Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
WRN p.Cys1367Arg (p.C1367R) ( ENST00000298139.7 )
WRN p.Cys1367Arg (p.C1367R) ( ENST00000298139.7 )
Associated Disease
Breast Cancer, Familial
Source Database
DisGeNET
Description
Genotyping analyses, performed on 816 BRCA1/2 mutation-negative German familial breast cancer patients and 1012 German controls, revealed a significant association of the WRN Cys1367Arg polymorphism with familial breast cancer (OR = 1.28, 95% CI 1.06-1.54) and high-risk familial breast cancer (OR = 1.32, 95% CI 1.06-1.65).
Pubmed
16501249
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.195656337440284
Year of publication
2006
Drugs