Nijmegen Breakage Syndrome

A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
Also Known As:
Breakage Syndrome, Nijmegen; Syndrome, Nijmegen Breakage
Networked: 141 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Ataxia Telangiectasia (Louis Bar Syndrome)
2. Lung Neoplasms (Lung Cancer)
3. Squamous Cell Carcinoma (Epidermoid Carcinoma)
4. Neoplasms (Cancer)
5. Fanconi Anemia (Fanconi's Anemia)


1. Komatsu, Kenshi: 7 articles (03/2009 - 08/2002)
2. Kobayashi, Junya: 4 articles (03/2009 - 10/2002)
3. Tauchi, Hiroshi: 4 articles (10/2007 - 10/2002)
4. Stracker, Travis H: 3 articles (11/2015 - 12/2008)
5. Tong, Wei-Min: 3 articles (04/2014 - 08/2006)
6. Petrini, John H J: 3 articles (08/2012 - 12/2008)
7. Digweed, Martin: 3 articles (11/2010 - 08/2004)
8. Sperling, Karl: 3 articles (09/2010 - 03/2004)
9. Komatsu, K: 3 articles (07/2002 - 01/2001)
10. Petrini, J H: 3 articles (04/2001 - 06/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nijmegen Breakage Syndrome:
1. DNA (Deoxyribonucleic Acid)IBA
2. Proteins (Proteins, Gene)IBA
02/01/2011 - "The MRE11 complex, composed of the meiotic recombination 11 (MRE11), RAD50 and Nijmegen breakage syndrome 1 (NBS1; also known as nibrin) proteins is central to the DDR, and recent insights into its structure and function have been gained from in vitro structural analysis and studies of animal models in which the DDR response is deficient."
12/17/2013 - "Following DNA damage, ATM is activated and recruited by the MRN protein complex [meiotic recombination 11 (Mre11)/DNA repair protein Rad50/Nijmegen breakage syndrome 1 proteins] to sites of DNA damage where ATM phosphorylates multiple substrates to trigger cell-cycle arrest. "
08/01/2012 - "ALT is a mechanism based on homologous recombination (HR) between telomere sister chromatids, and a number of proteins involved in the HR pathway, such as MRN [MRE11 (meiotic recombination 11)-Rad50-NBS1 (Nijmegen breakage syndrome 1)] complex are required for the ALT pathway. "
04/04/2010 - "Interestingly, we demonstrate that inactivation of Rad51 does not eliminate the effect of SIRT1 on HR. By epistasis-like analysis through knockdown and use of mutant cells of distinct SIRT1 target proteins, we show that the non-homologous end joining (NHEJ) factor Ku70 as well as the Nijmegen Breakage Syndrome protein (nibrin) are not needed for this SIRT1-mediated effect, even though a partial contribution of nibrin cannot be excluded. "
08/12/2008 - "The product of the Nijmegen breakage syndrome gene (NBS1) plays crucial roles in DNA damage response through its association with many proteins, including MRE11 and RAD50. "
3. Phosphotransferases (Kinase)IBA
4. IntegrasesIBA
5. Viral DNAIBA
6. Cisplatin (Platino)FDA LinkGeneric
7. 1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA
8. A-Form DNA (A-DNA)IBA
9. Staphylococcal Protein A (A, Protein)IBA
10. Histones (Histone)IBA
10/29/2002 - "Here, we show that NBS1, the gene product defective in Nijmegen breakage syndrome (NBS), physically interacts with histone, rather than damaged DNA, by direct binding to gamma-H2AX. "
12/08/2000 - "We report that the Nijmegen breakage syndrome protein (NBS1) and histone gamma-H2AX, which associate with irradiation-induced DNA double-strand breaks (DSBs), are also found at sites of VDJ (variable, diversity, joining) recombination-induced DSBs. "
12/06/2001 - "Here we report that the Nijmegen breakage syndrome protein (Nbs1) and phosphorylated H2A histone family member X (gamma-H2AX, also known as gamma-H2afx), which facilitate DNA double-strand break (DSB) repair, form nuclear foci at the Ch region in the G1 phase of the cell cycle in cells undergoing CSR, and that switching is impaired in H2AX-/- mice. "
01/01/2007 - "U:G mismatches created by AID are processed to produce lesions that recruit and activate DNA damage response proteins including Ataxia-telangiectasia mutated (ATM), histone H2AX, Nijmegen breakage syndrome 1 (Nbs1), and p53 binding protein 1 (53BP1). "
01/01/2010 - "Recently, there have been many reports concerning proteins which can recognize DNA double strand break (DSBs), and such proteins include histone H2AX phosphorylated at serine 139 (gammaH2AX), ataxia telangiectasia mutated (ATM) phospho-serine 1981, DNA-dependent protein kinase catalytic subunit (DNA-PKcs) phospho-threonine 2609, Nijmegen breakage syndrome 1 (NBS1) phospho-serine 343, checkpoint kinase 2 (CHK2), phospho-threonine 68, and structural maintenance of chromosomes 1 (SMC1) phospho-serine 966. "

Therapies and Procedures

1. Radiotherapy
2. Transplantation (Transplant Recipients)
3. Lasers (Laser)
4. Drug Therapy (Chemotherapy)