Annotation Detail
Information
- Associated Genes
- MRC1
- Associated Variants
-
TERT c.2654+269T>C
(
ENST00000310581.10,
ENST00000334602.10 )
TERT c.2654+269T>C ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Hereditary Nonpolyposis Colorectal Cancer
- Source Database
- DisGeNET
- Description
- In conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age.
- Pubmed
- 22948024
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
- Year of publication
- 2013
Drugs