Annotation Detail

Information
Associated Genes
MET
Associated Variants
MET MUTATION
MET MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
Adenoma of large intestine
Source Database
DisGeNET
Description
Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls) in Los Angeles County, we investigated possible associations between single-nucleotide polymorphisms in the XRCC1 (codons 194 Arg/Trp and codon 399 Arg/Gln) and XRCC3 (codon 241 Thr/Met) genes and colorectal adenoma risk and their possible role as modifiers of the effect of monounsaturated fatty acid, the ratio of omega-6/omega-3 polyunsaturated fatty acids, and antioxidant intake.
Pubmed
15767338
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2005
Drugs