Annotation Detail

Information
Associated Genes
CYP2D6
Associated Variants
SLCO1B1 p.Asn130Asp (p.N130D) ( ENST00000256958.3 )
SLCO1B1 p.Val174Ala (p.V174A) ( ENST00000256958.3 )
SLCO1B1 p.Asn130Asp (p.N130D) ( ENST00000256958.3 )
SLCO1B1 p.Val174Ala (p.V174A) ( ENST00000256958.3 )
Associated Disease
Progesterone receptor positive tumor
Source Database
DisGeNET
Description
The aim of this study was to evaluate the association of CYP2D6*10 (c.100C>T and c.1039C>T), OATP1B1 A388G, and OATP1B1 T521C polymorphisms with overall survival (OS) for hormone receptor (estrogen receptor or progesterone receptor)-positive tumors (ER+/PR+) breast cancer patients after adjuvant tamoxifen (TAM) therapy.
Pubmed
25701109
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2015
Drugs