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Patrón pedigree familiar sugestivo de la línea germinal BRIP1 heterozigoto estado portador en un asy...

Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.

IDRF-BRIP1-FAMILY-HISTORY-SUSPICION
TipoSeñal de alerta
Situaciónreviewed 2026-05-19 | pending_clinical_signoff
EnfermedadesDIS-OVARIAN
FuentesSRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025

Origen de la bandera roja

DefiniciónFamily pedigree pattern suggestive of germline BRIP1 heterozygous carrier state in an asymptomatic individual who has NOT yet had multi-gene panel testing. BRIP1 (BRCA1-interacting protein 1, also FANCJ) carriers have established moderate-penetrance ovarian cancer risk (RR ~3.0; lifetime ~5-15%) sufficient for NCCN-endorsed risk-reducing salpingo-oophorectomy at completed childbearing or age 45-50. Triggers include any of (a) first- or second-degree relative with a confirmed BRIP1 pathogenic / likely-pathogenic variant; (b) family-history cluster of ovarian / fallopian-tube / primary peritoneal carcinoma at any age (≥1 first-degree relative with high-grade serous histology, or ≥2 affected relatives at any age — BRIP1 is the most common moderate-penetrance gene identified in BRCA-negative ovarian cancer pedigrees); (c) family history of multiple ovarian cancers without confirmed BRCA1/2...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "family_brip1_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_ovarian_cancer_high_grade_or_multiple",
      "value": true
    },
    {
      "finding": "family_multiple_ovarian_brca_negative",
      "value": true
    },
    {
      "finding": "family_brca_negative_hboc_ovarian_predominant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

v0.3 Wave M suspicion variant — pre-testing family-history- suspicion counterpart to RF-BRIP1-CONFIRMED-CARRIER. Fires when family pedigree pattern suggests BRIP1 carrier state but germline panel testing has not yet been completed. Standard pathway = referral for genetic counseling + multi-gene HBOC panel covering BRCA1/2 + relevant moderate-penetrance ovarian-risk genes (BRIP1, RAD51C, RAD51D minimum). If panel returns positive for BRIP1, the patient transitions to the RF-BRIP1-CONFIRMED-CARRIER pathway with NCCN-endorsed RRSO discussion at completed childbearing or age 45-50, no population ovarian cancer screening recommended pre-RRSO (TVUS + CA-125 demonstrated poor sensitivity in BRCA- carrier cohorts, applies similarly to BRIP1). Distinct trigger findings from the confirmed-carrier RF (carrier RF fires on `germline_brip1_pathogenic_variant_confirmed`; suspicion RF fires on family-history-based findings only). STUB pending two-Clinical- Co-Lead signoff per CHARTER §6.1 dev-mode.

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