Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 MUTATION
MLH1 MUTATION
ATM p.Asp1853Asn (p.D1853N) ( ENST00000452508.7, ENST00000278616.10, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 ) - Associated Disease
- Malignant neoplasm of urinary bladder
- Source Database
- DisGeNET
- Description
- We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls.
- Pubmed
- 22927776
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0116396628910506
- Year of publication
- 2012
Drugs