Confirmed germline pathogenic / likely-pathogenic variant in BRCA1 or BRCA2 — the canonic...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | RF-BRCA-CONFIRMED-CARRIER |
|---|---|
| Type | Red flag |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-BREAST DIS-OVARIAN DIS-PDAC DIS-PROSTATE |
| Sources | SRC-ESMO-BREAST-EARLY-2024 SRC-ESMO-OVARIAN-2024 SRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025 |
Red Flag Origin
| Definition | Confirmed germline pathogenic / likely-pathogenic variant in BRCA1 or BRCA2 — the canonical HBOC (Hereditary Breast and Ovarian Cancer) spectrum genes. Patient has had a germline test returned positive; the family-history-suspicion question is settled. No current personal cancer diagnosis in the carrier being assessed (current cancer diagnosis routes to treatment-track plan with carrier status driving systemic-therapy selection — PARP inhibitor consideration, platinum sensitivity, RRM / RRSO interaction). Prevention-persona RedFlag (§20, v0.2-B confirmed-carrier surveillance pathway — distinct from the family-history-suspicion pathway in RF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION which fires before testing). |
|---|---|
| Clinical direction | investigate |
| Category | other |
Trigger Logic
{
"any_of": [
{
"finding": "germline_brca1_pathogenic_variant_confirmed",
"value": true
},
{
"finding": "germline_brca2_pathogenic_variant_confirmed",
"value": true
}
],
"type": "lab_value"
}
Notes
v0.2-B confirmed-carrier surveillance pathway — BRCA1 / BRCA2. Fires on documented germline BRCA pathogenic variant positivity in an asymptomatic individual. Engine routes to PreventionPlan recommending: (a) IND-BRCA-CARRIER-SURVEILLANCE (standard) — NCCN Genetic / Familial High-Risk: Breast, Ovarian, Pancreatic carrier surveillance protocol (annual breast MRI from age 25 alternating with mammogram from 30; clinical breast exam q6mo; TVUS + CA-125 q6mo from age 30-35 framed honestly as suboptimal; PSA + DRE for BRCA2 men from 40) (b) IND-BRCA-CARRIER-INTENSIFIED (aggressive) — standard protocol PLUS discussion of risk-reducing mastectomy (RRM) age 25-30 (BRCA1 > BRCA2 urgency) AND risk-reducing BSO (RRSO) age 35-40 (BRCA1) / 40-45 (BRCA2) post-childbearing. Triggers correspond to a positive germline panel result (variant classification per ACMG framework — pathogenic / likely pathogenic). PALB2, CHEK2, ATM, RAD51C/D, BRIP1 confirmed carriers receive distinct (gene-specific) protocols and would be authored as separate confirmed-carrier RFs in future v0.2-B iterations (out of scope here per task allowlist). STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode exemptio...
Used By
Algorithms
ALGO-HEREDITARY-PROSTATE-CANCER-RISK- ALGO-HEREDITARY-PROSTATE-CANCER-RISKALGO-NCCN-PANCREATIC-CAPS-SURVEILLANCE- ALGO-NCCN-PANCREATIC-CAPS-SURVEILLANCEALGO-PREVENTION-RISK-TRIAGE-OVERVIEW- ALGO-PREVENTION-RISK-TRIAGE-OVERVIEW
Indications
IND-BRCA-CARRIER-INTENSIFIED- IND-BRCA-CARRIER-INTENSIFIEDIND-BRCA-CARRIER-SURVEILLANCE- IND-BRCA-CARRIER-SURVEILLANCE
Red flag
RF-BRCA-HBOC-FAMILY-HISTORY-SUSPICION- Family pedigree meeting criteria suggestive of Hereditary Breast and Ovarian Cancer (HBOC...