MET 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-MET-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | MET germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-KIDNEY-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "MET", "gene_hugo_id": "HGNC:7029", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
MET germline activating missense variants — drive Hereditary Papillary Renal Carcinoma (HPRC) type 1. Bilateral multifocal type-1 papillary RCC; lifetime renal-cancer risk ~67%. Surveillance: abdominal MRI q12-24mo; nephron-sparing surgery preferred. Note: germline MET activates rather than ablates (most germline-cancer genes are LOF). MET-targeted TKIs (e.g., crizotinib, savolitinib) are options for advanced HPRC. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.