Family pedigree pattern suggestive of germline BARD1 heterozygous carrier state in an asy...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

ID	`RF-BARD1-FAMILY-HISTORY-SUSPICION`
Type	Red flag
Status	reviewed 2026-05-19 \| pending_clinical_signoff
Diseases	`DIS-BREAST` `DIS-OVARIAN`
Sources	`SRC-NCCN-BREAST-2025` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Red Flag Origin

Definition	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...
Clinical direction	investigate
Category	other

Trigger Logic

{
  "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"
}

Notes

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.

Used By

Indications

IND-BARD1-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE - IND-BARD1-SUSPICION-PREVENTION-EMPIRICAL-SURVEILLANCE
IND-BARD1-SUSPICION-PREVENTION-TESTING - IND-BARD1-SUSPICION-PREVENTION-TESTING