Keimbahn PALB2-pathogene Variante
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-PALB2-GERMLINE |
|---|---|
| Art | Biomarker |
| Aliase | FANCNKeimbahn-PALB2-MutationgPALB2Зародкова патогенна варіація PALB2 |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Erkrankungen | DIS-BREAST DIS-PDAC DIS-PROSTATE |
| Quellen | SRC-CIVIC SRC-NCCN-BREAST-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"functional_impact": "loss of HRR (BRCA2-binding partner)", "gene": "PALB2", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice)"} |
| Messung | VerfahrenGermline-Multigene HRR / erblich-kanzerisches NGS-Panel auf Vollblut oder Speichel. Einheitencategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Verwandte Biomarker | BIO-BRCA-GERMLINE BIO-BRCA1-BRCA2-GERMLINE BIO-BRCA-SOMATIC BIO-ATM-CHEK2-CDK12-GERMLINE |
Anmerkungen
Distinguished from BRCA1/2 by lower clinician familiarity and a more recent inclusion in NCCN high-penetrance lists (added 2020). PARPi efficacy data is smaller-N (PROfound cohort B; case series) but biologically supported. EMBRACA was germline-BRCA-only; talazoparib in PALB2 is off-label / NCCN-2A category.
Verwendet von
Biomarker
BIO-ATM-CHEK2-CDK12-GERMLINE- Germline ATM / CHEK2 / CDK12 pathogene Variante (HRR/DDR-Verbund)BIO-BRCA-SOMATIC- Somatische BRCA1/BRCA2-pathogene Variante
Warnhinweis
RF-PAN-PALB2-PARPI-CANDIDATE- Germline PALB2 pathogene Variante — BRCA2 Rekrutierung Partner; biallelic LOF produziert eine...