Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 p.Asp538Gly (p.D538G) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ESR1 p.Asp538Gly (p.D538G) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
In a study of 16 patients with metastatic breast cancer (NCT02142868) treated with palbociclib in combination with letrozole, patients with ESR1 mutations (5/16), including ESR1 D538G (n=2), detected at any time or at initial blood draw, were associated with reduced progression free survival (HR=0.31, 95% CI: 0.05-0.95, P=0.047), as compared with patients with wildtype ESR1 (n=11). There was no significant difference in overall survival (median; 14.1 versus 12.8 months, HR=0.40; 95% CI: 0.06-2.0, P-value=0.24).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4814
Gene URL
https://civic.genome.wustl.edu/links/genes/21
Variant URL
https://civic.genome.wustl.edu/links/variants/47
Rating
2
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Does Not Support
Drug
Palbociclib,Letrozole
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
27556863
Drugs
Drug NameSensitivitySupported
LetrozoleSensitivityfalse
PalbociclibSensitivityfalse