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Les enfants de la famille répondent aux critères suggestifs du cancer héréditaire du sein et de l'ovaire (HBOC...

Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.

IDRF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION
TypeSignal d’alerte
Étatreviewed 2026-05-18 | pending_clinical_signoff
MaladiesDIS-BREAST DIS-OVARIAN DIS-PDAC DIS-PROSTATE
SourcesSRC-ESMO-BREAST-EARLY-2024 SRC-ESMO-OVARIAN-2024 SRC-NCCN-BREAST-2025 SRC-NCCN-OVARIAN-2025

Origine du drapeau rouge

DéfinitionFamily pedigree meeting criteria suggestive of Hereditary Breast and Ovarian Cancer (HBOC) syndrome (most commonly germline BRCA1 / BRCA2 pathogenic variants; modern HBOC panels also cover PALB2, CHEK2, ATM, RAD51C/D, BRIP1): any of (a) first- or second-degree relative with a confirmed BRCA1 or BRCA2 pathogenic variant; (b) first-degree relative with breast cancer diagnosed <50y; (c) any first- or second-degree relative with high-grade serous ovarian / fallopian-tube / primary peritoneal carcinoma at any age; (d) any male breast cancer in family; (e) Ashkenazi Jewish ancestry combined with personal or family history of breast or ovarian cancer (founder-mutation prevalence — BRCA1 185delAG, BRCA1 5382insC, BRCA2 6174delT); (f) multi-cancer cluster suggestive of HBOC (breast + ovarian + pancreatic + metastatic prostate in close relatives). No current personal cancer diagnosis in the indiv...
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "family_brca_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_breast_cancer_under_50",
      "value": true
    },
    {
      "finding": "family_ovarian_cancer_any_age",
      "value": true
    },
    {
      "finding": "family_male_breast_cancer",
      "value": true
    },
    {
      "finding": "family_ashkenazi_jewish_ancestry_with_breast_or_ovarian",
      "value": true
    },
    {
      "finding": "family_breast_ovarian_pancreatic_prostate_metastatic_cluster",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

v0.2-B hereditary pilot — BRCA / HBOC. Fires on pedigree-based suspicion of HBOC syndrome in an asymptomatic individual (no current cancer diagnosis). Engine routes to PreventionPlan recommending: (a) genetic counseling + germline BRCA1/2 (+ extended HBOC panel) testing via IND-BRCA-HBOC-SUSPICION-PREVENTION-GENETIC-COUNSELING (standard) (b) empirical enhanced surveillance for patients declining testing via IND-BRCA-HBOC-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE (surveillance / alternative). Trigger criteria correspond to NCCN Genetic/Familial High-Risk: Breast, Ovarian, and Pancreatic v2.2025 testing criteria (simplified for v0.2-B pilot; production version will encode full decision logic including criteria for personal-history variants and quantitative risk-model thresholds — Tyrer-Cuzick ≥20% lifetime, BRCAPRO ≥10% mutation probability). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemption. Source-set TODO: NCCN Genetic/Familial High-Risk: Breast/Ovarian/Pancreatic as a dedicated SRC-* entity (v0.2-B follow-up authoring; license posture to verify per scope proposal open question #7). Confirmed BRCA carriers (germline mutation positive on panel) route t...

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Algorithmes

Indication

Signal d’alerte