Gene NBN
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Also known as
nibrin, NBS1, Nijmegen breakage syndrome protein, cell cycle regulatory protein p95Overview
NBN (Nibrin) encodes a component of the MRN complex (MRE11-RAD50-NBS1) that plays essential roles in DNA double-strand break repair, cell cycle checkpoint activation, and telomere maintenance. Nibrin is one of the first responders to DNA damage, helping to recruit repair machinery and coordinate the cellular response to maintain genomic integrity.Biallelic mutations in NBN cause Nijmegen breakage syndrome (NBS), characterized by microcephaly, growth retardation, immunodeficiency, and greatly increased cancer risk. Heterozygous carriers of NBN mutations also have moderately elevated cancer risk, particularly for breast, prostate, and lymphoid malignancies. The 657del5 founder mutation is relatively common in Slavic populations.
Understanding your NBN genetic status provides insights into DNA repair capacity and cancer susceptibility. This information is relevant for individuals of Eastern European ancestry and those with family history of characteristic cancers, informing surveillance strategies and family planning.