Germline PALB2 pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-PALB2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | FANCNGermline PALB2 mutationgPALB2Зародкова патогенна варіація PALB2 |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-CIVIC SRC-NCCN-BREAST-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss of HRR (BRCA2-binding partner)", "gene": "PALB2", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice)"} |
| Measurement | MethodGermline multi-gene HRR / hereditary-cancer NGS panel on whole blood or saliva. Unitscategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Related biomarkers | 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.
Used By
Biomarker
BIO-ATM-CHEK2-CDK12-GERMLINE- Germline ATM / CHEK2 / CDK12 pathogenic variant (HRR/DDR composite)BIO-BRCA-SOMATIC- Somatic BRCA1/BRCA2 pathogenic variant
Red flag
RF-PAN-PALB2-PARPI-CANDIDATE- Germline PALB2 pathogenic variant — BRCA2's recruitment partner; biallelic LOF produces a...