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Confirmado germinal patogênica / provável patogénica variante em BRCA1 ou BRCA2 — o canônico...

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IDRF-BRCA-CONFIRMED-CARRIER
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-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025

Origem da bandeira vermelha

DefiniçãoConfirmed 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).
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

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

Notas

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...

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Algoritmos

Indicação

Sinal de alerta