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Confirmed germline pathogenic / likely-pathogenic variant in BRIP1 (BRCA1-interacting pro...

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

IDRF-BRIP1-CONFIRMED-CARRIER
TypeRed flag
Statusreviewed 2026-05-19 | pending_clinical_signoff
DiseasesDIS-OVARIAN
SourcesSRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025

Red Flag Origin

DefinitionConfirmed germline pathogenic / likely-pathogenic variant in BRIP1 (BRCA1-interacting protein 1, also FANCJ). Heterozygous BRIP1 carriers have established moderate-penetrance ovarian cancer risk (RR ~3.0; lifetime ~5-15%; sufficient for NCCN-endorsed risk-reducing salpingo- oophorectomy discussion at completed childbearing or age 45-50). Possible modest breast cancer signal (controversial; current NCCN does not include BRIP1 in elevated breast tier). Biallelic BRIP1 is the autosomal-recessive Fanconi anemia complementation group J phenotype, distinct from the cancer-predisposition carrier state here. Less common multi-gene panel finding (~0.2-0.5% unselected ovarian cancer cohorts). Patient has confirmed positive germline test; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 moderate-penetrance ovarian gene expansion).
Clinical directioninvestigate
Categoryother

Trigger Logic

{
  "any_of": [
    {
      "finding": "germline_brip1_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_brip1_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona RedFlag for BRIP1 heterozygous carriers. NCCN endorses RRSO at completed childbearing or age 45-50; no population ovarian cancer screening recommended. Breast surveillance per general-population schedules unless family history independently elevates risk. STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

Used By

Indications

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