Lynch syndrome germline panel — gene-resolved (MLH1 / MSH2 / MSH6 / PMS2 / EPCAM)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-LYNCH-PANEL-SPLIT |
|---|---|
| Type | Biomarker |
| Aliases | HNPCC germlineLynch germlineLynch syndrome germline panel — gene-specific resultgermline MMRГермінальна Lynch-панель — з розшифровкою гена (MLH1 / MSH2 / MSH6 / PMS2 / EPCAM) |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-CIVIC SRC-NCCN-COLON-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "germline mismatch-repair deficiency", "gene": "MLH1, MSH2, MSH6, PMS2, EPCAM", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice, large deletions); EPCAM 3' deletions silence MSH2"} |
| Measurement | MethodGermline multi-gene hereditary-cancer NGS panel on whole blood / saliva, with MLPA or equivalent for large rearrangements (PMS2 has high pseudogene homology — specialty assays required to distinguish gene from PMS2P pseudogenes). Unitscategorical per gene: pathogenic | likely_pathogenic | VUS | benign | absent |
| Related biomarkers | BIO-DMMR-IHC BIO-MSI-STATUS BIO-TMB-HIGH |
Notes
Surveillance / cascade-testing biomarker. v0.1 grouping is a single composite entry to mirror BIO-DMMR-IHC / BIO-MSI-STATUS at the same resolution; the gene-resolved field carries the actual gene called. If the engine needs to branch on MLH1 vs MSH6 (e.g., gene-specific surveillance starting age, gene-specific colorectal cancer risk tiers), split into BIO-MLH1-GERMLINE / BIO-MSH2-GERMLINE / etc. in a follow-on chunk. Cascade-testing recommendation is uniform across the five genes; differentiation kicks in at surveillance cadence and risk counseling.
Used By
No reverse references found in the YAML corpus.