RET 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-RET-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | RET germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-THYROID-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "RET", "gene_hugo_id": "HGNC:9967", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
RET germline — drives MEN2A, MEN2B, and Familial Medullary Thyroid Carcinoma (FMTC). Medullary thyroid carcinoma (MTC) near-100% penetrance; pheochromocytoma in MEN2A/B; primary hyperparathyroidism in MEN2A; marfanoid habitus + mucosal neuromas in MEN2B. Prophylactic thyroidectomy timing keyed to specific codon variant (ATA risk tiers). STUB pending two-Co-Lead signoff.
Used By
Biomarker
BIO-RET-MEN2-CLASSIFICATION- RET codon-based MEN2 classification (MEN2A / MEN2B / FMTC)