Confirmed germline pathogenic / likely-pathogenic variant in BRCA1 or BRCA2 — the canonic...

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

ID	`RF-BRCA-CONFIRMED-CARRIER`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-18 \| очікує клінічного підпису
Хвороби	`DIS-BREAST` `DIS-OVARIAN` `DIS-PDAC` `DIS-PROSTATE`
Джерела	`SRC-ESMO-BREAST-EARLY-2024` `SRC-ESMO-OVARIAN-2024` `SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025` `SRC-NCCN-OVARIAN-2025`

Походження тривожної ознаки

Визначення	Confirmed germline pathogenic / likely-pathogenic variant in BRCA1 or BRCA2 — the canonical HBOC (Hereditary Breast and Ovarian Cancer) spectrum genes. Patient has had a germline test returned positive; the family-history-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed (current cancer diagnosis routes to treatment-track plan with carrier status driving systemic-therapy selection — PARP inhibitor consideration, platinum sensitivity, RRM / RRSO interaction). Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from the family-history-suspicion pathway in RF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION which fires before testing).
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "germline_brca1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_brca2_pathogenic_variant_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.2-B confirmed-carrier surveillance pathway — BRCA1 / BRCA2. Fires on documented germline BRCA pathogenic variant positivity in an asymptomatic individual. Engine routes to PreventionPlan recommending: (a) IND-BRCA-CARRIER-SURVEILLANCE (standard) — NCCN Genetic / Familial High-Risk: Breast, Ovarian, Pancreatic carrier surveillance protocol (annual breast MRI from age 25 alternating with mammogram from 30; clinical breast exam q6mo; TVUS + CA-125 q6mo from age 30-35 framed honestly as suboptimal; PSA + DRE for BRCA2 men from 40) (b) IND-BRCA-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS discussion of risk-reducing mastectomy (RRM) age 25-30 (BRCA1 > BRCA2 urgency) AND risk-reducing BSO (RRSO) age 35-40 (BRCA1) / 40-45 (BRCA2) post-childbearing. Triggers correspond to a positive germline panel result (variant classification per ACMG framework — pathogenic / likely pathogenic). PALB2, CHEK2, ATM, RAD51C/D, BRIP1 confirmed carriers receive distinct (gene-specific) protocols and would be authored as separate confirmed-carrier RFs in future v0.2-B iterations (out of scope here per task allowlist). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemptio...

Де використовується

Algorithms

ALGO-HEREDITARY-PROSTATE-CANCER-RISK - ALGO-HEREDITARY-PROSTATE-CANCER-RISK
ALGO-NCCN-PANCREATIC-CAPS-SURVEILLANCE - ALGO-NCCN-PANCREATIC-CAPS-SURVEILLANCE
ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW - ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW

Indications

IND-BRCA-CARRIER-INTENSIFIED - IND-BRCA-CARRIER-INTENSIFIED
IND-BRCA-CARRIER-SURVEILLANCE - IND-BRCA-CARRIER-SURVEILLANCE

Тривожна ознака

RF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION - Family pedigree meeting criteria suggestive of Hereditary Breast and Ovarian Cancer (HBOC...