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Variante pathogène/pathogène probable confirmée dans un syndrome de Lynch (RMM/EPCA...

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IDRF-LYNCH-CONFIRMED-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-18 | pending_clinical_signoff
MaladiesDIS-CRC DIS-ENDOMETRIAL DIS-GASTRIC DIS-OVARIAN DIS-PDAC DIS-PROSTATE DIS-UROTHELIAL
SourcesSRC-ASCO-ACMG-LYNCH-2014 SRC-ESGO-ENDOMETRIAL-2025 SRC-ESMO-CRC-2024 SRC-NCCN-GENETIC-FAMILIAL-CRC-2025

Origine du drapeau rouge

DéfinitionConfirmed germline pathogenic / likely-pathogenic variant in a Lynch syndrome (MMR / EPCAM) gene — MLH1, MSH2, MSH6, PMS2, or EPCAM (3' deletion silencing MSH2). Patient has had a germline test returned positive; the family-history-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed (current cancer diagnosis routes to treatment-track plan with carrier status recorded for tailored systemic / surgical decisions). Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from the family-history-suspicion pathway in RF-LYNCH-FAMILY-HISTORY-SUSPICION which fires before testing).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "germline_mlh1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_msh2_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_msh6_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_pms2_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_epcam_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B confirmed-carrier surveillance pathway — Lynch syndrome. Fires on documented germline MMR / EPCAM pathogenic variant positivity in an asymptomatic individual. Engine routes to PreventionPlan recommending: (a) IND-LYNCH-CARRIER-SURVEILLANCE (standard) — NCCN Genetic / Familial High-Risk: Colorectal carrier surveillance protocol (colonoscopy q1-2y from 25 or 10y before youngest family CRC; endometrial sampling + TVUS q1-2y from 30-35 in women; annual urinalysis; EGD q3-5y from 40; pancreatic surveillance discussion when ≥2 affected first-degree relatives) (b) IND-LYNCH-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS discussion of prophylactic hysterectomy / BSO post-childbearing age 40 (women) and daily aspirin per CAPP2 trial (gene-aware: stronger effect documented in MLH1 / MSH2 carriers). Triggers correspond to a positive germline panel result (variant classification per ACMG framework — pathogenic / likely pathogenic; VUS results route back to the family-history-suspicion pathway via RF-LYNCH-FAMILY-HISTORY-SUSPICION pending segregation or functional studies). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Penetrance reference (NC...

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Algorithmes

Indication

Signal d’alerte