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Family pedigree meeting criteria suggestive of hereditary nonpolyposis colorectal cancer...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

IDRF-LYNCH-FAMILY-HISTORY-SUSPICION
TypeRed flag
Statusreviewed 2026-05-18 | pending_clinical_signoff
DiseasesDIS-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

Red Flag Origin

DefinitionFamily 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).
Clinical directioninvestigate
Categoryother

Trigger Logic

{
  "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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