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 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 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 Biomarker BEFREE We then screened the TERT promoter in sporadic melanoma and observed recurrent ultraviolet signature somatic mutations in 125 of 168 (74%) of human cell lines derived from metastatic melanomas, 45 of 53 corresponding metastatic tumor tissues (85%), and 25 of 77 (33%) primary melanomas. 23348503

2013

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 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 Biomarker BEFREE These results indicate that AdRGD combined with transcriptional regulation using Tyr or TERT promoter is a potentially useful and safe vector system for suicide gene therapy for melanoma. 15746944

2005

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 rarity of TERT promoter mutation in the acral lentiginous melanoma was consistent with the supposed role of UV light in the melanoma pathogenesis and also corroborated the view that acral lentiginous melanomas have a different pathogenesis with the melanomas from sun-exposed sites. 24588324

2014

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 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 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 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 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 Recently, frequent somatic mutations in the TERT promoter have been described in several tumor entities such as melanoma, glioblastoma, bladder cancer, and hepatocellular carcinoma. 25267585

2014

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 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 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 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 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 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 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 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 In melanoma a correlation has been suggested between the occurrence of TERT promoter mutations and v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) mutations. 25035100

2014

Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE Highly recurrent TERT promoter mutations in human melanoma. 23348506

2013