PTCH1 germline pathogenic variant
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BIO-PTCH1-GERMLINE |
|---|---|
| Type | Biomarqueur |
| Alias | PTCH1 germline патогенний варіант |
| État | reviewed 2026-05-18 | pending_clinical_signoff |
| Maladies | DIS-BCC |
| Sources | SRC-NCCN-SKIN-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"functional_impact": "loss_of_function", "gene": "PTCH1", "gene_hugo_id": "HGNC:9585", "variant_type": "missense_or_truncating"} |
| Biomarqueurs connexes | BIO-PTCH1 |
Notes
PTCH1 germline — drives Gorlin / Nevoid Basal Cell Carcinoma Syndrome (NBCCS). Hedgehog-pathway dysregulation. Hallmarks: multiple BCCs (often early-onset, sun-protected areas), odontogenic keratocysts of jaw, palmar/plantar pits, macrocephaly, calcified falx cerebri, skeletal anomalies (bifid ribs), childhood medulloblastoma (SHH-subtype, ~5%). AVOID therapeutic radiation when feasible — radiation drives BCC formation. Smoothened inhibitors (vismodegib, sonidegib) for advanced BCC. STUB pending two-Co-Lead signoff.
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Pertinence thérapeutique
BMA-PTCH1-GERMLINE-NBCCS-GORLIN- PTCH1 germline pathogenic variants cause Nevoid Basal Cell Carcinoma Syndrome (NBCCS / Go...