TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE The association between telomerase reverse transcriptase (TERT) promoter mutations and some clinical behaviors in thyroid cancer remains controversial and requires additional investigation. 31655978 2020
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease BEFREE The aim of this study was to search for novel TERT promoter mutations and additional mechanisms of TERT activation in thyroid cancer. 31408918 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease BEFREE We investigated the association between TERT promoter mutations and recurrence in a prospective series of 173 intermediate- to high-risk patients with thyroid cancer. 30648628 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease BEFREE Telomerase reverse transcriptase gene analyses greatly facilitate the clinical assessment of follicular thyroid tumors, and pinpoints cases at risk of future recurrences. 31131695 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease BEFREE LncRNA FOXD2-AS1 Functions as a Competing Endogenous RNA to Regulate TERT Expression by Sponging miR-7-5p in Thyroid Cancer. 31024447 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Recently, telomerase reverse transcriptase (<i>TERT</i>) gene promoter (<i>TERTp</i>) mutations (C228T and C250T) were reported at high frequency in TC cell lines and tumor biopsies. 31549911 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Somatic telomerase reverse transcriptase (TERT) promoter mutations have been recently identified in several types of malignant tumors, including thyroid neoplasia; however, the actual role of TERT mutations in thyroid tumorigenesis is still under debate. 29435002 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Telomerase reverse transcriptase (<i>TERT</i>) promoter mutations have been linked to adverse clinical parameters in thyroid cancer, but <i>TERT</i>-expressing tumours are not always mutated. 29692346 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease BEFREE We investigated the prevalence and clinical impact of mutations of BRAF, NRAS, HRAS, KRAS, EZH1, EIF1AX, and TERT genes by Sanger sequencing in a series of 201 follicular-patterned thyroid tumors including follicular adenoma (n = 40), Hürthle cell adenoma (n = 54), noninvasive follicular thyroid neoplasms with papillary-like nuclear features (n = 50), follicular thyroid carcinoma (n = 40), Hürthle cell carcinoma (n = 10), and poorly differentiated thyroid carcinoma arising in a well-differentiated follicular neoplasm (n = 7), and 120 classic papillary carcinoma. 29723601 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Telomerase reverse transcriptase (TERT) promoter mutations have recently been identified as an important prognostic factor in thyroid cancer. 30102829 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE However, we show for the first time that TERT alterations are associated with familial thyroid tumour progression. 28502101 2017
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Co-regulation of TERT suggests a mechanism by which allelic variants in/near FOXE1 are associated with thyroid cancer risk. 27852061 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE The study explored the association between rs10069690C/T and rs2736100G/T of human telomerase reverse transcriptase (hTERT) gene, and the prognosis of thyroid cancer. 27472887 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Recent reports suggest that mutations in the promoter of the gene encoding telomerase reverse transcriptase (TERT) affect thyroid cancer outcomes. 26969876 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Two mutations (C228T and C250T) in the promoter region of the telomerase reverse transcriptase (TERT) have recently been described in different types of cancer including follicular cell-derived thyroid cancer (TC). 26902827 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Thus, TERT with promoter mutations represents a prominent new oncogene in thyroid cancer and the mutations are promising new diagnostic and prognostic genetic markers for thyroid cancer, which, in combination with BRAF V600E mutation or other genetic markers (e.g. 26733501 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE A telomerase reverse transcriptase (TERT) promoter mutation was identified in thyroid cancer. 26727717 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE This suggests an important role of TERT mutational analysis in the clinical diagnosis and management of thyroid cancer patients. 25951319 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Thus, this study on a large cohort of TC patients from Middle East demonstrates that TERT promoter mutations are relatively common, especially in the non-CPTC, and are associated with more aggressive histopathological features, BRAF(V600E) mutation, and disease persistence/recurrence than the WT TERT. 26354077 2015
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 AlteredExpression disease BEFREE TERT protein was found to be more expressed in neoplastic than in normal tissues, and to display a different cellular localization, suggesting that it could contribute to thyroid cancer progression by mechanisms taking place in the cytoplasm. 25448848 2015
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE Two promoter mutations, chr5:1 295 228C>T and chr5:1 295 250C>T, in the gene for telomerase reverse transcriptase (TERT) have been recently identified in thyroid cancers and shown to be important in thyroid tumor pathogenesis. 25121551 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE No TERT mutation was found in 44 benign thyroid tumors. 24617711 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease CTD_human Systematic analysis of noncoding somatic mutations and gene expression alterations across 14 tumor types. 25383969 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 GeneticVariation disease BEFREE The objectives of the study were: 1) to determine the prevalence of TERT promoter mutations C228T and C250T in different thyroid cancer histological types and cell lines; and 2) to establish the possible association of TERT mutations with mutations of BRAF, RAS, or RET/PTC. 23833040 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 AlteredExpression disease BEFREE A tendency for an inverse correlation between miR-138 and hTERT protein expression was observed in the thyroid cancer cell lines, although this failed to reach significance (r = -0.392, P = 0.148). 18201269 2008