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Chromosomal Instability

MedGen UID:
263436
Concept ID:
C1257806
Cell or Molecular Dysfunction
Synonyms: Chromosomal Instabilities; Chromosome Instabilities; Chromosome Instability; Instabilities, Chromosomal; Instabilities, Chromosome; Instability, Chromosomal; Instability, Chromosome

Definition

The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosomal Instability

Professional guidelines

PubMed

Punzón-Jiménez P, Lago V, Domingo S, Simón C, Mas A
Int J Mol Sci 2022 Nov 9;23(22) doi: 10.3390/ijms232213777. PMID: 36430255Free PMC Article
Biermann J, Melms JC, Amin AD, Wang Y, Caprio LA, Karz A, Tagore S, Barrera I, Ibarra-Arellano MA, Andreatta M, Fullerton BT, Gretarsson KH, Sahu V, Mangipudy VS, Nguyen TTT, Nair A, Rogava M, Ho P, Koch PD, Banu M, Humala N, Mahajan A, Walsh ZH, Shah SB, Vaccaro DH, Caldwell B, Mu M, Wünnemann F, Chazotte M, Berhe S, Luoma AM, Driver J, Ingham M, Khan SA, Rapisuwon S, Slingluff CL Jr, Eigentler T, Röcken M, Carvajal R, Atkins MB, Davies MA, Agustinus A, Bakhoum SF, Azizi E, Siegelin M, Lu C, Carmona SJ, Hibshoosh H, Ribas A, Canoll P, Bruce JN, Bi WL, Agrawal P, Schapiro D, Hernando E, Macosko EZ, Chen F, Schwartz GK, Izar B
Cell 2022 Jul 7;185(14):2591-2608.e30. doi: 10.1016/j.cell.2022.06.007. PMID: 35803246Free PMC Article
Mas A, Simón C
Biol Reprod 2019 Dec 24;101(6):1115-1123. doi: 10.1093/biolre/ioy195. PMID: 30184111

Recent clinical studies

Etiology

Ognibene M, De Marco P, Amoroso L, Fragola M, Zara F, Parodi S, Pezzolo A
Int J Mol Sci 2023 Oct 24;24(21) doi: 10.3390/ijms242115514. PMID: 37958497Free PMC Article
Mastronikolis S, Adamopoulou M, Papouliakos S, Manoli A, Katsinis S, Makri O, Monastirioti AE, Tsiambas E, Georgakopoulos C
J BUON 2021 Jul-Aug;26(4):1194-1197. PMID: 34564968
Neuse CJ, Lomas OC, Schliemann C, Shen YJ, Manier S, Bustoros M, Ghobrial IM
Leukemia 2020 Nov;34(11):2887-2897. Epub 2020 Jul 10 doi: 10.1038/s41375-020-0921-y. PMID: 32651540
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
Tischkowitz MD, Hodgson SV
J Med Genet 2003 Jan;40(1):1-10. doi: 10.1136/jmg.40.1.1. PMID: 12525534Free PMC Article

Diagnosis

Chou J, Kaller M, Jaeckel S, Rokavec M, Hermeking H
Mol Cancer 2022 May 27;21(1):120. doi: 10.1186/s12943-022-01581-1. PMID: 35624466Free PMC Article
Lukow DA, Sausville EL, Suri P, Chunduri NK, Wieland A, Leu J, Smith JC, Girish V, Kumar AA, Kendall J, Wang Z, Storchova Z, Sheltzer JM
Dev Cell 2021 Sep 13;56(17):2427-2439.e4. Epub 2021 Aug 4 doi: 10.1016/j.devcel.2021.07.009. PMID: 34352222Free PMC Article
Lopes D, Maiato H
Cells 2020 Oct 26;9(11) doi: 10.3390/cells9112356. PMID: 33114575Free PMC Article
Harada S, Morlote D
Adv Anat Pathol 2020 Jan;27(1):20-26. doi: 10.1097/PAP.0000000000000247. PMID: 31503031
Lee S, Kopp F, Chang TC, Sataluri A, Chen B, Sivakumar S, Yu H, Xie Y, Mendell JT
Cell 2016 Jan 14;164(1-2):69-80. Epub 2015 Dec 24 doi: 10.1016/j.cell.2015.12.017. PMID: 26724866Free PMC Article

