Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE TERT positivity as a test for melanoma versus nevus had an accuracy of 87.3% [95% confidence interval (CI), 81.1-92.1], a sensitivity of 77.9% (95% CI, 68.9-85.4), a specificity of 98.6% (95% CI, 95.8-100), a positive predictive value of 98.5% (95% CI, 95.6-100), and a negative predictive value of 78.9% (95% CI, 72.6-85.4). 30211730

2019

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE In this study, we investigated the impact of the subtypes of TERT mutations on disease-free and melanoma-specific survival in 287 patients with stage I/II nonacral melanoma. 30070694

2019

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression BEFREE Leukemia cell lines K-562, its vincristine-resistant derivative K-562-Lucena1 and daunorubicin-resistant derivative FEPS; gastric adenocarcinoma lines AGP01, ACP02 and ACP03; melanoma SK-Mel-103 cells; and MN01 and MRC5, two non-neoplastic cell lines were analyzed by real-time polymerase chain reaction in order to evaluate hTERT gene expression. 31519574

2019

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. 31203567

2019

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Secondary genetic alterations overcome tumor suppressive mechanisms and allow the progression to intermediate lesions characterized by TERT-p mutation or to invasive melanomas displaying disruption of tumor suppressor genes. 30069451

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE TERT mutations were found in 68% of primary melanomas and 64% of metastases, and the mutation status was discordant between primary tumour and metastasis in 24% of the cases. 29123258

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Exploiting TERT dependency as a therapeutic strategy for NRAS-mutant melanoma. 29695835

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Two somatic mutations in the TERT promoter (C228T; C250T) have been identified as gain-of-function mutations that promote transcriptional activation of TERT in multiple cancers, such as melanoma and glioblastoma. 29449679

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression BEFREE The mutation causes increased TERT and telomerase levels through creation of a binding motif for E-twenty six (ETS) transcription factors and the carriers develop melanoma with an early age of onset and rapid progression to metastasis. 30203894

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Telomerase reverse transcriptase promoter mutations and solar elastosis in cutaneous melanoma. 29570169

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 PosttranslationalModification BEFREE <i>TERT</i> encodes the catalytic subunit of telomerase reverse transcriptase, which plays an important role in melanoma. 30046245

2018

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Our data provides additional evidence that UV-induced <i>TERT</i> promoter mutation frequencies vary depending on melanoma subtype, but preserves its prognostic value. 28123854

2017

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas. 28121081

2017

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE To elucidate this question, ETS1 and TERT immunohistochemistry were performed on a panel of benign (n=27) and dysplastic nevi (n=34), radial growth phase (n=29), vertical growth phase (n=25) and metastatic melanomas (n=27). 29262649

2017

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Here, we show that frequently recurring promoter mutations in melanoma occur almost exclusively at cytosines flanked by a distinct sequence signature, TTCCG, with TERT as a notable exception. 28489852

2017

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression BEFREE A more exhaustive understanding of the different molecular mechanisms leading to increased TERT expression may guide development of prognostic assays to stratify AYA melanoma patients according to clinical risk. 28378855

2017

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Our study replicates 20 of 21 previously known melanoma-loci and confirms the association of the telomerase reverse transcriptase, TERT, with melanoma susceptibility at genome-wide significance. 28212542

2017

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Reactivating TERT and hence reconstituting telomerase is an important step in melanoma progression from nonmalignant nevi with BRAF mutations. 27911794

2016

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Mutations in the TERT promotor region are also found in mucosal melanomas. 27004972

2016

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Two recurrent point mutations in the promoter region of telomerase reverse transcriptase (TERT)--the key subunit of telomerase--have recently been identified in melanoma as well as a small sample of bladder cancer cell lines. 27040924

2016

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression BEFREE We investigated the regulation of TERT expression in melanoma cell lines and our results show that promoter mutations render TERT expression dependent on MAPK activation due to oncogenic BRAF or NRAS mutations. 27449293

2016

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE The identification of POT1 and TERT germline mutations highlights the importance of telomere integrity in melanoma biology. 26433962

2016

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE The recently described telomerase reverse transcriptase (TERT) promoter mutations are recurrent in cutaneous melanoma. 26055532

2015

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE The recent identification of a high frequency of driver mutations in the promoter of the telomerase reverse transcriptase (TERT) gene in cutaneous melanoma led us to investigate whether these mutations also occur in SNMM. 25746036

2015

Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE We observed statistically significant associations with melanoma for two lung cancer SNPs in the TERT-CLPTM1L locus (Bonferroni-corrected p<2.8x10-4), replicating known pleiotropic effects at this locus. 25789475

2015