PMS2 germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-PMS2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | PMS2 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ESMO-CRC-2024 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "PMS2", "gene_hugo_id": "HGNC:9122", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
PMS2 germline — lowest-penetrance Lynch gene. CRC ~15-20%, endometrial ~15%. Pseudogene PMS2CL makes sequencing technically challenging. STUB.
Used By
No reverse references found in the YAML corpus.