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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

Allele-specific transcriptional effects of subclonal copy number alterations enable genotype-phenotype mapping in cancer cells.
Shi H, Williams MJ, Satas G, Weiner AC, McPherson A, Shah SP
Nat Commun 2024 Mar 20;15(1):2482. doi: 10.1038/s41467-024-46710-0. PMID: 38509111Free PMC Article
Dissecting the treatment-naive ecosystem of human melanoma brain metastasis.
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
Targeting cell cycle by β-carboline alkaloids in vitro: Novel therapeutic prospects for the treatment of cancer.
Ahmad I, Fakhri S, Khan H, Jeandet P, Aschner M, Yu ZL
Chem Biol Interact 2020 Oct 1;330:109229. Epub 2020 Aug 21 doi: 10.1016/j.cbi.2020.109229. PMID: 32835667

Recent clinical studies

Etiology

Genomic instability signals offer diagnostic possibility in early cancer detection.
Killcoyne S, Yusuf A, Fitzgerald RC
Trends Genet 2021 Nov;37(11):966-972. Epub 2021 Jul 1 doi: 10.1016/j.tig.2021.06.009. PMID: 34218956
Unraveling pathologies underlying chromosomal instability in cancers.
Jo M, Kusano Y, Hirota T
Cancer Sci 2021 Aug;112(8):2975-2983. Epub 2021 Jun 11 doi: 10.1111/cas.14989. PMID: 34032342Free PMC Article
A tumor suppressive DNA translocase named FANCM.
Basbous J, Constantinou A
Crit Rev Biochem Mol Biol 2019 Feb;54(1):27-40. Epub 2019 Feb 4 doi: 10.1080/10409238.2019.1568963. PMID: 30714416
Molecular pathological classification of colorectal cancer.
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
RecQ helicases: multifunctional genome caretakers.
Chu WK, Hickson ID
Nat Rev Cancer 2009 Sep;9(9):644-54. Epub 2009 Aug 6 doi: 10.1038/nrc2682. PMID: 19657341

Diagnosis

Sporadic Polyps of the Colorectum.
Brown I, Bettington M
Gastroenterol Clin North Am 2024 Mar;53(1):155-177. Epub 2023 Dec 9 doi: 10.1016/j.gtc.2023.10.002. PMID: 38280746
The CIP2A-TOPBP1 complex safeguards chromosomal stability during mitosis.
De Marco Zompit M, Esteban MT, Mooser C, Adam S, Rossi SE, Jeanrenaud A, Leimbacher PA, Fink D, Shorrocks AK, Blackford AN, Durocher D, Stucki M
Nat Commun 2022 Jul 16;13(1):4143. doi: 10.1038/s41467-022-31865-5. PMID: 35842428Free PMC Article
Chromosomal instability accelerates the evolution of resistance to anti-cancer therapies.
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
Noncoding RNA NORAD Regulates Genomic Stability by Sequestering PUMILIO Proteins.
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
Nijmegen breakage syndrome.
Kondratenko I, Paschenko O, Polyakov A, Bologov A
Adv Exp Med Biol 2007;601:61-7. doi: 10.1007/978-0-387-72005-0_6. PMID: 17712992

Therapy

The genomic landscape of 2,023 colorectal cancers.
Cornish AJ, Gruber AJ, Kinnersley B, Chubb D, Frangou A, Caravagna G, Noyvert B, Lakatos E, Wood HM, Thorn S, Culliford R, Arnedo-Pac C, Househam J, Cross W, Sud A, Law P, Leathlobhair MN, Hawari A, Woolley C, Sherwood K, Feeley N, Gül G, Fernandez-Tajes J, Zapata L, Alexandrov LB, Murugaesu N, Sosinsky A, Mitchell J, Lopez-Bigas N, Quirke P, Church DN, Tomlinson IPM, Sottoriva A, Graham TA, Wedge DC, Houlston RS
Nature 2024 Sep;633(8028):127-136. Epub 2024 Aug 7 doi: 10.1038/s41586-024-07747-9. PMID: 39112709Free PMC Article
Targeting chromosomal instability in patients with cancer.
Al-Rawi DH, Lettera E, Li J, DiBona M, Bakhoum SF
Nat Rev Clin Oncol 2024 Sep;21(9):645-659. Epub 2024 Jul 11 doi: 10.1038/s41571-024-00923-w. PMID: 38992122
Serial assessment of measurable residual disease in medulloblastoma liquid biopsies.
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
STAG Mutations in Cancer.
Romero-Pérez L, Surdez D, Brunet E, Delattre O, Grünewald TGP
Trends Cancer 2019 Aug;5(8):506-520. Epub 2019 Jul 31 doi: 10.1016/j.trecan.2019.07.001. PMID: 31421907
Cell cycle, CDKs and cancer: a changing paradigm.
Malumbres M, Barbacid M
Nat Rev Cancer 2009 Mar;9(3):153-66. doi: 10.1038/nrc2602. PMID: 19238148

