Radiation Oncology/Cancer Syndromes/Nijmegen Breakage Syndrome

Nijmegen Breakage Syndrome

  • Absence of nibrin protein (NBS1 gene), part of MRN complex involved in DNA double-strand break recognition and repair
  • Short stature, progressive microcephaly with loss of cognitive skills, premature ovarian failure in females, recurrent sinopulmonary infections, and an increased risk for cancer
  • Historically considered a variant of A-T, until separate genes demonstrated
  • 70 individuals reported to-date
  • Cancer risk: 35% malignancy (25/70)
    • Lymphoma 90% (22/25)
  • Sensitivity to ionizing radiation