TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE Reverse transcriptase-polymerase chain reaction experiments were performed using primers within the reverse transcriptase domain of human telomerase reverse transcriptase and revealed the presence of multiple alternatively spliced transcripts in melanoma specimens. 11407973 2001
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE Human telomerase reverse transcriptase-transduced human cytotoxic T cells suppress the growth of human melanoma in immunodeficient mice. 15026357 2004
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease GENOMICS_ENGLAND Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 18460650 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma. 19578363 2009
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Therapeutic disease CTD_human Inhibition of melanoma growth by subcutaneous administration of hTERTC27 viral cocktail in C57BL/6 mice. 20856939 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. 21116649 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.700 AlteredExpression disease BEFREE Conversely, all immortal melanoma cultures expressed telomerase reverse transcriptase and telomerase, showing aneuploidy. 21418545 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Here, we describe two independent mutations within the core promoter of telomerase reverse transcriptase (TERT), the gene coding for the catalytic subunit of telomerase, which collectively occur in 50 of 70 (71%) melanomas examined. 23348506 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE In particular, mutations of the telomere binding proteins alpha thalassemia/mental retardation syndrome X-linked (ATRX) or death-domain associated protein (DAXX) have been shown to underlie a telomere maintenance mechanism not involving telomerase (alternative lengthening of telomeres), and point mutations in the promoter of the telomerase reverse transcriptase (TERT) gene increase telomerase expression and have been shown to occur in melanomas and a small number of other tumors. 23530248 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Two recent publications report the identification of a set of recurrent mutations in melanoma in the promoter of the telomerase reverse transcriptase gene (TERT) that appears to be the result of mutagenesis from ultraviolet (UV) radiation. 24030752 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE The four-color FISH probe detected 85.3% of melanomas and 29.4% of TERT and AURKA copy number gains. 24374110 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE The recent identification of driver mutations in the promoter of the telomerase reverse transcriptase (TERT) gene with UV-induced cytidine-to-thymidine transitions in cutaneous melanoma prompted us to investigate whether these mutations also occur in uveal melanoma. 24423917 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma. 24569790 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 AlteredExpression disease BEFREE Recurrent and mutually exclusive C>T or CC>TT transition mutations were identified in the promoter region of the reverse transcriptase catalytic subunit of the telomerase gene (TERT) in melanoma recently, and it was suggested that they enhanced the expression of TERT gene and played important roles in the melanoma pathogenesis. 24588324 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE In the melanoma dataset, two pancreatic cancer susceptibility variants were associated: NR5A2 (rs12029406; OR, 1.39; 95% CI, 1.01-1.92; P = 0.04) and CLPTM1L-TERT (rs401681; OR, 1.16; 95% CI, 1.01-1.34; P = 0.04). 24642353 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Mutation in the core promoter of the telomerase reverse transcriptase (TERT) gene was determined to be a frequent event in malignant melanoma and other cancers. 24866078 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in tumors of neuroectodermal origin such as melanoma and glioma. 25035100 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE Alterations in pathways including BRAF, CDKN2A, and TERT contribute to the development of melanoma, but the sequence in which the genetic alterations occur and their prognostic significance remains unclear. 25407517 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.700 Biomarker disease BEFREE A melanoma-associated molecular pathway was identified, where Ran, Aurora Kinase A (AurkA) and TERT were up-regulated, while c-myc and PTEN were down-regulated. 25444926 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)). 25457634 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE The recent identification of a high frequency of driver mutations in the promoter of the telomerase reverse transcriptase (TERT) gene in cutaneous melanoma led us to investigate whether these mutations also occur in SNMM. 25746036 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.700 GeneticVariation disease BEFREE We observed statistically significant associations with melanoma for two lung cancer SNPs in the TERT-CLPTM1L locus (Bonferroni-corrected p<2.8x10-4), replicating known pleiotropic effects at this locus. 25789475 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.700 AlteredExpression disease BEFREE Recently, recurrent mutations within the core promoter of the human telomerase reverse transcriptase (TERT) gene generating consensus binding sites for ETS transcription factor family members were described in melanomas and other malignancies (e.g. bladder cancer, hepatocellular carcinoma). 25997473 2015