PTEN 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-PTEN-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | PTEN 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": "PTEN", "gene_hugo_id": "HGNC:9588", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
PTEN germline — drives PTEN Hamartoma Tumor Syndrome (PHTS), encompassing Cowden syndrome. Cancer spectrum: breast (lifetime ~85%), thyroid (follicular ~35%), endometrial ~28%, RCC ~30%, CRC, melanoma. Non-cancer: macrocephaly, mucocutaneous trichilemmomas, GI hamartomas, Lhermitte-Duclos. NCCN: annual breast MRI from 30, dermatologic + thyroid US + endometrial sampling. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.