Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 p.Tyr537Cys (p.Y537C)
(
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000427531.6,
ENST00000440973.5,
ENST00000443427.5,
ENST00000456483.3 )
ESR1 p.Tyr537Cys (p.Y537C) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- MCF7 cell lines harboring the Y537C mutation in the ligand-binding domain of ESR1 have shown resistance to hormone therapy.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/244
- Gene URL
- https://civic.genome.wustl.edu/links/genes/21
- Variant URL
- https://civic.genome.wustl.edu/links/variants/48
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Hormone Therapy
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24185512
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Hormone Therapy | Resitance or Non-Reponse | true |