SUFU germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-SUFU-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | SUFU germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-GBM |
| Sources | SRC-NCCN-CNS-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "SUFU", "gene_hugo_id": "HGNC:16466", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
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.
Used By
Actionability
BMA-SUFU-GERMLINE-MEDULLOBLASTOMA- SUFU germline pathogenic variants cause a Gorlin-syndrome–like predisposition with much h...