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 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 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 TERT promoter mutations in sinonasal malignant melanoma: a study of 49 cases. 25746036

2015

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 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 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 A total of 77% of areas of intermediate lesions and melanomas in situ harbored TERT promoter mutations, a finding that indicates that these mutations are selected at an unexpectedly early stage of the neoplastic progression. 26559571

2015

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 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 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 Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associated with more clinicopathological features of aggressiveness. 26055532

2015

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 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 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 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 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 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 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 Highly recurrent TERT promoter mutations in human melanoma. 23348506

2013

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 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 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 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 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 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