BRCA1 or BRCA2 pathogenic variant (germline OR somatic) in high-grade serous ovarian carc...

Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.

ID	`RF-OVARIAN-BRCA-MUT-ACTIONABLE`
Тип	Тривожна ознака
Статус	переглянуто 2026-04-27 \| очікує клінічного підпису
Хвороби	`DIS-OVARIAN`
Джерела	`SRC-ESMO-OVARIAN-2024` `SRC-NCCN-OVARIAN-2025` `SRC-SOLO1-MOORE-2018` `SRC-SOLO2-PUJADE-LAURAINE-2017`

Походження тривожної ознаки

Визначення	BRCA1 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.
Клінічний напрям	intensify
Категорія	high-risk-biology
Змінює алгоритм	ALGO-OVARIAN-ADVANCED-1L, ALGO-OVARIAN-2L

Логіка спрацьовування

{
  "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"
}

Нотатки

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.

Де використовується

Algorithms

ALGO-OVARIAN-2L - ALGO-OVARIAN-2L
ALGO-OVARIAN-ADVANCED-1L - ALGO-OVARIAN-ADVANCED-1L

Тривожна ознака

RF-OVARIAN-HRD-POSITIVE-ACTIONABLE - Homologous Recombination Deficiency (HRD)-positive high-grade serous ovarian carcinoma (B...
RF-PAN-BRCA-SOMATIC-PARPI-CANDIDATE - Somatic (tumor-only) BRCA1 or BRCA2 pathogenic variant identified on tumor NGS — pan-tumo...