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BRCA1 ou BRCA2 variante pathogène (germline OU somatique) dans la carc...

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-OVARIAN-BRCA-MUT-ACTIONABLE
TypeSignal d’alerte
Étatreviewed 2026-04-27 | pending_clinical_signoff
MaladiesDIS-OVARIAN
SourcesSRC-ESMO-OVARIAN-2024 SRC-NCCN-OVARIAN-2025 SRC-SOLO1-MOORE-2018 SRC-SOLO2-PUJADE-LAURAINE-2017

Origine du drapeau rouge

DéfinitionBRCA1 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.
Direction cliniqueintensifier
Catégoriehigh-risk-biology
Algorithme de décalageALGO-OVARIAN-ADVANCED-1L, ALGO-OVARIAN-2L

Logique de déclenchement

{
  "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"
}

Notes

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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Signal d’alerte