SUFU keimlinienpathogene Variante
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-SUFU-GERMLINE |
|---|---|
| Art | Biomarker |
| Aliase | SUFU germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Erkrankungen | DIS-GBM |
| Quellen | SRC-NCCN-CNS-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"functional_impact": "loss_of_function", "gene": "SUFU", "gene_hugo_id": "HGNC:16466", "variant_type": "missense_or_truncating"} |
| Verwandte Biomarker | None declared |
Anmerkungen
SUFU germline — drives Gorlin-syndrome variant with markedly higher pediatric medulloblastoma risk (~33%, SHH-subtype, often <3 years) compared with PTCH1-Gorlin (~5%). Lower BCC burden than PTCH1. Other features overlap NBCCS (jaw keratocysts may be less prevalent). AVOID craniospinal radiation when feasible — drives second primaries / treatment-related BCCs. Surveillance: brain MRI every 3-4 months in infants/young children. STUB pending two-Co-Lead signoff.
Verwendet von
Therapeutische Relevanz
BMA-SUFU-GERMLINE-MEDULLOBLASTOMA- SUFU keimlinien-pathogene Varianten verursachen eine Gorlin-Syndrom-ähnliche Prädisposition mit viel h...