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Pedigree familiar que cumpre critérios sugestivos de Câncer de mama e ovário hereditários (HBOC...

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IDRF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION
TipoSinal de alerta
Estadoreviewed 2026-05-18 | pending_clinical_signoff
DoençasDIS-BREAST DIS-OVARIAN DIS-PDAC DIS-PROSTATE
FontesSRC-ESMO-BREAST-EARLY-2024 SRC-ESMO-OVARIAN-2024 SRC-NCCN-BREAST-2025 SRC-NCCN-OVARIAN-2025

Origem da bandeira vermelha

DefiniçãoFamily 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...
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

{
  "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"
}

Notas

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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Algoritmos

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