EPCAM germline 3' deletion (MSH2 silencing)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-EPCAM-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | EPCAM germline 3' deletionEPCAM germline делеція 3' (MSH2 silencing) |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ASCO-ACMG-LYNCH-2014 SRC-ESMO-CRC-2024 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "EPCAM", "gene_hugo_id": "HGNC:11529", "variant_type": "large_deletion"} |
| Related biomarkers | None declared |
Notes
EPCAM germline 3' deletions cause Lynch syndrome via epigenetic silencing of MSH2 (immediately downstream). CRC penetrance similar to MSH2 (~50-70%); endometrial cancer risk lower than MSH2 because silencing is tissue-restricted. Test required when MSH2-IHC loss is found but no MSH2 sequence variant identified. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.