Prognosis

A pan-cancer compendium of chromosomal instability.
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
Resolving genetic heterogeneity in cancer.
Turajlic S, Sottoriva A, Graham T, Swanton C
Nat Rev Genet 2019 Jul;20(7):404-416. doi: 10.1038/s41576-019-0114-6. PMID: 30918367
Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma.
Sung WK, Zheng H, Li S, Chen R, Liu X, Li Y, Lee NP, Lee WH, Ariyaratne PN, Tennakoon C, Mulawadi FH, Wong KF, Liu AM, Poon RT, Fan ST, Chan KL, Gong Z, Hu Y, Lin Z, Wang G, Zhang Q, Barber TD, Chou WC, Aggarwal A, Hao K, Zhou W, Zhang C, Hardwick J, Buser C, Xu J, Kan Z, Dai H, Mao M, Reinhard C, Wang J, Luk JM
Nat Genet 2012 May 27;44(7):765-9. doi: 10.1038/ng.2295. PMID: 22634754
Mechanisms of chromosomal instability.
Thompson SL, Bakhoum SF, Compton DA
Curr Biol 2010 Mar 23;20(6):R285-95. doi: 10.1016/j.cub.2010.01.034. PMID: 20334839Free PMC Article
Aneuploidy and cancer.
Rajagopalan H, Lengauer C
Nature 2004 Nov 18;432(7015):338-41. doi: 10.1038/nature03099. PMID: 15549096

Clinical prediction guides

Chromosomal instability-induced cell invasion through caspase-driven DNA damage.
Barrio L, Gaspar AE, Muzzopappa M, Ghosh K, Romao D, Clemente-Ruiz M, Milán M
Curr Biol 2023 Oct 23;33(20):4446-4457.e5. Epub 2023 Sep 25 doi: 10.1016/j.cub.2023.09.004. PMID: 37751744
Chromosomal instability accelerates the evolution of resistance to anti-cancer therapies.
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
Aneuploidy and tumorigenesis in Drosophila.
Milán M, Clemente-Ruiz M, Dekanty A, Muzzopappa M
Semin Cell Dev Biol 2014 Apr;28:110-5. Epub 2014 Mar 15 doi: 10.1016/j.semcdb.2014.03.014. PMID: 24641887
Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma.
Sung WK, Zheng H, Li S, Chen R, Liu X, Li Y, Lee NP, Lee WH, Ariyaratne PN, Tennakoon C, Mulawadi FH, Wong KF, Liu AM, Poon RT, Fan ST, Chan KL, Gong Z, Hu Y, Lin Z, Wang G, Zhang Q, Barber TD, Chou WC, Aggarwal A, Hao K, Zhou W, Zhang C, Hardwick J, Buser C, Xu J, Kan Z, Dai H, Mao M, Reinhard C, Wang J, Luk JM
Nat Genet 2012 May 27;44(7):765-9. doi: 10.1038/ng.2295. PMID: 22634754
Aneuploidy and cancer.
Rajagopalan H, Lengauer C
Nature 2004 Nov 18;432(7015):338-41. doi: 10.1038/nature03099. PMID: 15549096

Recent systematic reviews

Systematic review and meta-analysis of tumour microsatellite-instability status as a predictor of response to fluorouracil-based adjuvant chemotherapy in colorectal cancer.
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
Patterns of Gene Expression in Cutaneous T-Cell Lymphoma: Systematic Review of Transcriptomic Studies in Mycosis Fungoides.
Motamedi M, Xiao MZX, Iyer A, Gniadecki R
Cells 2021 Jun 6;10(6) doi: 10.3390/cells10061409. PMID: 34204115Free PMC Article
Genetic Biomarkers of Barrett's Esophagus Susceptibility and Progression to Dysplasia and Cancer: A Systematic Review and Meta-Analysis.
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
Large Bowel Genetic Background and Inflammatory Processes in Carcinogenesis--Systematic Review.
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
MicroRNAs in renal cell carcinoma: a systematic review of clinical implications (Review).
Li M, Wang Y, Song Y, Bu R, Yin B, Fei X, Guo Q, Wu B
Oncol Rep 2015 Apr;33(4):1571-8. Epub 2015 Feb 13 doi: 10.3892/or.2015.3799. PMID: 25682771Free PMC Article

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