Therapy

Liu APY, Smith KS, Kumar R, Paul L, Bihannic L, Lin T, Maass KK, Pajtler KW, Chintagumpala M, Su JM, Bouffet E, Fisher MJ, Gururangan S, Cohn R, Hassall T, Hansford JR, Klimo P Jr, Boop FA, Stewart CF, Harreld JH, Merchant TE, Tatevossian RG, Neale G, Lear M, Klco JM, Orr BA, Ellison DW, Gilbertson RJ, Onar-Thomas A, Gajjar A, Robinson GW, Northcott PA
Cancer Cell 2021 Nov 8;39(11):1519-1530.e4. Epub 2021 Oct 21 doi: 10.1016/j.ccell.2021.09.012. PMID: 34678152Free PMC Article
Lindskrog SV, Prip F, Lamy P, Taber A, Groeneveld CS, Birkenkamp-Demtröder K, Jensen JB, Strandgaard T, Nordentoft I, Christensen E, Sokac M, Birkbak NJ, Maretty L, Hermann GG, Petersen AC, Weyerer V, Grimm MO, Horstmann M, Sjödahl G, Höglund M, Steiniche T, Mogensen K, de Reyniès A, Nawroth R, Jordan B, Lin X, Dragicevic D, Ward DG, Goel A, Hurst CD, Raman JD, Warrick JI, Segersten U, Sikic D, van Kessel KEM, Maurer T, Meeks JJ, DeGraff DJ, Bryan RT, Knowles MA, Simic T, Hartmann A, Zwarthoff EC, Malmström PU, Malats N, Real FX, Dyrskjøt L
Nat Commun 2021 Apr 16;12(1):2301. doi: 10.1038/s41467-021-22465-w. PMID: 33863885Free PMC Article
Chen B, Dragomir MP, Fabris L, Bayraktar R, Knutsen E, Liu X, Tang C, Li Y, Shimura T, Ivkovic TC, De Los Santos MC, Anfossi S, Shimizu M, Shah MY, Ling H, Shen P, Multani AS, Pardini B, Burks JK, Katayama H, Reineke LC, Huo L, Syed M, Song S, Ferracin M, Oki E, Fromm B, Ivan C, Bhuvaneshwar K, Gusev Y, Mimori K, Menter D, Sen S, Matsuyama T, Uetake H, Vasilescu C, Kopetz S, Parker-Thornburg J, Taguchi A, Hanash SM, Girnita L, Slaby O, Goel A, Varani G, Gagea M, Li C, Ajani JA, Calin GA
Gastroenterology 2020 Dec;159(6):2146-2162.e33. Epub 2020 Aug 15 doi: 10.1053/j.gastro.2020.08.018. PMID: 32805281Free PMC Article
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
Malumbres M, Barbacid M
Nat Rev Cancer 2009 Mar;9(3):153-66. doi: 10.1038/nrc2602. PMID: 19238148

Prognosis

Drews RM, Hernando B, Tarabichi M, Haase K, Lesluyes T, Smith PS, Morrill Gavarró L, Couturier DL, Liu L, Schneider M, Brenton JD, Van Loo P, Macintyre G, Markowetz F
Nature 2022 Jun;606(7916):976-983. Epub 2022 Jun 15 doi: 10.1038/s41586-022-04789-9. PMID: 35705807Free PMC Article
Lopes D, Maiato H
Cells 2020 Oct 26;9(11) doi: 10.3390/cells9112356. PMID: 33114575Free PMC Article
Harada S, Morlote D
Adv Anat Pathol 2020 Jan;27(1):20-26. doi: 10.1097/PAP.0000000000000247. PMID: 31503031
Bakhoum SF, Cantley LC
Cell 2018 Sep 6;174(6):1347-1360. doi: 10.1016/j.cell.2018.08.027. PMID: 30193109Free PMC Article
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article

Clinical prediction guides

Drews RM, Hernando B, Tarabichi M, Haase K, Lesluyes T, Smith PS, Morrill Gavarró L, Couturier DL, Liu L, Schneider M, Brenton JD, Van Loo P, Macintyre G, Markowetz F
Nature 2022 Jun;606(7916):976-983. Epub 2022 Jun 15 doi: 10.1038/s41586-022-04789-9. PMID: 35705807Free PMC Article
Scribano CM, Wan J, Esbona K, Tucker JB, Lasek A, Zhou AS, Zasadil LM, Molini R, Fitzgerald J, Lager AM, Laffin JJ, Correia-Staudt K, Wisinski KB, Tevaarwerk AJ, O'Regan R, McGregor SM, Fowler AM, Chappell RJ, Bugni TS, Burkard ME, Weaver BA
Sci Transl Med 2021 Sep 8;13(610):eabd4811. doi: 10.1126/scitranslmed.abd4811. PMID: 34516829Free PMC Article
Lukow DA, Sausville EL, Suri P, Chunduri NK, Wieland A, Leu J, Smith JC, Girish V, Kumar AA, Kendall J, Wang Z, Storchova Z, Sheltzer JM
Dev Cell 2021 Sep 13;56(17):2427-2439.e4. Epub 2021 Aug 4 doi: 10.1016/j.devcel.2021.07.009. PMID: 34352222Free PMC Article
Müller MF, Ibrahim AE, Arends MJ
Virchows Arch 2016 Aug;469(2):125-34. Epub 2016 Jun 20 doi: 10.1007/s00428-016-1956-3. PMID: 27325016Free PMC Article
Pino MS, Chung DC
Gastroenterology 2010 Jun;138(6):2059-72. doi: 10.1053/j.gastro.2009.12.065. PMID: 20420946Free PMC Article

Recent systematic reviews

Aggarwal N, Quaglia A, McPhail MJW, Monahan KJ
Int J Colorectal Dis 2022 Jan;37(1):35-46. Epub 2021 Oct 22 doi: 10.1007/s00384-021-04046-x. PMID: 34677685Free PMC Article
Findlay JM, Middleton MR, Tomlinson I
Dig Dis Sci 2016 Jan;61(1):25-38. Epub 2015 Oct 7 doi: 10.1007/s10620-015-3884-5. PMID: 26445852Free PMC Article
Szylberg Ł, Janiczek M, Popiel A, Marszałek A
Adv Clin Exp Med 2015 Jul-Aug;24(4):555-63. doi: 10.17219/acem/31239. PMID: 26469098
Findlay JM, Middleton MR, Tomlinson I
Ann Oncol 2015 Apr;26(4):624-644. Epub 2014 Sep 11 doi: 10.1093/annonc/mdu449. PMID: 25214541Free PMC Article
Mao X, Lillington DM, Czepulkowski B, Russell-Jones R, Young BD, Whittaker S
Genes Chromosomes Cancer 2003 Mar;36(3):250-60. doi: 10.1002/gcc.10152. PMID: 12557225

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