Family pedigree pattern suggestive of germline BARD1 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-BARD1-FAMILY-HISTORY-SUSPICION`
Тип	Тривожна ознака
Статус	переглянуто 2026-05-19 \| очікує клінічного підпису
Хвороби	`DIS-BREAST` `DIS-OVARIAN`
Джерела	`SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Походження тривожної ознаки

Визначення	Family pedigree pattern suggestive of germline BARD1 heterozygous carrier state in an asymptomatic individual who has NOT yet had multi-gene panel testing. BARD1 (BRCA1-associated RING domain 1) is the obligate partner of BRCA1 in the BRCA1-BARD1 heterodimer essential for homologous-recombination repair. Triggers include any of (a) first- or second-degree relative with a confirmed BARD1 pathogenic / likely-pathogenic variant; (b) family-history cluster of triple-negative breast cancer in close relatives — BARD1 shows enriched signal in the TNBC subset; (c) family-history pattern resembling BRCA-style HBOC but with negative BRCA1/2 testing in affected relative (BARD1 is one of several moderate-penetrance findings in BRCA-negative BRCA-like pedigrees); (d) early-onset (<50y) breast cancer in a first-degree relative with negative BRCA1/2 panel testing and additional family-history support...
Клінічний напрям	investigate
Категорія	other

Логіка спрацьовування

{
  "any_of": [
    {
      "finding": "family_bard1_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_triple_negative_breast_cluster",
      "value": true
    },
    {
      "finding": "family_brca_like_pedigree_brca_negative",
      "value": true
    },
    {
      "finding": "family_early_onset_breast_brca_negative_with_support",
      "value": true
    }
  ],
  "type": "lab_value"
}

Нотатки

v0.3 Wave M suspicion variant — pre-testing family-history- suspicion counterpart to RF-BARD1-CONFIRMED-CARRIER. Fires when family pedigree pattern suggests BARD1 carrier state but germline panel testing has not yet been completed. Standard pathway = referral for genetic counseling + multi-gene HBOC panel. If panel returns positive for BARD1, the patient transitions to the RF-BARD1-CONFIRMED-CARRIER pathway (annual mammography from age 40 + MRI consideration; earlier or MRI-inclusive screening in family-history-stratified TNBC-enriched cohorts; ovarian symptom-driven workup only — modest signal does not justify routine ovarian surveillance). Distinct trigger findings from the confirmed-carrier RF (carrier RF fires on `germline_bard1_ 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-BARD1-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE - IND-BARD1-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE
IND-BARD1-SUSPICION-PREVENTION-TESTING - IND-BARD1-SUSPICION-PREVENTION-TESTING