Variante pathogène Germline PALB2
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-PALB2-GERMLINE |
|---|---|
| Type | Biomarqueur |
| Alias | FANCNMutation Germline PALB2GPALB2Зародкова патогенна варіація PALB2 |
| État | reviewed 2026-04-29 | pending_clinical_signoff |
| Maladies | DIS-BREAST DIS-PDAC DIS-PROSTATE |
| Sources | SRC-CIVIC SRC-NCCN-BREAST-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"functional_impact": "loss of HRR (BRCA2-binding partner)", "gene": "PALB2", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice)"} |
| Mesure | MéthodeGermline multi-gene HRR / hereditary-cancer NGS panel on whole blood or saliva. Unitéscategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Biomarqueurs connexes | BIO-BRCA-GERMLINE BIO-BRCA1-BRCA2-GERMLINE BIO-BRCA-SOMATIC BIO-ATM-CHEK2-CDK12-GERMLINE |
Notes
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.
Utilisé par
Biomarqueur
BIO-ATM-CHEK2-CDK12-GERMLINE- Germline ATM / CHEK2 / CDK12 variante pathogène (composite HRR/DDR)BIO-BRCA-SOMATIC- Variante somatique pathogène BRCA1/BRCA2
Signal d’alerte
RF-PAN-PALB2-PARPI-CANDIDATE- Germline PALB2 variante pathogène — partenaire de recrutement de BRCA2; LOF biallélique produit...