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Confirmed germline pathogenic / likely-pathogenic variant in RAD51C OR RAD51D — RAD51 par...

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IDRF-RAD51C-D-CONFIRMED-CARRIER
TipoSinal de alerta
Estadoreviewed 2026-05-19 | pending_clinical_signoff
DoençasDIS-BREAST DIS-OVARIAN
FontesSRC-NCCN-BREAST-2025 SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025

Origem da bandeira vermelha

DefiniçãoConfirmed germline pathogenic / likely-pathogenic variant in RAD51C OR RAD51D — RAD51 paralogs essential for homologous-recombination repair, partners of BRCA1/BRCA2 in the HR complex. Heterozygous carriers have moderate-to-high-penetrance ovarian cancer risk (RR ~5.9 RAD51C, RR ~6.6 RAD51D; lifetime ovarian cancer ~10-15% RAD51C, ~12-20% RAD51D — approaching BRCA1/2 levels). Modest breast cancer signal (RR ~1.5-2.0 for RAD51C; some evidence higher for triple-negative subset). Biallelic RAD51C is Fanconi anemia complementation group O; biallelic RAD51D more variable. Less common multi-gene panel finding (~0.5-1% of unselected ovarian cancer cohorts). Patient has confirmed positive germline test in RAD51C or RAD51D; no current personal cancer diagnosis in the carrier being assessed. Prevention-persona RedFlag (§20, v0.3 moderate-penetrance ovarian gene expansion).
Direcção clínicainvestigar
CategoriaOutros

Lógica de Desencadeamento

{
  "any_of": [
    {
      "finding": "germline_rad51c_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_rad51d_pathogenic_variant_confirmed",
      "value": true
    },
    {
      "finding": "germline_rad51c_likely_pathogenic_variant",
      "value": true
    },
    {
      "finding": "germline_rad51d_likely_pathogenic_variant",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notas

Prevention-persona RedFlag for RAD51C/RAD51D heterozygous carriers. Approaches BRCA-level ovarian penetrance — NCCN endorses RRSO at completed childbearing or age 45-50. Breast surveillance: individualised by family history; consider annual MRI in additional- risk subset. Olaparib PARP inhibitor active in RAD51C/D-mutant established ovarian cancer (PROfound + GEN-ALL trials). STUB pending two-Co-Lead signoff per CHARTER §6.1 dev-mode.

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Indicação

Sinal de alerta