Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 p.Glu17Lys (p.E17K)
(
ENST00000402615.6,
ENST00000349310.7,
ENST00000554848.5,
ENST00000555528.5,
ENST00000407796.7,
ENST00000553797.2,
ENST00000554192.6,
ENST00000554581.5,
ENST00000555458.6,
ENST00000649815.2,
ENST00000683722.1,
ENST00000714123.1,
ENST00000714130.1 )
AKT1 p.Glu17Lys (p.E17K) ( ENST00000349310.7, ENST00000402615.6, ENST00000407796.7, ENST00000553797.2, ENST00000554192.6, ENST00000554581.5, ENST00000554848.5, ENST00000555458.6, ENST00000555528.5, ENST00000649815.2, ENST00000683722.1, ENST00000714123.1, ENST00000714130.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- Breast cancer cell lines with the AKT1 E17K mutation did not show sensitivity to AKT inhibitor MK-2206, unlike cell lines with PIK3CA mutations.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/231
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2
- Variant URL
- https://civic.genome.wustl.edu/links/variants/4
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Does Not Support
- Drug
- Akt Inhibitor MK2206
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23888070
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Akt Inhibitor MK2206 | Sensitivity | false |