Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE To determine the mutation status of human telomerase reverse transcriptase gene (TERT) promoter region in hepatocellular carcinoma (HCC) from different geographical regions. 25574106

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Here we identified the frequency of mutations in telomerase reverse transcriptase (TERT) promoter was 34% in non-clear cell HCC (NCCHCC, n = 259) and 26.3% in clear cell HCC (CCHCC, n = 57). 28460432

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE The current study provided the characteristics of genetic aberrations in NAFLD-HCC and suggested that TERT promoter mutations and chromosome 8p loss mainly contribute to NAFLD-related liver carcinogenesis. 27511114

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE K19<sup>+</sup> HCC had TERT promoter mutations less frequently than K19<sup>-</sup> HCC (31% versus 59%; P = 0.022), and lacked alterations in KRAS and IDH1. 31017316

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE In conclusion, we demonstrate a substantial role for the rs2853669 in HCC with TERT promoter mutation, which suggests that the combination of the rs2853669 and the mutation indicate poor prognoses in liver cancer. 26575952

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations were highly frequent in glioblastoma (83.9%), urothelial carcinoma (64.5%), oligodendroglioma (70.0%), medulloblastoma (33.3%) and hepatocellular carcinoma (31.4%). 25843513

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE These data show that TERT promoter mutation is the most frequent genetic alteration in hepatocellular carcinoma known at this time. 25267585

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Here, we investigated the occurrence and implications of genetic alterations in the TERT promoter in hepatitis B viral hepatocellular carcinoma (B viral HCC). 29987895

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE HCC cases associated to factors other than hepatitis viruses are also frequently mutated in TERT promoter (43.6%, 52.6% and 57.7% in USA, Asia and Europe, respectively). 28529542

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE An identical CTNNB1 mutation was identified in the 1996 liver tumor together with a TERT promoter mutation showing that this hepatocellular carcinoma results from the malignant transformation of the initial β-catenin inflammatory adenoma. 27984126

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations were consistently identified in both HCC and CC components, supporting TERT alteration as an early event in CHC evolution. 30690729

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Finally, integrative analysis of HCAs transformed to hepatocellular carcinoma revealed β-catenin mutation as an early alteration and TERT promoter mutations as associated with the last step of the adenoma-carcinoma transition. 24735922

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Atypical hepatocellular neoplasm and hepatocellular carcinoma also demonstrated largely similar genomic profiles, but TERT promoter mutations were restricted to hepatocellular carcinoma (21%) and copy number alterations were more common in hepatocellular carcinoma (64 vs 31%). 31189995

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathway activation in HB development and defines loss of genomic stability and TERT promoter mutations as prominent characteristics of aggressive HB with HCC features. 25135868

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Cyclin-driven HCC display a unique signature of structural rearrangements with hundreds of tandem duplications and templated insertions frequently activating TERT promoter. 30531861

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations were highly related to the step-wise hepatocarcinogenesis because mutations were identified in 6% of LGDNs, 19% of HGDNs, 61% of eHCCs, and 42% of small and progressed HCC. 25123086

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Thirty percent of HCCs harbored TERT promoter mutations and there was a significant difference in rs2736098 and rs2736100 genotypes between wt and mutant TERT promoter-bearing HCC tumors (P = 0.007 and 0.018, respectively). 28416747

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE TERT promoter mutations (10.5%) and broad copy-number aberrations in chromosomes 1 and 8 (3-7%) were identified as trunk gatekeepers in DNs and were maintained in sHCCs. 28843658

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Conclusion: TERT elevation by AR through integrated HBV and point mutation at the TERT promoter region was identified as a mechanism for the male dominance of HBV-related HCCs; telomerase and AR thus may be targets for intervention of HCC. 30070724

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Detection of TERT promoter mutations in those with low levels of AFP may aid diagnosis of HCC with atypical presentation. 27056898

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE In hepatitis B surface antigen (HBs Ag)-positive HCC without TERT promoter mutations, HBV integration into TERT locus was found in 47% patients and was mutually exclusive to TERT promoter mutations. 26553052

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Our results showed aberrant methylation of the UTSS region of the TERT promoter in HCC (mean=15.1) compared with the adjacent normal tissues (mean=6.1, P<0.00001). 25683523

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE These data demonstrated that TERT promoter mutation is a frequent event in HCC; however, telomere length, but not the presence of a TERT promoter mutation, might have potential value as a prognostic indicator of HCC. 28151853

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE We assayed mutations in the TERT promoter region by Sanger sequencing and used next-generation sequencing to analyze the entire coding regions of 7 well-characterized HCC driver genes-based on shared or discordant mutations in these genes, we classified the HCCs in each patient as IM, MC, or indeterminate. 29180252

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE TERT promoter and CTNNB1 mutations were only observed in hepatocellular carcinomas but not in precursor lesions. 27661004

2016