Family pedigree pattern suggestive of germline BRIP1 heterozygous carrier state in an asy...

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

ID	`RF-BRIP1-FAMILY-HISTORY-SUSPICION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-19 \| очікує клінічного підпису
Хвороби	`DIS-OVARIAN`
Джерела	`SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025` `SRC-NCCN-OVARIAN-2025`

Походження тривожної ознаки

Визначення	Family 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...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "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"
}

Нотатки

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.

Де використовується

Indications

IND-BRIP1-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE - IND-BRIP1-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE
IND-BRIP1-SUSPICION-PREVENTION-TESTING - IND-BRIP1-SUSPICION-PREVENTION-TESTING