Familial Pancreatic Cancer (FPC) — operational definition: an individual with ≥2 first-de...

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

ID	`RF-FAMILIAL-PANCREATIC-CANCER-SYNDROME`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-20 \| очікує клінічного підпису
Хвороби	`DIS-PDAC`
Джерела	`SRC-CANTO-CAPS-2018` `SRC-CAPS-CONSORTIUM-PANCREATIC-2020` `SRC-NCCN-PANCREATIC-2025`

Походження тривожної ознаки

Визначення	Familial Pancreatic Cancer (FPC) — operational definition: an individual with ≥2 first-degree relatives diagnosed with pancreatic ductal adenocarcinoma (PDAC), in the absence of a confirmed germline pathogenic variant in a known PDAC-susceptibility gene (BRCA1, BRCA2, PALB2, ATM, CDKN2A, STK11/Peutz-Jeghers, MLH1/MSH2/MSH6/PMS2/Lynch, TP53/Li-Fraumeni, PRSS1/SPINK1 hereditary pancreatitis). Negative expanded hereditary-cancer panel + ≥2-FDR PDAC family history satisfies the criterion. Lifetime PDAC risk for FPC kindreds is estimated at ~7-16% (vs. ~1.6% population baseline); risk scales with number of affected FDRs (2 FDR ~7%, 3+ FDR ~16-32%). CAPS Consortium 2020 + NCCN Pancreatic 2025 endorse pancreatic surveillance with annual MRI/MRCP and/or EUS in FPC kindreds starting age 50 (or 10y before youngest familial diagnosis). Prevention-persona RedFlag — distinct from RF-CHRONIC- PANCREA...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "family_pancreatic_cancer_fdr_two_or_more",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.3 wave-N niche pathway — Familial Pancreatic Cancer (FPC). Fires on documented ≥2-FDR PDAC family history AFTER negative expanded hereditary-cancer panel (BRCA1, BRCA2, PALB2, ATM, CDKN2A, STK11, Lynch MMR genes, TP53, PRSS1/SPINK1). The negative-panel requirement is essential — patients positive for any of those genes are routed via the corresponding confirmed-carrier RF (which carry their own well-defined surveillance recommendations) rather than through FPC. Severity is `critical` rather than `major` because: 1. Lifetime PDAC risk in 3+ FDR FPC kindreds (~16-32%) approaches BRCA2-carrier PDAC risk (~5-10%) and substantially exceeds population baseline (~1.6%). 2. PDAC carries the worst 5-year OS (~12% overall, ~3% in late- stage disease) of any common cancer — surveillance-detected early-stage disease offers the best (and arguably only) chance at meaningful long-term survival. 3. The clinical action window is narrow — pancreatic surveillance requires referral to an experienced center, and missed surveillance opportunities are difficult to recover. Engine routes to PreventionPlan recommending: (a) IND-FPC-PANCREATIC-SURVEILLANCE (standard) — annual MRI/MRCP + EUS alternating...

Де використовується

Indications

IND-FPC-PANCREATIC-OBSERVATION - IND-FPC-PANCREATIC-OBSERVATION
IND-FPC-PANCREATIC-SURVEILLANCE - IND-FPC-PANCREATIC-SURVEILLANCE