorlesionsandcancer
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