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BRCA1 ou BRCA2 variante patogênica (germlina OU somática) em carc...

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IDRF-OVARIAN-BRCA-MUT-ACTIONABLE
TipoSinal de alerta
Estadoreviewed 2026-04-27 | pending_clinical_signoff
DoençasDIS-OVARIAN
FontesSRC-ESMO-OVARIAN-2024 SRC-NCCN-OVARIAN-2025 SRC-SOLO1-MOORE-2018 SRC-SOLO2-PUJADE-LAURAINE-2017

Origem da bandeira vermelha

DefiniçãoBRCA1 or BRCA2 pathogenic variant (germline OR somatic) in high-grade serous ovarian carcinoma — ~20-25% prevalence (15% germline + ~7% somatic). Olaparib maintenance after platinum-based 1L (SOLO-1 — mPFS 56.0 vs 13.8 mo BRCA-mut) is treatment-defining; rucaparib + niraparib alternatives. SOLO-2 — 2L+ relapse maintenance.
Direcção clínicaintensificar
Categoriahigh-risk-biology
Algoritmo de deslocamentosALGO-OVARIAN-ADVANCED-1L, ALGO-OVARIAN-2L

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "brca1_brca2_pathogenic",
      "value": true
    },
    {
      "finding": "brca1_status",
      "value": "pathogenic"
    },
    {
      "finding": "brca2_status",
      "value": "pathogenic"
    },
    {
      "finding": "brca1_brca2_tumor",
      "value": "pathogenic"
    },
    {
      "finding": "brca1_brca2_germline",
      "value": "pathogenic"
    }
  ],
  "type": "biomarker"
}

Notas

Tumor-tissue testing identifies somatic BRCA missed by germline-only testing — both germline (blood) AND tumor BRCA testing recommended at diagnosis for all newly diagnosed advanced ovarian. Germline finding triggers cascade testing of relatives + risk-reducing surgery counseling. Olaparib + bevacizumab (PAOLA-1) extended benefit in HRD-positive (incl. BRCA-mut) cohort. RF coexists with RF-OVARIAN-HRD-ACTIONABILITY — BRCA-mut is the BRCA-specific subset; HRD covers both BRCA + GIS-positive non-BRCA cases.

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Algoritmos

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