Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 p.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
A total of 57 women with HER2-positive metastatic breast cancer were analyzed after taxane plus trastuzumab chemotherapy. ABCB1 G2677T carriers had a longer progression-free survival (p = 0.037) along with a tendency toward a longer overall survival (p = 0.057).
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1075
Gene URL
https://civic.genome.wustl.edu/links/genes/4244
Variant URL
https://civic.genome.wustl.edu/links/variants/451
Rating
3
Evidence Type
Prognostic
Disease
Breast Cancer
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Better Outcome
Pubmed
22906996
Drugs