rs2853669, TERT

N. diseases: 35
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The association of rs2853669 with telomerase reverse transcriptase (TERT) mRNA level and relative telomere length (RTL) was analysed using resected tumour samples from 250 NSCLC patients. 31446212 2019
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
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 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
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 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 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
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE However, we identified a modifying effect of rs2853669 on <i>TERTp</i> mutations in that, among cancer patients with <i>TERTp</i> mutations, only those carrying the TT genotype had a poor survival (Hazard ratio = 1.56, 95% confidence interval = 1.06-2.28); subgroup analyses by cancer type also supported these results. 28881610 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Subsequent analyses also did not reveal any association between rs2853669 and overall cancer prognosis. 28881610 2017
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.020 GeneticVariation BEFREE We found that G allele of rs2736100 and G allele of rs2853669 in TERT gene, interaction between rs2736100 and smoking, and haplotype containing the rs2736100- G and rs2736109- A alleles were all associated with increased GC risk. 28423629 2017
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE We found that G allele of rs2736100 and G allele of rs2853669 in TERT gene, interaction between rs2736100 and smoking, and haplotype containing the rs2736100- G and rs2736109- A alleles were all associated with increased GC risk. 28423629 2017
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 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 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.020 GeneticVariation BEFREE Because this is the first study regarding the hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G and rs2736100 T>G polymorphisms and the risk of GC susceptibility in the literature, further independent studies are needed to verify our results in a larger sample sizes, as well as in patients of different populations. 27016301 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE Because this is the first study regarding the hTERT rs2736109 G>A, rs2735940 T>C, rs2853669 A>G and rs2736100 T>G polymorphisms and the risk of GC susceptibility in the literature, further independent studies are needed to verify our results in a larger sample sizes, as well as in patients of different populations. 27016301 2016