Mutación por pérdida de función BAP1
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BIO-BAP1-MUTATION |
|---|---|
| Tipo | Biomarcador |
| Aliaces | BAP1 LOFMutación BAP1Pérdida BAP1Мутація BAP1 (втрата функції) |
| Situación | reviewed 2026-04-29 | pending_clinical_signoff |
| Enfermedades | DIS-RCC |
| Fuentes | SRC-CIVIC |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"functional_impact": "loss_of_function", "gene": "BAP1", "variant_type": "loss-of-function — frameshift / nonsense / splice / large deletion (germline BAP1 tumor predisposition syndrome or somatic)"} |
| Medición | MétodoPanel NGS detectando truncación / eclipses / eventos de CNV; BAP1 IHC (pérdida de coloración nuclear) es un tejido sustituto validado en mesotelioma + melanoma uveal Unidadescategorical (mutated / BAP1-loss | wild-type / BAP1-retained) |
| Productos químicos y químicos | Ninguna declarada |
Notas
BAP1 (BRCA1-associated protein 1) is a nuclear deubiquitinase / tumor suppressor on 3p21. Somatic loss is a major prognostic and lineage- defining lesion in two rare tumors: **Uveal melanoma (UM):** - BAP1 LOF (somatic, often biallelic via 3p loss + somatic mutation) is the dominant driver of metastatic risk. - Class 2 GEP / BAP1-loss UM: ~70-80% metastasize within 5 years (vs <10% for BAP1-retained class 1). Liver-tropic metastatic pattern. - Distinct from cutaneous melanoma: GNAQ/GNA11 are the activating drivers; BAP1 is the metastatic-risk modifier. - Tebentafusp (gp100 × CD3 ImmTAC, FDA-approved 2022 for HLA-A*02:01+ metastatic UM) is the first systemic OS-prolonging therapy; BAP1 status does not currently gate eligibility but is standard prognostic stratification. **Malignant pleural / peritoneal mesothelioma:** - BAP1 LOF in ~50-60% of mesotheliomas, frequently as part of germline BAP1 tumor predisposition syndrome (TPDS) — increased lifetime risk of mesothelioma, uveal melanoma, renal cell carcinoma, cutaneous melanocytic BAP1-inactivated tumors. - BAP1 IHC loss is part of the WHO 2021 mesothelioma diagnostic criteria (with MTAP IHC + CDKN2A FISH). - Pre-clinical: BAP1-defi...
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Relevancia terapéutica
BMA-BAP1-MUT-RCC-PROGNOSTIC- BMA-BAP1-MUT-RCC-PROGNOSTIC