POLD1 germline pathogenic variant (proofreading domain)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-POLD1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | POLD1 germline pathogenic variantPOLD1 germline патогенний варіант (proofreading-домен) |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-CRC |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-CRC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "POLD1", "gene_hugo_id": "HGNC:9175", "variant_type": "missense_or_truncating"} |
| Related biomarkers | BIO-POLD1-HYPERMUTATOR |
Notes
POLD1 germline (exonuclease / proofreading-domain variants) — drives Polymerase-Proofreading-Associated Polyposis (PPAP), mechanistically analogous to POLE-PPAP. Autosomal dominant; oligopolyposis + early-onset CRC + endometrial cancer (higher endometrial penetrance than POLE-PPAP). Tumors ultramutated; potential ICI sensitivity. Surveillance: colonoscopy q1-2y from late teens; endometrial sampling from 40. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-POLD1-GERMLINE-POLYMERASE-PROOFREADING- POLD1 germline pathogenic variants in the exonuclease (proofreading) domain cause PPAP —...