Germline CDH1 pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-CDH1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | E-cadherin germline mutationGermline CDH1 mutation (HDGC syndrome)HDGCgCDH1Зародкова патогенна варіація CDH1 |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-CIVIC SRC-NCCN-BREAST-2025 SRC-NCCN-GASTRIC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss of E-cadherin — cell-adhesion failure → diffuse-pattern epithelial cancers", "gene": "CDH1", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice, large deletions)"} |
| Measurement | MethodGermline multi-gene hereditary-cancer NGS panel on whole blood or saliva. Large-deletion / MLPA testing required (single-exon and whole-gene deletions are recurrent and missed by short-read NGS alone). Unitscategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Related biomarkers | BIO-BRCA-GERMLINE BIO-BRCA1-BRCA2-GERMLINE |
Notes
Surveillance / prophylaxis biomarker — not a therapy-selection biomarker in v0.1. Engine should surface CDH1+ status under "hereditary syndrome — referral to genetics" rather than treatment branches. Lobular breast subtype + family history of diffuse gastric cancer is a strong testing trigger even without other red flags.
Used By
Red flag
RF-BREAST-CDH1-LOBULAR-CANDIDATE- Germline CDH1 (E-cadherin) pathogenic variant in invasive lobular breast carcinoma — INFO...