TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE The evidence presented in this article of possible interactions between TERT and a discrete subset of known stem cell markers would significantly contribute to further enquiries regarding clonal dynamics in the context of human breast cancer. 30850363 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Telomerase reverse transcriptase coordinates with the epithelial-to-mesenchymal transition through a feedback loop to define properties of breast cancer stem cells. 29907642 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Genetic polymorphisms in human telomerase reverse transcriptase (hTERT) gene polymorphisms do not associated with breast cancer in patients in a turkish population: hospital-based case-control study. 29506639 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1). 30194396 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In this study, we examined the association between TERT polymorphisms and breast cancer risk by meta-analysis. 27461695 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas. 28121081 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Association Between Human Telomerase Reverse Transcriptase Gene Variations and Risk of Developing Breast Cancer. 27336831 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE The aim of our study was to investigate the association of allelic variants of three functional polymorphisms rs2853669, rs2736100, and rs7726159 in the telomerase reverse transcriptase (TERT) gene with the risk of the breast cancer and prostate cancer in Russian population. 25296732 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease CTD_human Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. 23535731 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the same direction as previously reported: rs10069690 (5p15/TERT), rs999737 (14q24/RAD51L1), rs13387042 (2q35/TNP1), rs1219648 (10q26/FGFR2), rs8170 (19p13/BABAM1), rs17817449 (16q12/FTO), and rs13329835 (16q23/DYL2). 23593120 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk overall, including TEP1 rs93886 (OR 0.82, 95% CI 0.70,0.95); TERF2 rs3785074 (OR 1.13, 95% CI 1.03,1.24); TERT rs4246742 (OR 0.85, 95% CI 0.77,0.93); TERT rs10069690 (OR 1.13, 95% CI 1.03,1.24); TERT rs2242652 (OR 1.51, 95% CI 1.11,2.04); and TNKS rs6990300 (OR 0.89, 95% CI 0.81,0.97). 23629941 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE Inhibitory effects of β-cyclodextrin-helenalin complexes on H-TERT gene expression in the T47D breast cancer cell line - results of real time quantitative PCR. 24377631 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Similarly, a Dyrk2 nonsense mutation identified in breast cancer compromises ubiquitination-mediated TERT protein degradation. 23362280 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE We performed a case-control study to evaluate the role of three SNPs (TERT-07, TERT-54 and POT1-03) in telomere maintenance genes previously found to be significantly associated with breast cancer risk. 22970196 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Given the differences in linkage disequilibrium patterns across populations, our findings suggest that larger independent studies from diverse populations are expected to evaluate the importance of the TERT-CLPTM1L locus in breast cancer. 22134622 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE A similar reduced trend for breast cancer-specific mortality was observed for carrying the TERT-14 (rs2853677) T-allele (HR=0.57, 95% CI: 0.39-0.84), while carrying the POT1-18 (rs1034794) T-allele significantly increased breast cancer-specific mortality (HR=1.48, 95% CI: 1.00-2.19). 22527105 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE The expression of serum hTERT was significantly correlated with telomerase activity in breast cancer tissues. 21526393 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE These results suggest that suicide genes HSV-TK and NTR mediated by a single adenovirus vector under the control of an enhanced hTERT promoter results in additive anti-tumor effects and may provide a relatively safe strategy for the treatment of breast cancer by tumor-specific targeting. 21573500 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE The present minireview discusses the research that identified Ets as a regulator of telomerase required for breast cancer cell survival and proliferation, highlighting the discoveries central to understanding the molecular acts used by Ets TFs to mediate TERT gene transcription. 19566835 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Four SNPs in the TERT and POT1 genes were significantly related with overall breast cancer risk. 20056641 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE Thus, our data suggest that BMP7 induces breast cancer cell aging and death by a mechanism involving inhibition of telomerase activity and telomere maintenance via BMPRII receptor- and Smad3-mediated repression of the hTERT gene. 19193721 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In our attempt to identify functional polymorphisms in the TERT gene and their effect on breast cancer risk, we sequenced the promoter of the gene and identified three single nucleotide polymorphisms (SNPs) with a frequency of at least 10%. 19380022 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE The effect of the hTERT siRNA on the tumorigenicity of the breast cancer cells was also studied in vivo by injection of the siRNA-transfected breast cancer cells into nude mice. 19416503 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE The objective of the study was to quantify the human telomerase reverse transcriptase (hTERT) gene in the circulating DNA of patients with primary breast cancer (BC) and to test its correlation with clinical parameters of the disease. 19596972 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE Thus, hTERT gene expression is maintained by a mechanism involving Ets2 interactions with the c-Myc transcription factor and the hTERT gene promoter, a protein-DNA complex critical for hTERT gene expression and breast cancer cell proliferation. 18586674 2008