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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.


- germline mutations in the NBS1 gene

See also

- chromosomal breakage syndromes
- chromosomal instability
- chromosomal instability syndromes
- tumor predisposition syndromes


- 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