Nijmegen breakage syndrome

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