Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 p.Ser893Thr (p.S893T) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Thr (p.S893T) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
ovarian cancer
Source Database
CIViC Evidence
Description
The ABCB1 G2677T/A (S893T, rs2032582) homozygous variant was positively correlated with response to paclitaxel treatment in ovarian cancer patients. 51 epithelial and 2 fallopian tube frozen tumors were analyzed for this study.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/674
Gene URL
https://civic.genome.wustl.edu/links/genes/4244
Variant URL
https://civic.genome.wustl.edu/links/variants/262
Rating
3
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Paclitaxel
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
16467099
Drugs
Drug NameSensitivitySupported
PaclitaxelSensitivitytrue