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Somática (apenas tumor) BRCA1 ou BRCA2 variante patogênica identificada no tumor NGS — pan-tumo...

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IDRF-PAN-BRCA-SOMATIC-PARPI-CANDIDATE
TipoSinal de alerta
Estadoreviewed 2026-04-29 | pending_clinical_signoff
DoençasDIS-BREAST DIS-OVARIAN DIS-PDAC DIS-PROSTATE
FontesSRC-NCCN-BREAST-2025 SRC-NCCN-OVARIAN-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020

Origem da bandeira vermelha

DefiniçãoSomatic (tumor-only) BRCA1 or BRCA2 pathogenic variant identified on tumor NGS — pan-tumor PARPi-candidate signal. Disease applicability varies: ovarian (PAOLA-1, SOLO-1 — somatic BRCA pooled with germline in HRD-positive maintenance indication), mCRPC (PROfound cohort-A — olaparib mPFS 7.4 vs 3.6 mo, HR 0.34, somatic + germline pooled), pancreatic PDAC (POLO label is germline-only — somatic BRCA falls to off-label / NCCN "consider" tier), breast (OlympiAD / EMBRACA / OlympiA labels are germline-only — somatic BRCA breast remains investigational). Confirm somatic vs germline status via paired germline NGS before cascade-testing decisions (~40% of tumor-only "BRCA" calls are in fact germline per ASCO/CAP guidance).
Direcção clínicaintensificar
Categoriahigh-risk-biology

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "brca1_brca2_somatic",
      "value": "pathogenic"
    },
    {
      "finding": "brca1_somatic",
      "value": "pathogenic"
    },
    {
      "finding": "brca2_somatic",
      "value": "pathogenic"
    },
    {
      "finding": "brca_tumor_status",
      "value": "somatic_pathogenic"
    },
    {
      "finding": "tumor_brca_pathogenic",
      "value": true
    }
  ],
  "type": "biomarker"
}

Notas

Distinct trigger keys from RF-OVARIAN-BRCA-MUT-ACTIONABLE and RF-PROSTATE-HIGH-RISK-BIOLOGY to avoid double-firing on germline cases — this RF keys specifically on "*_somatic" / "tumor_*" findings. Breast included as informational (no shifts_algorithm wiring on ALGO-BREAST-* since label is germline-only); somatic BRCA in PDAC also weak-evidence — flagged for MDT discussion rather than algorithm-shifting. References BIO-BRCA-SOMATIC.

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