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Variante pathogène/pathogène probable confirmée dans le BRIP1 (BRCA1-interaction pro...

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-BRIP1-CONFIRMED-CARRIER
TypeSignal d’alerte
Étatreviewed 2026-05-19 | pending_clinical_signoff
MaladiesDIS-OVARIAN
SourcesSRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025

Origine du drapeau rouge

DéfinitionConfirmed germline pathogenic / likely-pathogenic variant in BRIP1 (BRCA1-interacting protein 1, also FANCJ). Heterozygous BRIP1 carriers have established moderate-penetrance ovarian cancer risk (RR ~3.0; lifetime ~5-15%; sufficient for NCCN-endorsed risk-reducing salpingo- oophorectomy discussion at completed childbearing or age 45-50). Possible modest breast cancer signal (controversial; current NCCN does not include BRIP1 in elevated breast tier). Biallelic BRIP1 is the autosomal-recessive Fanconi anemia complementation group J phenotype, distinct from the cancer-predisposition carrier state here. Less common multi-gene panel finding (~0.2-0.5% unselected ovarian 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 ovarian gene expansion).
Direction cliniqueenquêter
Catégorieautres

Logique de déclenchement

{
  "any_of": [
    {
      "finding": "germline_brip1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_brip1_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona RedFlag for BRIP1 heterozygous carriers. NCCN endorses RRSO at completed childbearing or age 45-50; no population ovarian cancer screening recommended. Breast surveillance per general-population schedules unless family history independently elevates risk. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Utilisé par

Indication

Signal d’alerte