CDC73 (HRPT2) 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-CDC73-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | CDC73 (HRPT2) germline патогенний варіантCDC73 germline pathogenic variant |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-PARATHYROID-CARCINOMA |
| Sources | SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "CDC73", "gene_hugo_id": "HGNC:16783", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
CDC73 (HRPT2) germline — drives Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome. Spectrum: primary hyperparathyroidism (often single-gland adenoma, ~15% parathyroid carcinoma), ossifying fibromas of mandible/maxilla, uterine tumors, renal cysts/Wilms-like tumors. Surveillance: annual serum calcium + PTH + neck exam; jaw imaging; renal/uterine imaging in carriers. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-CDC73-GERMLINE-HPT-JT- CDC73 (HRPT2) germline pathogenic variants drive Hyperparathyroidism–Jaw Tumor (HPT-JT) s...