Variante somatique (seulement tumorale) BRCA1 ou BRCA2 pathogène identifiée sur la tumeur NGS — pan-tumo...
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| ID | RF-PAN-BRCA-SOMATIC-PARPI-CANDIDATE |
|---|---|
| Type | Signal d’alerte |
| État | reviewed 2026-04-29 | pending_clinical_signoff |
| Maladies | DIS-BREAST DIS-OVARIAN DIS-PDAC DIS-PROSTATE |
| Sources | SRC-NCCN-BREAST-2025 SRC-NCCN-OVARIAN-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020 |
Origine du drapeau rouge
| Définition | Somatic (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). |
|---|---|
| Direction clinique | intensifier |
| Catégorie | high-risk-biology |
Logique de déclenchement
{
"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"
}
Notes
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.
Utilisé par
Chapitres du manuel
HB-OVARIAN-MAINTENANCE-1L- Advanced ovarian cancer: HRD/BRCA first-line maintenance reasoningHB-PROSTATE-MCRPC-1L- Cancer de prostate métastatique résistant à la castration : raisonnement biomarqueur et séquençage
Questions du manuel
HQ-PROSTATE-MCRPC-1L-002- HQ-PROSTATE-MCRPC-1L-002
Indication
IND-BREAST-HR-POS-MET-1L-CDKI- IND-BREAST-HR-POS-MET-1L-CDKIIND-BREAST-TNBC-METASTATIC-1L-PEMBRO-CHEMO- IND-BREAST-TNBC-METASTATIC-1L-PEMBRO-CHEMOIND-PROSTATE-MCRPC-2L-CABAZITAXEL- IND-PROSTATE-MCRPC-2L-CABAZITAXELIND-PROSTATE-MCRPC-2L-DOCETAXEL- IND-PROSTATE-MCRPC-2L-DOCETAXEL