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Génigree familiale répondant aux critères suggestifs de cancer colorectal héréditaire non polypose...

Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.

IDRF-LYNCH-FAMILY-HISTORY-SUSPICION
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-ESGO-ENDOMETRIAL-2025 SRC-ESMO-CRC-2024 SRC-ESMO-ENDOMETRIAL-2022

Origine du drapeau rouge

DéfinitionFamily pedigree meeting criteria suggestive of hereditary nonpolyposis colorectal cancer (HNPCC) / Lynch syndrome: any of (a) Amsterdam II criteria — ≥3 relatives with Lynch-spectrum cancer (CRC, endometrial, small bowel, urothelial, hepatobiliary, brain, sebaceous skin), spanning ≥2 generations, with ≥1 first-degree relative and ≥1 diagnosis <50y; (b) revised Bethesda criteria; (c) PREMM5 model ≥2.5%; or (d) first-degree relative with Lynch-spectrum cancer diagnosed <50. No current personal cancer diagnosis in the individual at risk. Prevention-persona RedFlag (§20 ratification 2026-05-18, v0.2-B hereditary pilot starter).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "family_amsterdam_ii_criteria_met",
      "value": true
    },
    {
      "finding": "family_revised_bethesda_criteria_met",
      "value": true
    },
    {
      "finding": "family_premm5_score_ge_2_5pct",
      "value": true
    },
    {
      "finding": "family_first_degree_lynch_spectrum_under_50",
      "value": true
    },
    {
      "finding": "family_two_lynch_spectrum_first_or_second_degree",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B hereditary pilot starter. Fires on pedigree-based suspicion of Lynch syndrome / HNPCC in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline MMR/EPCAM panel testing via IND-LYNCH-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) enhanced empirical surveillance for patients declining testing via IND-LYNCH-SUSPICION-PREVENTION-ENHANCED- SURVEILLANCE (alternative). Triggers correspond to established Lynch-suspicion criteria (Amsterdam II, revised Bethesda, PREMM5 ≥2.5%, single-relative <50 bright-line). Patient profile is expected to carry these as computed booleans from the pedigree input (FHIR FamilyMemberHistory at the data-standards layer; computation is a downstream concern not yet implemented). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: NCCN Genetic/Familial High-Risk: Colorectal/Endometrial (license posture to verify per scope proposal open question #7); ACMG Lynch testing guidance. Confirmed Lynch carriers (germline mutation positive on panel) route to a DIFFERENT prevention pathway (carrier-confirmed surveillance — colonoscopy...

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Indication

Signal d’alerte