Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Although TERT promoter mutations have been associated with a worsened prognosis in melanoma, the relationship between mutation status and downstream telomerase activity and telomere length remains convoluted. 31425705

2020

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Comparing tumours situated on palms and soles with melanomas arising on dorsal acral sites, a higher frequency of NRAS (39.1% versus 25%) and NF1 (17.3% versus 0%) and lower frequencies of BRAF (21.7% versus 75%) and TERT promoter (8.6% versus 50%) mutations were observed. 31419753

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE TERT promoter mutations were the most prevalent mutation type in PLA-positive melanomas; 82% of PLA-negative lesions had no mutations, and 97% of histopathologically confirmed melanomas were PLA and/or mutation positive (cohort 1, n = 103). 30500343

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Previously, the TERT promoter mutations were shown to associate with markers of poor outcome and reduced survival in patients with primary melanoma. 30070694

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE In particular, the high specificity of these mutations for melanoma indicates the presence of a TERT promoter mutation in a melanocytic neoplasm associated with diagnostic controversy, or uncertainty should increase concern for a melanoma. 30211730

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE The role of TERT promoter mutations in differentiating recurrent nevi from recurrent melanomas: A retrospective, case-control study. 30287318

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE The frequency of TERT promoter germline mutations in families with melanoma in our population is extremely rare. 30451293

2019

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker BEFREE Distribution of BRAF mutations did not differ across multiple melanomas (P = 0.85), whereas TERT promoter changes decreased from first to subsequent melanomas (P = 0.04). 29061376

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE The aims of this study were to assess the prognostic potential of solar elastosis grading and telomerase reverse transcriptase (TERT) promoter mutations (TERTp) in melanoma and to evaluate whether an association between solar elastosis and TERTp exists. 29570169

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker BEFREE The etiology and pathogenesis of the pediatric melanoma is currently being investigated; studies have examined the genetic alterations that may be involved with the development of pediatric melanomas including TERT promoter, BRAF, and NRAS among others. 29485257

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker BEFREE Although limited by sample size, our findings suggest that consideration be given to mutational analysis of metastatic tissue rather than the primary to guide BRAF-targeted therapy and question the roles of TERT promoter mutations and PD-L1 as predictive biomarkers in malignant melanoma. 30120967

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Paradoxically, we observed shorter telomeres (P = 1 × 10<sup>-5</sup> ) in primary tumors from unrelated melanoma patients with (121) than without (170) somatic TERT promoter mutations that similar to the germline mutation, also create binding motifs for ETS transcription factors. 30203894

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Overall, TERT promoter alterations were among the most prevalent aberrations in this population, with very high rates in brain cancers (48% of patients) and melanomas (56% of patients). 29211306

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker BEFREE Here we evaluated the detection of common mutations in BRAF, NRAS, and TERT promoter in 40 melanoma FFPE tissues using Droplet Digital (dd)PCR, and compared the results to the detection rates obtained by Sanger sequencing and pyrosequencing. 29305225

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE TERT promoter mutations are frequent in melanoma. 29123258

2018

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE To determine the prognostic value of TERT alterations in AYA melanoma, we investigated the association of TERT promoter mutations, as well as promoter methylation, an epigenetic alteration also linked to TERT upregulation, with TERT mRNA expression and outcome using a well-characterized cohort of 27 patients with melanoma (ages 8-25, mean 20). 28378855

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE We validated μ-cisTarget by re-analyzing the TAL1 and LMO1 enhancer mutations in T-ALL, and the TERT promoter mutation in melanoma. 28854983

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Here we screen a panel of 115 melanoma tumor samples from Austrian patients to evaluate the prevalence and distribution of TERT promoter mutations. 27990595

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Herein, we describe the use of combined bisulfite restriction enzyme analysis (COBRA) as a diagnostic tool for detecting the hypermethylated TERT promoter using in vitro methylated and unmethylated genomic DNA as well as genomic DNA from four melanomas and two benign melanocytic lesions. 28284778

2017

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE In this study, we aimed to assess the prognostic value of TERT promoter mutations in primary melanomas. 26875008

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Here, we perform an unbiased proteome-wide survey of transcription factor binding at TERT promoter mutations in melanoma. 26553150

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE TERT promoter mutations in melanoma render TERT expression dependent on MAPK pathway activation. 27449293

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Hence, combined targeting of RAS-ERK and TERT promoter remodeling is a promising avenue to limit long-term survival of a majority of melanomas that harbor these two mutations. 27911794

2016

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Recurrent somatic mutations in the TERT promoter region were first reported in human melanomas. 25862495

2015

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Because TERT promoter (TERT-p) mutations are common in inherently aggressive cutaneous conventional melanoma, we sought to evaluate their prognostic significance in spitzoid neoplasms. 26061100

2015