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Chromosomal breakage induced by ionizing radiation

MedGen UID:
866851
Concept ID:
C4021206
Pathologic Function
Synonyms: Chromosomal breakage induced by ionising radiation; Increased cellular radiosensitivity; Radiation-induced chromosome instability
 
HPO: HP:0010997

Definition

Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosomal breakage induced by ionizing radiation

Conditions with this feature

Nijmegen breakage syndrome-like disorder
MedGen UID:
442700
Concept ID:
C2751318
Disease or Syndrome
Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration (summary by Ragamin et al., 2020).

Professional guidelines

PubMed

Bakhoum SF, Kabeche L, Wood MD, Laucius CD, Qu D, Laughney AM, Reynolds GE, Louie RJ, Phillips J, Chan DA, Zaki BI, Murnane JP, Petritsch C, Compton DA
Nat Commun 2015 Jan 21;6:5990. doi: 10.1038/ncomms6990. PMID: 25606712Free PMC Article

Recent clinical studies

Etiology

Soni A, Murmann-Konda T, Siemann-Loekes M, Pantelias GE, Iliakis G
DNA Repair (Amst) 2020 May;89:102828. Epub 2020 Feb 27 doi: 10.1016/j.dnarep.2020.102828. PMID: 32143127
Sram RJ, Binkova B, Rossner P Jr
Mutat Res 2012 May 1;733(1-2):39-49. Epub 2011 Dec 13 doi: 10.1016/j.mrfmmm.2011.12.001. PMID: 22178550
Chistiakov DA, Voronova NV, Chistiakov PA
Acta Oncol 2008;47(5):809-24. doi: 10.1080/02841860801885969. PMID: 18568480
Yuan SS, Chang HL, Lee EY
Mutat Res 2003 Apr 9;525(1-2):85-92. doi: 10.1016/s0027-5107(03)00009-5. PMID: 12650908
Hall J, Angèle S
Mol Med Today 1999 Apr;5(4):157-64. doi: 10.1016/s1357-4310(99)01435-5. PMID: 10203748

Diagnosis

Bucher M, Endesfelder D, Roessler U, Borkhardt A, Dückers G, Kirlum HJ, Lankisch P, Oommen PT, Niehues T, Rübe CE, Baumgartner I, Bunk F, Moertl S, Hornhardt S, Gomolka M
Mutat Res Genet Toxicol Environ Mutagen 2021 Jan-Feb;861-862:503301. Epub 2020 Dec 10 doi: 10.1016/j.mrgentox.2020.503301. PMID: 33551102
Feijoo P, Dominguez D, Tusell L, Genesca A
Curr Pharm Des 2014;20(41):6375-85. doi: 10.2174/1381612820666140630085416. PMID: 24975612
Sram RJ, Binkova B, Rossner P Jr
Mutat Res 2012 May 1;733(1-2):39-49. Epub 2011 Dec 13 doi: 10.1016/j.mrfmmm.2011.12.001. PMID: 22178550
Lukas C, Bartek J, Lukas J
Chromosoma 2005 Aug;114(3):146-54. Epub 2005 Jun 30 doi: 10.1007/s00412-005-0011-y. PMID: 15988581
Hall J, Angèle S
Mol Med Today 1999 Apr;5(4):157-64. doi: 10.1016/s1357-4310(99)01435-5. PMID: 10203748

Therapy

Sram RJ, Binkova B, Rossner P Jr
Mutat Res 2012 May 1;733(1-2):39-49. Epub 2011 Dec 13 doi: 10.1016/j.mrfmmm.2011.12.001. PMID: 22178550
Tsai AG, Lieber MR
BMC Genomics 2010 Feb 10;11 Suppl 1(Suppl 1):S1. doi: 10.1186/1471-2164-11-S1-S1. PMID: 20158866Free PMC Article
Durante M, Ando K, Furusawa Y, Obe G, George K, Cucinotta FA
Cytogenet Genome Res 2004;104(1-4):240-4. doi: 10.1159/000077497. PMID: 15162046
Kawata T, Ito H, Uno T, Saito M, Yamamoto S, Furusawa Y, Durante M, George K, Wu H, Cucinotta FA
Cytogenet Genome Res 2004;104(1-4):211-5. doi: 10.1159/000077491. PMID: 15162040
Kiuru A, Lindholm C, Auvinen A, Salomaa S
Int J Radiat Biol 2000 May;76(5):667-72. doi: 10.1080/095530000138330. PMID: 10866289

Prognosis

Someya M, Sakata K, Matsumoto Y, Tauchi H, Narimatsu H, Hareyama M
Oncol Rep 2007 Oct;18(4):873-8. PMID: 17786349
Durante M, Ando K, Furusawa Y, Obe G, George K, Cucinotta FA
Cytogenet Genome Res 2004;104(1-4):240-4. doi: 10.1159/000077497. PMID: 15162046
Cebulska-Wasilewska A
Mutat Res 2003 Nov;544(2-3):289-97. doi: 10.1016/j.mrrev.2003.07.003. PMID: 14644330
Pinto M, Prise KM, Michael BD
Int J Radiat Biol 2002 May;78(5):375-88. doi: 10.1080/09553000110110941. PMID: 12020428
Wu H
Radiat Res 2001 Nov;156(5 Pt 2):603-6. doi: 10.1667/0033-7587(2001)156[0603:poriia]2.0.co;2. PMID: 11604080

Clinical prediction guides

Bucher M, Endesfelder D, Roessler U, Borkhardt A, Dückers G, Kirlum HJ, Lankisch P, Oommen PT, Niehues T, Rübe CE, Baumgartner I, Bunk F, Moertl S, Hornhardt S, Gomolka M
Mutat Res Genet Toxicol Environ Mutagen 2021 Jan-Feb;861-862:503301. Epub 2020 Dec 10 doi: 10.1016/j.mrgentox.2020.503301. PMID: 33551102
Sram RJ, Binkova B, Rossner P Jr
Mutat Res 2012 May 1;733(1-2):39-49. Epub 2011 Dec 13 doi: 10.1016/j.mrfmmm.2011.12.001. PMID: 22178550
Bailey SM, Bedford JS
DNA Repair (Amst) 2006 Sep 8;5(9-10):1171-81. Epub 2006 Jun 30 doi: 10.1016/j.dnarep.2006.05.033. PMID: 16814619
Durante M, Ando K, Furusawa Y, Obe G, George K, Cucinotta FA
Cytogenet Genome Res 2004;104(1-4):240-4. doi: 10.1159/000077497. PMID: 15162046
Yuan SS, Chang HL, Lee EY
Mutat Res 2003 Apr 9;525(1-2):85-92. doi: 10.1016/s0027-5107(03)00009-5. PMID: 12650908

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