Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 MUTATION
ESR1 MUTATION
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000651593.1, ENST00000306010.8 )
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Ile143Val (p.I143V) ( ENST00000306010.8, ENST00000651593.1 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage.
- Pubmed
- 16633920
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0121825466352112
- Year of publication
- 2006
Drugs