A first-degree relative of the patient (parent, sibling, or child) has a documented posit...

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

ID	`RF-CASCADE-BRCA-FDR-POSITIVE`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-19 \| очікує клінічного підпису
Хвороби	`DIS-BREAST` `DIS-OVARIAN` `DIS-PDAC` `DIS-PROSTATE`
Джерела	`SRC-ASCO-ACMG-LYNCH-2014` `SRC-ESMO-BREAST-EARLY-2024` `SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Походження тривожної ознаки

Визначення	A first-degree relative of the patient (parent, sibling, or child) has a documented positive germline test result for BRCA1 or BRCA2 — the canonical HBOC (Hereditary Breast and Ovarian Cancer) spectrum genes. The patient themself has NOT yet been germline-tested and has no current personal cancer diagnosis. Per autosomal-dominant inheritance, the patient carries a 50% prior probability of also being a BRCA carrier — far higher than the ~5-10% positive yield of pedigree-only testing populations — providing strong clinical motivation for cascade germline testing. Distinct from RF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION (fires on pedigree pattern alone, before any relative has tested positive) and from RF-BRCA-CONFIRMED-CARRIER (fires after the patient's own positive germline test). Prevention-persona RedFlag (§20, v0.2-B cascade-testing pilot 2026-05-19).
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

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

Нотатки

v0.2-B cascade-testing pilot (2026-05-19). Fires when a first-degree relative (FDR — parent, sibling, child) of an asymptomatic patient has a confirmed positive germline test for BRCA1 or BRCA2. Engine routes to PreventionPlan recommending: (a) IND-CASCADE-BRCA-FDR-POSITIVE-TESTING (standard) — cascade BRCA1 / BRCA2 site-specific (familial-variant) testing for the patient + pre/post-test genetic counseling, with a low threshold to expand to a multi-gene HBOC panel (PALB2, CHEK2, ATM, RAD51C/D, BRIP1) if the family phenotype is suggestive of a broader hereditary contribution beyond the single relative's variant. (b) IND-CASCADE-BRCA-FDR-POSITIVE-SURVEILLANCE (alternative) — empirical enhanced surveillance per the carrier protocol (annual breast MRI from age 25, mammogram from 30, TVUS + CA-125 q6mo from 30-35 framed honestly as suboptimal) for patients who decline cascade germline testing. **50% prior probability** in autosomal-dominant inheritance (one parent heterozygous) is the cornerstone of cascade-testing cost-effectiveness — vastly outperforms pedigree-only HBOC-suspicion populations and supports the strong recommendation to test rather than rely on phenotype. STUB pending t...

Де використовується

Indications

IND-CASCADE-BRCA-FDR-POSITIVE-SURVEILLANCE - IND-CASCADE-BRCA-FDR-POSITIVE-SURVEILLANCE
IND-CASCADE-BRCA-FDR-POSITIVE-TESTING - IND-CASCADE-BRCA-FDR-POSITIVE-TESTING