Radiation Oncology/Cancer Syndromes/Nijmegen Breakage Syndrome
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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