rs2853669, TERT

N. diseases: 35
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas. 26608520 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE A common single-nucleotide polymorphism in the telomerase reverse transcriptase (TERT) promoter, rs2853669 influences patient survival rates and the risk of developing cancer. 26575952 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE A common single-nucleotide polymorphism in the telomerase reverse transcriptase (TERT) promoter, rs2853669 influences patient survival rates and the risk of developing cancer. 26575952 2016
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
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
Liver carcinoma
CUI: C2239176
Disease: 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
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
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
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE On the other hand, rs2736100 and rs2853669 showed no association with colorectal cancer (p ≥ 0.128). 26501986 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm 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 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
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
Sarcoma
CUI: C1261473
Disease: Sarcoma
0.010 GeneticVariation BEFREE Our aim is to determine the frequency of c.-124 C>T and c.-146 C>T TERT mutations and to genotype the rs2853669 polymorphism in a series of 68 soft tissue sarcomas (STS) comprising 22 histological subtypes. 26391479 2016
Steroid Sulfatase Deficiency Disease
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
Sarcoma of soft tissue
CUI: C4551687
Disease: Sarcoma of soft tissue
0.010 GeneticVariation BEFREE Our aim is to determine the frequency of c.-124 C>T and c.-146 C>T TERT mutations and to genotype the rs2853669 polymorphism in a series of 68 soft tissue sarcomas (STS) comprising 22 histological subtypes. 26391479 2016
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
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE Interleukin-6 (IL-6) expression regulated by TERT promoter status and polymorphism, what leads us to think that TERT and IL-6 plays a significant role in GBM, where specific SNPs increase the risk of developing GBM while the rs2853669 SNP and specific mutations in the TERT promoter of the tumor lead to shorter survival. 26143636 2015
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 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
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
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