TP53 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-TP53-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | TP53 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "TP53", "gene_hugo_id": "HGNC:11998", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
TP53 germline — drives Li-Fraumeni syndrome (LFS). Extremely high penetrance: lifetime cancer risk ~70% males / ~100% females. Core spectrum: sarcoma, breast (premenopausal), adrenocortical carcinoma, brain tumors, leukemia. Avoid therapeutic radiation when possible. STUB pending two-Co-Lead signoff.
Used By
Biomarker
BIO-TP53-CHEK2-COMPOSITE- TP53 + CHEK2 composite germline risk panel