Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The tumors were sequenced for mutations in the TERT promoter and 22 additional cancer-related genes, interestingly; one patient was shown to carry a deleterious intronic variant in PTEN, a tumor suppressor gene coupled to thyroid tumorigenesis and Cowden syndrome. 31699114

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The majority of such HCC cases contain integrated HBV, and some hotspot integrations, such as those in the telomerase reverse transcriptase gene (TERT) promoter, activate gene expression to drive carcinogenesis. 30070724

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE TERT promoter mutations (13.1% of R/M cases) were mutually exclusive with both NOTCH1 mutations (q = 3.3 × 10-4) and MYB/MYBL1 fusions (q = 5.6 × 10-3), suggesting discrete, alternative mechanisms of tumorigenesis. 31483290

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. 30523342

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Implications of TERT promoter mutations and telomerase activity in urothelial carcinogenesis. 29599449

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation 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

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE TERT promoter mutations (73%) and chromatin-modifying gene alterations (69%) were highly prevalent across grade and stage, suggesting these events occur early in tumorigenesis. 28583311

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker BEFREE These results support a major role for telomere elongation in HCV-related and non-viral related hepatic carcinogenesis and suggest that TERT promoter mutations could represent a candidate biomarker for the early detection of liver cancer in subjects with HCV infection or with metabolic liver diseases. 28529542

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 PosttranslationalModification BEFREE Induction of telomerase reverse transcriptase (TERT) expression coupled with telomerase activation is essential for cancer development/progression, while aberrant TERT promoter methylation has been linked to TERT induction in oncogenesis. 28754720

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 PosttranslationalModification BEFREE Telomerase reverse transcriptase (TERT) expression is a hallmark in tumorigenesis and upregulated due to mutations and methylation of the human (h)TERT promoter. 26390879

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Although TERT promoter mutations seem to play significant roles in the pathogenesis of TC, the mechanisms by which they contribute to carcinogenesis remain elusive and future work is needed to fully assess the roles, interactions, and impact of these mutations on the pathogenesis, diagnosis, prognosis, and therapeutics of TC. 26902827

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE This review highlights the fundamental and widespread role of TERT promoter mutations in tumorigenesis, including recent progress on their mechanism of transcriptional activation. 26941407

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The C228T mutation of TERT promoter frequently occurs in bladder cancer stem cells and contributes to tumorigenesis of bladder cancer. 26143634

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE In addition, lack of TERT promoter mutations in primary adenocarcinoma of bladder suggests that this entity may have different origin or carcinogenesis from those of UC. 26239299

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker BEFREE TERT promoter is one of most frequent mutational targets in liver cancer, and hepatocellular carcinogenesis is highly associated with the loss of telomere-dependent cellular senescence control. 25574106

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE In order to improve the understanding of the role of TERT promoter mutation in liver tumorigenesis, the mutational status of the TERT promoter was analyzed in 78 hepatocellular carcinomas, 15 hepatocellular adenomas, and 52 intrahepatic cholangiocarciomas. 25267585

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE TERT promoter mutation does not appear to be an early event during oncogenesis, as it was not detected in the contiguous endometriosis associated with ovarian clear cell carcinoma. 24338723

2014