rs2853669, TERT

N. diseases: 35
Disease: Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE TERT rs2853669 polymorphism was found in 44.4% of tumors. 25448848 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.030 GeneticVariation BEFREE The TERT core promoter region containing the previously described mutations and a common functional polymorphism (rs2853669) was sequenced in tumors and blood samples from 192 GBM patients. 25140036 2015