SUFU germline pathogenic variant
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BIO-SUFU-GERMLINE |
|---|---|
| Type | Biomarqueur |
| Alias | SUFU germline патогенний варіант |
| État | reviewed 2026-05-18 | pending_clinical_signoff |
| Maladies | DIS-GBM |
| Sources | SRC-NCCN-CNS-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"functional_impact": "loss_of_function", "gene": "SUFU", "gene_hugo_id": "HGNC:16466", "variant_type": "missense_or_truncating"} |
| Biomarqueurs connexes | Aucune déclaration |
Notes
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.
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Pertinence thérapeutique
BMA-SUFU-GERMLINE-MEDULLOBLASTOMA- SUFU germline pathogenic variants cause a Gorlin-syndrome–like predisposition with much h...