Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT c.-245T>C
TERT c.-245T>C
Associated Disease
Recurrent tumor
Source Database
DisGeNET
Description
Our data showed that a common polymorphism rs2853669, within a preexisting Ets2 binding site in the TERT promoter, acts as a modifier of the effect of the mutations on survival and tumor recurrence.
Pubmed
24101484
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2013
Drugs