Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Prevalence of BRAF V600E and TERT coexistence in PTC was 2.1%. 31300059 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 AlteredExpression disease BEFREE To elucidate the role of TERT as an eligible molecular target in these tumors, the expression of hTERT was analyzed in a series of PTCs and the effects of both pharmacological and RNA-interference-induced hTERT silencing were investigated in two human PTC cell lines (K1 and BCPAP). 30661164 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. 31454788 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Mutation in the telomerase reverse transcriptase promoter is observed in PTC cases involving elderly male patients. 30788603 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE These findings indicate that the TERT C228T mutation is significantly correlated with certain aggressive clinic-pathological features of PPTC. 31321667 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE We studied 198 papillary thyroid carcinomas (PTCs), 34 follicular thyroid carcinomas (FTCs), 40 Hürthle cell carcinomas (HCCs), 14 poorly differentiated/anaplastic thyroid carcinomas (PDTC/ATC), and 15 medullary thyroid carcinomas (MTCs) for mutations in an -424 bp to +64 bp region of TERT. 31408918 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 Biomarker disease BEFREE TERT mutation constitutes a novel genetic biomarker indicating absent or weaker <sup>131</sup> I-avid lesions in RAIR PTC patients. 31026111 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 AlteredExpression disease BEFREE The mechanism of the synergistic effect between BRAFV600E and TERT promoter mutations on cancer invasiveness and progression in PTC may be explained by increased TERT expression, which may result from the BRAF-induced upregulation of several ETS transcription factors. 30999281 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Nine (69%) ATC cases with papillary thyroid carcinoma (PTC) components harboured BRAF mutations, all of which coexisted with a late mutation event (TP53, TERT, or PIK3CA). 31230400 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE We found rs11246050 in NLRP6 (dominant model, OR/95% CI: 2.028/1.091-3.769, p = 0.025), rs2286742 and rs3740530 in HABP2 (recessive model, OR/95% CI: 9.644/1.307-71.16, p = 0.026 and 3.989/1.413-11.26, p = 0.009), rs2736098 in TERT (recessive model, OR/95% CI: 2.322/1.028-5.242. p = 0.042) and rs62054619 in GAS8-AS1 (recessive model, OR/95% CI: 2.219/1.067-4.617, p = 0.033) were associated with the risk of PTC. rs1137282 in KRAS (dominant model, OR/95% CI: 0.5430/0.3192-0.9236, p = 0.024), rs1347591 and rs4461062 in NUP93 (dominant model, OR/95% CI: 0.6121/0.4128-0.9076, p = 0.015 and 0.6156/0.4157-0.9117, p = 0.015) were associated with low risk of distant metastatic disease in PTC patients. rs33954691 in TERT was associated with the risk of RR-PTC under dominant model (OR/95% CI: 3.161/1.596-6.262). 30826992 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Associations of telomerase reverse transcriptase rs10069690 and rs2736100 polymorphisms with papillary thyroid carcinoma. 31651569 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE We conclude that coexisting BRAF V600E and TERT mutations in patients with PTC are associated with poor initial prognostic factors and clinical course and may be useful for predicting a worse response to therapy, recurrence, and poorer outcome than in patients without the above mutations. 31305897 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Further haplotype analysis revealed a stimulative effect of haplotypes TC and CA of TERT rs10069690-rs2736100, which increased risk for PTC in female individuals (OR = 1.579, P = 0.014; OR = 0.726, P = 0.025, respectively). 31538903 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Microfluidic Droplet Digital PCR Is a Powerful Tool for Detection of BRAF and TERT Mutations in Papillary Thyroid Carcinomas. 31810221 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 AlteredExpression disease BEFREE TERT protein overexpression was noted in 20.1% of our PTC cohort and was significantly associated with poor prognostic markers such as older age, extrathyroidal extension and Stage IV tumors. 29266240 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 Biomarker disease BEFREE To evaluate whether and how TERT functioned on papillary thyroid cancer (PTC) cell proliferation, the present study constructed TERT over‑expression [recombined (r)TERT plasmid group] and interference [small interfering RNA (si)‑TERT group] models by liposome transfection respectively to study the molecular mechanisms. 29901196 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Transcriptome analysis of papillary thyroid cancer harboring telomerase reverse transcriptase promoter mutation. 30102829 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Compared with patients harboring neither mutation, HRs (95% CIs) for PTC-specific mortality were 3.08 (0.87-10.84) for BRAF V600E alone; 8.18 (2.04-32.75) with TERT mutation alone; and 37.77 (12.50-114.09) with both mutations. 27581851 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE TERT mutations were identified in 13% of adults and in none of the pediatric PTCs. 28176151 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE For identifying telomerase reverse transcriptase promoter-mutated papillary thyroid cancer, ultrasonographic had 64.3% sensitivity, 80.8% specificity, 50.0% positive predictive value and 88.4% negative predictive value. 28616852 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE This study is to investigate if any relationship exists between the telomerase reverse transcriptase (TERT) promoter or proto-oncogene BRAF mutation and ultrasound (US) and clinicopathological features of papillary thyroid carcinomas (PTCs). 29312581 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE The combination of BRAF and TERT promoter mutations could classify PTCs into four distinct risk groups with decreasing aggressiveness as follows: coexisting BRAF and TERT > TERT alone=BRAF alone > no mutations. 28666074 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Thus, by confirming and expanding previous findings in single-institution studies, this multicenter data analysis establishes a six-genotype genetic prognostic model for poor outcomes of PTC with a risk order of genetic duet of BRAF V600E/RAS mutation and TERT mutation >BRAF V600E = TERT mutation alone >RAS mutation alone = wild-type genes. 27875244 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE Thus, this study, the largest on TERT mutation so far, demonstrates a significant role of BRAF V600E and TERT promoter mutations in the aggressiveness of PTC, which is particularly robust and cooperative when the two mutations coexist. 26943032 2016
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.100 GeneticVariation disease BEFREE The TERT(C228T) mutation status was an independent prognostic factor for recurrence-free survival (hazard ratio = 3.08 [confidence interval 1.042-9.079]; p = 0.042) in patients with PTC in multivariate analysis. 27184112 2016