AKT1 E17K mutation
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-AKT1 |
|---|---|
| Type | Biomarker |
| Aliases | AKT1 E17KAKT1 mutationМутація AKT1 E17K |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ESMO-BREAST-METASTATIC-2024 SRC-NCCN-BREAST-2025 SRC-ONCOKB |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "Constitutive AKT1 membrane localization and PI3K-independent activation", "gene": "AKT1", "gene_hugo_id": "HGNC:391", "hotspots": ["E17K (PH-domain hotspot; >90% of AKT1 mutations across tumors)"], "variant_type": "missense"} |
| Measurement | MethodDNA-NGS (preferred) OR ctDNA NGS OR allele-specific PCR (E17K) Unitscategorical; VAF reported Sensitivity requirementStandard NGS; ctDNA acceptable for monitoring |
| Related biomarkers | BIO-PIK3CA-MUTATION BIO-PTEN |
Notes
~3–6% of HR+ HER2− metastatic breast (CAPItello-291 enrichment ~7%); also seen in endometrial, prostate, lung, meningioma. Capivasertib + fulvestrant FDA-approved for HR+ HER2− advanced breast harboring PIK3CA / AKT1 / PTEN alteration after progression on endocrine ± CDK4/6i (CAPItello-291). The pathway-altered cohort (any of the three) drove the benefit; AKT1 E17K alone is a smaller subset but responsive. Hyperglycemia + diarrhea + rash are class on-target effects.
Used By
Biomarker
BIO-PTEN- PTEN loss-of-function
Indications
IND-BREAST-HR-POS-2L-AKT-CAPIVASERTIB- IND-BREAST-HR-POS-2L-AKT-CAPIVASERTIB
Questionnaires
QUEST-BREAST-1L-STUB- Invasive breast cancer — first line