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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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