ESR1-Mutation (Ligand-bindende Domäne)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-ESR1 |
|---|---|
| Art | Biomarker |
| Aliase | ER-α-MutationESR1 D538GESR1 LBDESR1 LBD-MutationESR1 Y537SМутація ESR1 (ліганд-зв'язуючий домен) |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Erkrankungen | DIS-BREAST |
| Quellen | SRC-ESMO-BREAST-METASTATIC-2024 SRC-NCCN-BREAST-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"functional_impact": "Constitutive ER-α activation in absence of estrogen — drives aromatase-inhibitor resistance", "gene": "ESR1", "gene_hugo_id": "HGNC:3467", "hotspots": ["D538G", "Y537S", "Y537N", "Y537C", "L536H", "E380Q"], "variant_type": "missense (ligand-binding domain)"} |
| Messung | VerfahrenPlasma ctDNA NGS (vorzugsweise — hohe Übereinstimmung + serielle Überwachung) ODER Tumor-Gewebe NGS Einheitenkategorisch (positiv/negativ); VAF berichtet SensitivitätsanforderungctDNA-Test LoD ~0,5 % VAF (Guardant360 / FoundationOne Liquid CDx); häufige polyklonale ESR1-Mutationen |
| Verwandte Biomarker | BIO-ESTROGEN-RECEPTOR BIO-PIK3CA-MUTATION |
Anmerkungen
Acquired in ~30–40% of HR+ HER2− metastatic breast progressing on aromatase inhibitor; <1% in primary tumors at diagnosis. Predictive for elacestrant (oral SERD; EMERALD trial — PFS benefit limited to ESR1-mut subgroup). Test on ctDNA at progression on AI ± CDK4/6i. Other oral SERDs (camizestrant, giredestrant, imlunestrant) and PROTACs in late development. Y537S confers more aggressive biology than D538G in some series. ctDNA is the preferred specimen because ESR1 mutations are typically subclonal in tissue and frequently polyclonal across metastatic sites.
Verwendet von
Therapeutische Relevanz
BMA-ESR1-MUT-BREAST- ESR1-Ligan-bindende-domain-Mutationen verleihen Aromatase-Inhibitor (AI) Widerstand durch c...
Kapitel des Handbuchs
HB-BREAST-HR-POS-HER2-NEG-1L- HR+/HER2- metastasierter Brustkrebs:
Anwendungsgebiet
IND-BREAST-HR-POS-2L-ESR1-ELACESTRANT- IND-BREAST-HR-POS-2L-ESR1-ELACESTRANT
Fragebogen
QUEST-BREAST-1L-STUB- Invasiver Brustkrebs — erste Zeile