RB1 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-RB1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | RB1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-RETINOBLASTOMA |
| Sources | SRC-NCCN-PEDIATRIC-SARCOMA |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "RB1", "gene_hugo_id": "HGNC:9884", "variant_type": "missense_or_truncating"} |
| Related biomarkers | BIO-RB1 |
Notes
RB1 germline — drives hereditary retinoblastoma (~40% of all retinoblastoma; bilateral/multifocal). Mean age at diagnosis ~1 year. Second-primary risk lifelong: osteosarcoma (especially after radiotherapy), soft-tissue sarcoma, melanoma, SCLC. Avoid external-beam radiation when feasible. Surveillance: ophthalmologic exam under anaesthesia every 1-3 months in infancy; long-term sarcoma surveillance. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-RB1-GERMLINE-RETINOBLASTOMA- RB1 germline pathogenic variants cause heritable retinoblastoma (~40% of retinoblastoma c...