Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR1 p.Ser463Pro (p.S463P)
(
ENST00000456483.3,
ENST00000206249.8,
ENST00000338799.9,
ENST00000406599.5,
ENST00000427531.6,
ENST00000440973.5,
ENST00000443427.5 )
ESR1 p.Ser463Pro (p.S463P) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- estrogen-receptor positive breast cancer
- Source Database
- CIViC Evidence
- Description
- ESR1 S463P variants were observed after extensive treatment with hormonal therapy (aromatase inhibition). Expression of the S463P mutant was found to induce modest activity in the absence of hormone. This mutation displayed elevated levels of Ser118 phosphorylation compared to wild-type ERα and appeared to possess estrogen-independent activity.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1727
- Gene URL
- https://civic.genome.wustl.edu/links/genes/21
- Variant URL
- https://civic.genome.wustl.edu/links/variants/692
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Estrogen-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Aromatase Inhibitor
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24185512
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Aromatase Inhibitor | Resitance or Non-Reponse | true |