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Abnormality of chromosome stability

MedGen UID:
425130
Concept ID:
CN002908
Finding
Synonyms: Chromosome breakage; High frequency of chromosome breaks in lymphocytes; Increased chromosomal breakage; Increased chromosomal breakage rate; Increased chromosome breakage; Multiple chromosomal breaks; Tendency to chromosomal breakage
 

Definition

A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. [from HPO]

Recent clinical studies

Etiology

Pongsavee M
Biomed Res Int 2015;2015:103512. Epub 2015 Feb 17 doi: 10.1155/2015/103512. PMID: 25785261Free PMC Article
Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP
Cytogenet Genome Res 2014;144(1):15-27. Epub 2014 Sep 11 doi: 10.1159/000366251. [Epub ahead of print] PMID: 25227706Free PMC Article
Przybytkowski E, Lenkiewicz E, Barrett MT, Klein K, Nabavi S, Greenwood CM, Basik M
BMC Genomics 2014 Jul 9;15:579. doi: 10.1186/1471-2164-15-579. [Epub ahead of print] PMID: 25011954Free PMC Article
Simon AJ, Lev A, Jeison M, Borochowitz ZU, Korn D, Lerenthal Y, Somech R
J Clin Immunol 2014 Jan;34(1):76-83. Epub 2013 Nov 7 doi: 10.1007/s10875-013-9957-3. [Epub ahead of print] PMID: 24197801
Xanthopoulou L, Ghevaria H, Mantzouratou A, Serhal P, Doshi A, Delhanty JD
Cytogenet Genome Res 2012;136(1):21-9. Epub 2011 Dec 14 doi: 10.1159/000334836. [Epub ahead of print] PMID: 22179562

Diagnosis

Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP
Cytogenet Genome Res 2014;144(1):15-27. Epub 2014 Sep 11 doi: 10.1159/000366251. [Epub ahead of print] PMID: 25227706Free PMC Article
Brüsehafer K, Rees BJ, Manshian BB, Doherty AT, O'Donovan MR, Doak SH, Jenkins GJ
Toxicol Sci 2014 Jul;140(1):94-102. Epub 2014 Mar 27 doi: 10.1093/toxsci/kfu058. [Epub ahead of print] PMID: 24675086
Simon AJ, Lev A, Jeison M, Borochowitz ZU, Korn D, Lerenthal Y, Somech R
J Clin Immunol 2014 Jan;34(1):76-83. Epub 2013 Nov 7 doi: 10.1007/s10875-013-9957-3. [Epub ahead of print] PMID: 24197801
Carlin V, Fracalossi AC, Miranda SR, Noguti J, Pereira da Silva VH, Oshima CT, Ribeiro DA
Toxicol Mech Methods 2013 Feb;23(2):108-12. Epub 2012 Oct 1 doi: 10.3109/15376516.2012.721810. [Epub ahead of print] PMID: 22901279
Xanthopoulou L, Ghevaria H, Mantzouratou A, Serhal P, Doshi A, Delhanty JD
Cytogenet Genome Res 2012;136(1):21-9. Epub 2011 Dec 14 doi: 10.1159/000334836. [Epub ahead of print] PMID: 22179562

Therapy

Terzoudi GI, Karakosta M, Pantelias A, Hatzi VI, Karachristou I, Pantelias G
Mutat Res Genet Toxicol Environ Mutagen 2015 Nov;793:185-98. Epub 2015 Jul 29 doi: 10.1016/j.mrgentox.2015.07.014. [Epub ahead of print] PMID: 26520389
Thys RG, Lehman CE, Pierce LC, Wang YH
Mutat Res 2015 Sep;779:86-95. Epub 2015 Jun 27 doi: 10.1016/j.mrfmmm.2015.06.011. [Epub ahead of print] PMID: 26163765Free PMC Article
Smith KA, Cowell IG, Zhang Y, Sondka Z, Austin CA
Genes Chromosomes Cancer 2014 Feb;53(2):117-28. Epub 2013 Nov 5 doi: 10.1002/gcc.22124. [Epub ahead of print] PMID: 24327541
Carlin V, Fracalossi AC, Miranda SR, Noguti J, Pereira da Silva VH, Oshima CT, Ribeiro DA
Toxicol Mech Methods 2013 Feb;23(2):108-12. Epub 2012 Oct 1 doi: 10.3109/15376516.2012.721810. [Epub ahead of print] PMID: 22901279
Ricoul M, Lebeau J, Sabatier L, Dutrillaux B
Mutat Res 1998 Jul 17;403(1-2):177-83. PMID: 9726018

