Onco Wiki / Bandera roja

Family pedigree pattern suggestive of germline RAD51C or RAD51D heterozygous carrier stat...

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

IDRF-RAD51C-D-FAMILY-HISTORY-SUSPICION
TipoSeñal de alerta
Situaciónreviewed 2026-05-19 | pending_clinical_signoff
EnfermedadesDIS-BREAST DIS-OVARIAN
FuentesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025

Origen de la bandera roja

DefiniciónFamily pedigree pattern suggestive of germline RAD51C or RAD51D heterozygous carrier state in an asymptomatic individual who has NOT yet had multi-gene panel testing. RAD51C/D are RAD51 paralogs essential for homologous-recombination repair; carriers approach BRCA-level ovarian penetrance (lifetime ovarian cancer ~10-15% RAD51C, ~12-20% RAD51D; RR ~5.9 and ~6.6 respectively). Triggers include any of (a) first- or second-degree relative with a confirmed RAD51C or RAD51D pathogenic / likely-pathogenic variant; (b) family-history cluster of multiple ovarian / fallopian-tube / primary peritoneal carcinomas (≥2 first/second-degree affected relatives) with negative BRCA1/2 testing in affected relative — RAD51C/D are the most common moderate-penetrance findings (after BRIP1) in BRCA-negative ovarian-predominant pedigrees; (c) BRCA-negative HBOC-spectrum pedigree with predominantly ovarian rath...
Dirección clínicainvestigación
Categoríaotros

Lógica de activación

{
  "any_of": [
    {
      "finding": "family_rad51c_or_rad51d_known_pathogenic_variant",
      "value": true
    },
    {
      "finding": "family_multiple_ovarian_brca_negative_two_or_more",
      "value": true
    },
    {
      "finding": "family_brca_negative_hboc_ovarian_predominant_high_grade_serous",
      "value": true
    },
    {
      "finding": "family_multiple_high_grade_serous_ovarian_multi_generation",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

v0.3 Wave M suspicion variant — pre-testing family-history- suspicion counterpart to RF-RAD51C-D-CONFIRMED-CARRIER. Fires when family pedigree pattern suggests RAD51C or RAD51D carrier state but germline panel testing has not yet been completed. Standard pathway = referral for genetic counseling + multi-gene HBOC panel covering BRCA1/2 + RAD51C/D + BRIP1 minimum. If panel returns positive for RAD51C or RAD51D, the patient transitions to the RF-RAD51C-D-CONFIRMED-CARRIER pathway with NCCN-endorsed RRSO at completed childbearing or age 45-50 (RAD51C/D approach BRCA-level penetrance), individualised breast surveillance with MRI consideration in elevated-family-history subset, and PARP inhibitor relevance for any future ovarian-cancer diagnosis (PROfound + GEN-ALL trials). Distinct trigger findings from the confirmed-carrier RF (carrier RF fires on `germline_rad51c_ pathogenic_variant_confirmed` / `germline_rad51d_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.

Utilizado por

Indicación