Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 p.Leu536Gln (p.L536Q)
(
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000427531.6,
ENST00000440973.5,
ENST00000443427.5,
ENST00000456483.3 )
ESR1 p.Leu536Gln (p.L536Q) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- Using an estrogen response element (ERE)-luciferase reporter system co-transfected with one of five ESR1 mutants, the L536Q ligand binding domain mutation was shown to result in constitutive activity (response in the absence of beta-estradiol ligand) and continued responsiveness (inhibition of downstream target activation) to anti-estrogen therapies (tamoxifen or fulvestrant) in HEK293T cell lines.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/290
- Gene URL
- https://civic.genome.wustl.edu/links/genes/21
- Variant URL
- https://civic.genome.wustl.edu/links/variants/46
- Rating
- 5
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Fulvestrant,Tamoxifen
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24185510
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Fulvestrant | Sensitivity | true |
| Tamoxifen | Sensitivity | true |