Prognosis

Thys RG, Lehman CE, Pierce LC, Wang YH
Mutat Res 2015 Sep;779:86-95. Epub 2015 Jun 27 doi: 10.1016/j.mrfmmm.2015.06.011. [Epub ahead of print] PMID: 26163765Free PMC Article
Alpermann T, Haferlach C, Eder C, Nadarajah N, Meggendorfer M, Kern W, Haferlach T, Schnittger S
Leuk Res 2015 Mar;39(3):265-72. Epub 2014 Dec 16 doi: 10.1016/j.leukres.2014.11.026. [Epub ahead of print] PMID: 25592059
Brüsehafer K, Rees BJ, Manshian BB, Doherty AT, O'Donovan MR, Doak SH, Jenkins GJ
Toxicol Sci 2014 Jul;140(1):94-102. Epub 2014 Mar 27 doi: 10.1093/toxsci/kfu058. [Epub ahead of print] PMID: 24675086
Dillon LW, Pierce LC, Ng MC, Wang YH
Hum Mol Genet 2013 Apr 1;22(7):1443-56. Epub 2013 Jan 7 doi: 10.1093/hmg/dds561. [Epub ahead of print] PMID: 23297364Free PMC Article
Xanthopoulou L, Ghevaria H, Mantzouratou A, Serhal P, Doshi A, Delhanty JD
Cytogenet Genome Res 2012;136(1):21-9. Epub 2011 Dec 14 doi: 10.1159/000334836. [Epub ahead of print] PMID: 22179562

Clinical prediction guides

Thys RG, Lehman CE, Pierce LC, Wang YH
Mutat Res 2015 Sep;779:86-95. Epub 2015 Jun 27 doi: 10.1016/j.mrfmmm.2015.06.011. [Epub ahead of print] PMID: 26163765Free PMC Article
Przybytkowski E, Lenkiewicz E, Barrett MT, Klein K, Nabavi S, Greenwood CM, Basik M
BMC Genomics 2014 Jul 9;15:579. doi: 10.1186/1471-2164-15-579. [Epub ahead of print] PMID: 25011954Free PMC Article
Brüsehafer K, Rees BJ, Manshian BB, Doherty AT, O'Donovan MR, Doak SH, Jenkins GJ
Toxicol Sci 2014 Jul;140(1):94-102. Epub 2014 Mar 27 doi: 10.1093/toxsci/kfu058. [Epub ahead of print] PMID: 24675086
Sorzano CO, Pascual-Montano A, Sánchez de Diego A, Martínez-A C, van Wely KH
Cell Cycle 2013 Jul 1;12(13):2016-23. Epub 2013 Jun 11 doi: 10.4161/cc.25266. [Epub ahead of print] PMID: 23759584Free PMC Article
Porto B, Sousa R, Malheiro I, Gaspar J, Rueff J, Gonçalves C, Barbot J
Cell Prolif 2010 Dec;43(6):573-8. doi: 10.1111/j.1365-2184.2010.00706.x. PMID: 21039995

Recent systematic reviews

Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, Cody JD
Am J Med Genet A 2015 Feb;167A(2):313-23. Epub 2015 Jan 14 doi: 10.1002/ajmg.a.36880. [Epub ahead of print] PMID: 25586871
Dong S, Liu Y, Chen J
Tumour Biol 2014 Sep;35(9):8913-9. Epub 2014 Jun 4 doi: 10.1007/s13277-014-2082-y. [Epub ahead of print] PMID: 24894669
Dhillon VS, Thomas P, Iarmarcovai G, Kirsch-Volders M, Bonassi S, Fenech M
Mutagenesis 2011 Jan;26(1):33-42. doi: 10.1093/mutage/geq076. PMID: 21164180
Gollin SM
Semin Cancer Biol 2007 Feb;17(1):74-9. Epub 2006 Oct 26 doi: 10.1016/j.semcancer.2006.10.002. [Epub ahead of print] PMID: 17157028Free PMC Article
Niehues T, Schellong G, Dörffel W, Bucsky P, Mann G, Körholz D, Göbel U
Klin Padiatr 2003 Nov-Dec;215(6):315-20. doi: 10.1055/s-2003-45498. PMID: 14677095

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