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Variante pathogène/pathogène probable confirmée dans le BARD1 (BRCA1-associée RING...

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-BARD1-CONFIRMED-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-19 | pending_clinical_signoff
MaladiesDIS-BREAST DIS-OVARIAN
SourcesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025

Origine du drapeau rouge

DéfinitionConfirmed germline pathogenic / likely-pathogenic variant in BARD1 (BRCA1-associated RING domain 1) — partner of BRCA1 in the BRCA1- BARD1 heterodimer essential for homologous-recombination repair. Heterozygous BARD1 carriers have moderate-penetrance breast cancer risk (RR ~2.0-3.0; lifetime ~20-30%; some evidence higher in triple- negative breast cancer subset). Modest ovarian cancer risk signal (RR ~1.5-2.0). Less common multi-gene panel finding (~0.2-0.3% of unselected breast cancer cohorts). Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 moderate- penetrance breast/ovarian gene expansion).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "germline_bard1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_bard1_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona RedFlag for BARD1 heterozygous carriers. Engine routes to enhanced breast surveillance + ovarian symptom-driven workup. NCCN places BARD1 in moderate-elevated breast tier (annual mammography from age 40; consider MRI). Triple-negative subset signal may justify earlier or MRI-inclusive screening in family- history-stratified cohorts. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Utilisé par

Indication

Signal d’alerte