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 In this review we discuss the discovery and possible implications of the TERT promoter mutations in melanoma and other cancers. 24657534

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE The aim of this study was to test the hypothesis that MUP and mucosal melanomas harbor different prevalences of TERT-promoter mutations. 24463461

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Mutations of TERT promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. 23799844

2013

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 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 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 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

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE TERT promoter mutations were identified in 154 (43%) of 362 successfully sequenced melanomas. 25217772

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Our results suggest that various carcinogenic factors may cause distinct TERT promoter mutations in BCC and that TERT promoter mutations might be associated with a poorer prognosis in melanoma. 24691053

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE TERT promoter mutations in cutaneous melanoma often show UV-signatures. 24260374

2013

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 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 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 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 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 With the recent discovery of recurrent mutations in the TERT promoter in melanoma, identification of other somatic causal promoter mutations is of considerable interest. 26082173

2015

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 found that the activating TERT promoter mutations reported in melanoma are also frequent in squamous cell carcinoma (50%) and basal cell carcinoma, the latter including both sporadic tumors (78%) and tumors from patients with nevoid basal cell carcinoma syndrome (68%). 24030752

2014

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 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 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 Mutations of the TERT promoter were not identified in conjunctival nevi or PAM without atypia, but were detected in 2/25 (8%) of PAM with atypia and 16/39 (41%) of conjunctival melanomas. 25159205

2014

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