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

Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.

ID	`RF-LYNCH-FAMILY-HISTORY-SUSPICION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-18 \| очікує клінічного підпису
Хвороби	`DIS-CRC` `DIS-ENDOMETRIAL` `DIS-GASTRIC` `DIS-OVARIAN` `DIS-PDAC` `DIS-PROSTATE` `DIS-UROTHELIAL`
Джерела	`SRC-ESGO-ENDOMETRIAL-2025` `SRC-ESMO-CRC-2024` `SRC-ESMO-ENDOMETRIAL-2022`

Походження тривожної ознаки

Визначення	Family 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).
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "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"
}

Нотатки

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...

Де використовується

Algorithms

ALGO-AMSTERDAM-II-LYNCH - ALGO-AMSTERDAM-II-LYNCH
ALGO-MMRPRO - ALGO-MMRPRO
ALGO-PREMM5-LYNCH - ALGO-PREMM5-LYNCH
ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW - ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW
ALGO-REVISED-BETHESDA-LYNCH - ALGO-REVISED-BETHESDA-LYNCH

Indications

IND-LYNCH-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE - IND-LYNCH-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE
IND-LYNCH-SUSPICION-PREVENTION-GENETIC-COUNSELING - IND-LYNCH-SUSPICION-PREVENTION-GENETIC-COUNSELING
IND-UNIVERSAL-FIRST-DEGREE-CANCER-FAMILY-PREVENTION-COUNSELING - IND-UNIVERSAL-FIRST-DEGREE-CANCER-FAMILY-PREVENTION-COUNSELING

Тривожна ознака

RF-LYNCH-CONFIRMED-CARRIER - Confirmed germline pathogenic / likely-pathogenic variant in a Lynch syndrome (MMR / EPCA...