rs2853669, TERT

N. diseases: 35
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
0.010 GeneticVariation BEFREE We show that rs2853669 CC may be a risk factor for the development of AML that may also be used as a prognostic marker to identify high risk normal karyotype-AML (NK-AML) patients, for treatment guidance. 26298771 2015
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.010 GeneticVariation BEFREE The effect of rs2853669 on lung cancer risk was significant in younger individuals (OR=1.73, 95% CI=1.18-2.54, P=0.005) and adenocarcinoma (OR=1.50, 95% CI=1.07-2.07, P=0.02). 26425038 2015
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.010 GeneticVariation BEFREE Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. 25681309 2015
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
0.010 GeneticVariation BEFREE In conclusion, we demonstrate a substantial role for the rs2853669 in HCC with TERT promoter mutation, which suggests that the combination of the rs2853669 and the mutation indicate poor prognoses in liver cancer. 26575952 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE It was observed that hTERT rs2736098 was associated with breast cancer risk (odds ratio [OR] = 1.88; p = 0.034), while rs2736100 and rs2853669 did not significantly differ between the groups. 27336831 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE We also found rs2853669 and rs2736098 polymorphisms were significantly associated with breast cancer risk (OR = 0.76; 95% CI: 0.63-0.90; P = 0.002 and OR = 0.79; 95% CI: 0.72-0.87; P < 0.00001), respectively. 27461695 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE Collectively, our functional studies of the <i>TERT</i>-<i>CLPTM1L</i> breast cancer susceptibility locus describe rs2853669 as a functional variant of this association signal among three other potentially causal variants and demonstrate the versatile mechanisms by which <i>TERT</i> promoter variants may affect breast cancer risk. 28978027 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.740 GeneticVariation BEFREE In this study, it was found that there was no statistical difference between hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G, rs2736098 G>A, and rs2736100 T>G polymorphisms that can be associated with risk of BC. 29506639 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE In the logistic regression analysis, TERT-rs2853669, rs2736108, and CLPTM1L-rs31490 were significant associated with increased risk of lung cancer (OR = 1.46, 95% CI = 1.22-1.75; OR = 1.22, 95% CI = 1.00-1.49 and OR = 1.74, 95% CI = 1.35-2.23 under additive model, respectively). 23908149 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE The effect of rs2853669 on lung cancer</span> risk was significant in younger individuals (OR=1.73, 95% CI=1.18-2.54, P=0.005) and adenocarcinoma (OR=1.50, 95% CI=1.07-2.07, P=0.02). 26425038 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE The results of this meta-analysis suggest that the TERT rs2853669 polymorphism is associated with a significantly increased risk of cancer, particularly lung cancer, in Asian populations. 29534075 2018
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.010 GeneticVariation BEFREE Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. 25681309 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE On the other hand, rs2736100 and rs2853669 showed no association with colorectal cancer (p ≥ 0.128). 26501986 2015
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE Possible association of the TERT promoter polymorphisms rs2735940, rs7712562 and rs2853669 with diabetes mellitus in obese elderly Polish population: results from the national PolSenior study. 29938393 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The univariate analysis has revealed that carriers of CC SNP (rs2853669) have had the shortest RTL in the T2DM group. 29938393 2018
Ependymoma
CUI: C0014474
Disease: Ependymoma
0.010 GeneticVariation BEFREE We determined telomerase enzymatic activity, hTERT mRNA expression, promoter methylation, and the rs2853669 single nucleotide polymorphism located in the hTERT promoter in a well-characterized cohort of pediatric intracranial ependymomas. 28371821 2017
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.040 GeneticVariation BEFREE The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism. 26914704 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.040 GeneticVariation BEFREE Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. 25681309 2015
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.040 GeneticVariation BEFREE TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas. 26608520 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.040 GeneticVariation BEFREE Pre-operative MRIs of 64/67 genetically confirmed primary GBM patients (51/67 TERT-mutated with rs2853669 polymorphism) were analyzed according to Visually AcceSAble Rembrandt Images (VASARI) ( https://wiki.cancerimagingarchive.net/display/Public/VASARI+Research+Project ) imaging criteria by three radiological raters. 28894890 2017
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.010 GeneticVariation BEFREE Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. 25681309 2015
Ichthyosis, X-Linked
CUI: C0079588
Disease: Ichthyosis, X-Linked
0.010 GeneticVariation BEFREE The variant C allele of rs2853669 was found in 54.8% (34/62) of all STSs and in 75% (3/4) of TERT-mutated cases. 26391479 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We show that rs2853669 CC may be a risk factor for the development of AML that may also be used as a prognostic marker to identify high risk normal karyotype-AML (NK-AML) patients, for treatment guidance. 26298771 2015
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation BEFREE In conclusion, we demonstrate a substantial role for the rs2853669 in HCC with TERT promoter mutation, which suggests that the combination of the rs2853669 and the mutation indicate poor prognoses in liver cancer. 26575952 2016