NF1 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-NF1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | NF1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-CNS-2025 SRC-NF1-CONSORTIUM |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "NF1", "gene_hugo_id": "HGNC:7765", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
NF1 germline — drives Neurofibromatosis type 1. Cancer spectrum: malignant peripheral nerve sheath tumor (MPNST, lifetime ~8-13%), optic-pathway glioma (childhood), pheochromocytoma, GIST, juvenile myelomonocytic leukemia, breast (premenopausal women elevated). Plexiform neurofibromas are MPNST precursors. Selumetinib (MEK inhibitor) FDA-approved for symptomatic inoperable plexiform NF in children. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.