Variante patogénica/ probable patogénica confirmada en BRIP1 (BRCA1-interac...

Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.

ID	`RF-BRIP1-CONFIRMED-CARRIER`
Tipo	Señal de alerta
Situación	reviewed 2026-05-19 \| pending_clinical_signoff
Enfermedades	`DIS-OVARIAN`
Fuentes	`SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025` `SRC-NCCN-OVARIAN-2025`

Origen de la bandera roja

Definición	Confirmed 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).
Dirección clínica	investigación
Categoría	otros

Lógica de activación

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

Notas

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.

Utilizado por

Indicación

IND-BRIP1-CARRIER-PREVENTION-OBSERVATION - IND-BRIP1-CARRIER-PREVENTION-OBSERVATION
IND-BRIP1-CARRIER-PREVENTION-SURVEILLANCE - IND-BRIP1-CARRIER-PREVENTION-SURVEILLANCE
IND-BRIP1-SUSPICION-PREVENTION-TESTING - IND-BRIP1-SUSPICION-PREVENTION-TESTING

Señal de alerta

RF-BRIP1-FAMILY-HISTORY-SUSPICION - Patrón genealógico familiar sugestivo de la línea germinal BRIP1 estado portador heterozigoto en un asy...