Confirmed germline pathogenic / likely-pathogenic variant in the CDKN2A (p16-INK4a) gene...

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

ID	`RF-FAMMM-CONFIRMED-CARRIER`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-18 \| очікує клінічного підпису
Хвороби	`DIS-MELANOMA` `DIS-PDAC`
Джерела	`SRC-NCCN-BCELL-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Походження тривожної ознаки

Визначення	Confirmed germline pathogenic / likely-pathogenic variant in the CDKN2A (p16-INK4a) gene — Familial Atypical Multiple Mole Melanoma syndrome (FAMMM). Patient has had germline CDKN2A testing returned positive; the pedigree-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed. Mandates structured surveillance: lifetime melanoma risk ~60-80% (cutaneous, occasionally ocular) and pancreatic adenocarcinoma risk ~15-25% (CDKN2A is one of few hereditary syndromes with sufficient absolute pancreatic-cancer risk to justify CAPS Consortium-eligible surveillance). Prevention-persona RedFlag (§20, v0.2-B confirmed- carrier surveillance pathway — distinct from RF-FAMMM-FAMILY-HISTORY- SUSPICION which fires before testing).
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "germline_cdkn2a_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B confirmed-carrier surveillance pathway — FAMMM / CDKN2A. Fires on documented germline CDKN2A pathogenic variant positivity. Engine routes to PreventionPlan recommending: (a) IND-FAMMM-CARRIER-SURVEILLANCE (standard) — annual whole-body skin exam by dermatologist + total body photography + dermoscopy; pancreatic surveillance EUS / MRI q1-2y from age 40 (CAPS Consortium-eligible); sun-protection counseling; family cascade testing offered. (b) IND-FAMMM-CARRIER-INTENSIFIED (aggressive) — standard PLUS earlier pancreatic surveillance initiation (age 30-35 if smoker or family pancreatic cancer < 50) + intensified sun-avoidance program (avoidance + structural barriers + chemoprotection adjuncts). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: dedicated CDKN2A surveillance source — Goldstein et al. melanoma-pancreas family registry recommendations; CAPS Consortium pancreatic-cancer surveillance consensus (Goggins et al. Gut 2020). Lifetime cancer risk in confirmed CDKN2A carriers (Goldstein et al. J Med Genet 2007; updated estimates): - Cutaneous melanoma: ~60-80% lifetime; often multiple primaries across lifetime - Pancreatic adeno...

Де використовується

Algorithms

ALGO-HEREDITARY-MELANOMA-SURVEILLANCE - ALGO-HEREDITARY-MELANOMA-SURVEILLANCE
ALGO-NCCN-PANCREATIC-CAPS-SURVEILLANCE - ALGO-NCCN-PANCREATIC-CAPS-SURVEILLANCE

Indications

IND-FAMMM-CARRIER-INTENSIFIED - IND-FAMMM-CARRIER-INTENSIFIED
IND-FAMMM-CARRIER-SURVEILLANCE - IND-FAMMM-CARRIER-SURVEILLANCE