Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
ERCC4 p.Ser835= (p.S835=)
(
ENST00000311895.8,
ENST00000682617.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 c.1083-59G>A ( ENST00000262887.10, ENST00000543982.5 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XPC p.Arg687Ser (p.R687S) ( ENST00000285021.12 )
XPC p.Arg687= (p.R687=) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
ERCC4 p.Ser835= (p.S835=) ( ENST00000311895.8, ENST00000682617.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 c.1083-59G>A ( ENST00000262887.10, ENST00000543982.5 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XPC p.Arg687Ser (p.R687S) ( ENST00000285021.12 )
XPC p.Arg687= (p.R687=) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study.
- Pubmed
- 21622940
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0184580473014606
- Year of publication
- 2011
Drugs