Annotation Detail

Information
Associated Genes
CYP19A1
Associated Variants
CYP19A1 p.Arg264Cys (p.R264C) ( ENST00000396404.8, ENST00000559878.5, ENST00000396402.6 )
CYP1B1 p.Val432= (p.V432=) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
CYP19A1 p.Arg264Cys (p.R264C) ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
CYP1B1 p.Leu432Val (p.L432V) ( ENST00000490576.2, ENST00000494864.1, ENST00000610745.5, ENST00000614273.1, ENST00000714520.1 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here.
Pubmed
12618873
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.113930234010038
Year of publication
2003
Drugs