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
In a phase-I study of AZD5363, partial response was observed in 2 patients with breast and ovarian carcinoma, respectively, and AKT1 E17K mutations. While full study results have not yet been published, this paper highlights in vitro results that further confirm the role of AKT E17K mutation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/709
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
Supports
Drug
Capivasertib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26351323
Drugs
Drug NameSensitivitySupported
CapivasertibSensitivitytrue