DICER1 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-DICER1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | DICER1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-OVARIAN |
| Sources | SRC-NCCN-PEDIATRIC-SARCOMA |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "DICER1", "gene_hugo_id": "HGNC:17098", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
DICER1 germline — drives DICER1 syndrome. miRNA biogenesis defect. Spectrum: pleuropulmonary blastoma (PPB, type I/II/III pediatric), ovarian Sertoli-Leydig cell tumor, multinodular goitre / differentiated thyroid carcinoma, cystic nephroma, embryonal rhabdomyosarcoma (cervix/uterus), ciliary-body medulloepithelioma, pituitary blastoma, pineoblastoma. Surveillance: chest CT (infancy), thyroid US, pelvic US, eye exams. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-DICER1-GERMLINE-PLEUROPULMONARY-BLASTOMA- DICER1 germline pathogenic variants cause DICER1 tumor predisposition syndrome — broad sp...