EPCAM germline deletion silences MSH2 → Lynch syndrome with dMMR endometrial cancer pheno...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BMA-EPCAM-GERMLINE-ENDOMETRIAL |
|---|---|
| Type | Actionability |
| Status | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Diseases | DIS-ENDOMETRIAL |
| Sources | SRC-CIVIC SRC-ESGO-ENDOMETRIAL-2025 SRC-NCCN-UTERINE-2025 |
Actionability Facts
| Biomarker | BIO-DMMR-IHC |
|---|---|
| Variant | EPCAM germline 3' deletion (silences MSH2 by promoter methylation) → Lynch |
| Disease | DIS-ENDOMETRIAL |
| ESCAT tier | IA |
| Recommended combinations | dostarlimab + carbo/paclitaxel (1L, RUBY), pembrolizumab + chemo (NRG-GY018), dostarlimab monotherapy (2L+ dMMR) |
| Evidence summary | EPCAM germline deletion silences MSH2 → Lynch syndrome with dMMR endometrial cancer phenotype. Treat as MSH2-equivalent: dostarlimab + chemo 1L (RUBY); pan-tumor MSI-H ICI applies. ESCAT IA / OncoKB Level 1. |
Notes
EPCAM-Lynch is rarer than MLH1/MSH2/MSH6/PMS2 Lynch (~1-3% of Lynch cases). Cascade testing mandatory; family-line implications identical to MSH2 Lynch. Pan-tumor MSI-H ICI eligibility supersedes tumor-specific lines.
Used By
No reverse references found in the YAML corpus.