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. 2018 Jan-Mar;41(1):82-84.
doi: 10.1590/1678-4685-GMB-2017-0133. Epub 2018 Feb 19.

Absence of TERT promoter mutations in colorectal precursor lesions and cancer

Adriana Cruvinel-Carloni  1 , Letícia Yamane  1 , Cristovam Scapulatempo-Neto  1   2 , Denise Guimarães  1   3 , Rui Manuel Reis  1   4   5
Affiliations

Absence of TERT promoter mutations in colorectal precursor lesions and cancer

Adriana Cruvinel-Carloni et al. Genet Mol Biol. 2018 Jan-Mar.

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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Figures

Figura 1
Figura 1. Electropherogram of TERT showing the wild-type sequence for both hotspot mutation regions. The arrows indicate the hotspot mutation regions (-124bp and -146bp).
See this image and copyright information in PMC

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