Home > D. General pathology > Genetic and developmental anomalies > Nijmegen breakage syndrome
Nijmegen breakage syndrome
Thursday 19 August 2004
Nijmegen breakage syndrome derives from mutations of an ATM target gene, and shares with ataxia telangiectasia the features of radiosensitivity, cancer predisposition, and immunodeficiency.
Etiology
germline mutations in the NBS1 gene
See also
chromosomal breakage syndromes
chromosomal instability
chromosomal instability syndromes
tumor predisposition syndromes
References
Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. PMID: 15279770
Matsuura S, Kobayashi J, Tauchi H, Komatsu K. Nijmegen breakage syndrome and DNA double strand break repair by NBS1 complex. Adv Biophys. 2004;38:65-80. PMID: 15493328
