Family pedigree suggestive of Familial Adenomatous Polyposis (FAP) or the attenuated FAP...

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

ID	`RF-FAP-FAMILY-HISTORY-SUSPICION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-18 \| очікує клінічного підпису
Хвороби	`DIS-CRC` `DIS-GASTRIC` `DIS-PDAC` `DIS-PROSTATE`
Джерела	`SRC-ESMO-CRC-2024` `SRC-NCCN-COLON-2025`

Походження тривожної ознаки

Визначення	Family pedigree suggestive of Familial Adenomatous Polyposis (FAP) or the attenuated FAP (AFAP) / Gardner-variant spectrum: any of (a) a family member with a known pathogenic APC variant; (b) classic FAP phenotype — >100 colorectal adenomatous polyps in the proband or a first/second-degree relative; (c) attenuated FAP phenotype — 10-100 colorectal adenomas in a relative plus family history of CRC under 60; (d) first-degree relative with a confirmed clinical FAP diagnosis; (e) family member with extracolonic FAP / Gardner manifestations (osteomas, epidermoid cysts, congenital hypertrophy of the retinal pigment epithelium [CHRPE], or desmoid tumors). 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_apc_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_classic_fap_phenotype",
      "value": true
    },
    {
      "finding": "family_attenuated_fap_phenotype",
      "value": true
    },
    {
      "finding": "family_first_degree_fap_diagnosed_relative",
      "value": true
    },
    {
      "finding": "family_desmoid_tumor_or_extracolonic_fap_manifestations",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B hereditary pilot — FAP. Fires on pedigree-based suspicion of FAP / AFAP / Gardner-variant in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline APC panel testing (modern multi-gene panels include MUTYH for MAP differential — note that MUTYH-associated polyposis is autosomal recessive vs autosomal-dominant FAP) via IND-FAP-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical enhanced surveillance for patients declining testing via IND-FAP-SUSPICION-PREVENTION-ENHANCED- SURVEILLANCE (alternative). Triggers correspond to established FAP-suspicion criteria. 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 as a new SRC entity (per scope proposal open question #7 on license posture); American College of Gastroenterology FAP surveillance guidance. Confirmed APC carriers (germline mutation positive...

Де використовується

Algorithms

ALGO-CLASSIC-FAP-CRITERIA - ALGO-CLASSIC-FAP-CRITERIA
ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW - ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW

Indications

IND-FAP-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE - IND-FAP-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE
IND-FAP-SUSPICION-PREVENTION-GENETIC-COUNSELING - IND-FAP-SUSPICION-PREVENTION-GENETIC-COUNSELING