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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

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
Molecular differential diagnosis of uterine leiomyomas and leiomyosarcomas.
Mas A, Simón C
Biol Reprod 2019 Dec 24;101(6):1115-1123. doi: 10.1093/biolre/ioy195. PMID: 30184111
Recent Developments in the Diagnosis and Management of Photosensitive Disorders.
Nahhas AF, Oberlin DM, Braunberger TL, Lim HW
Am J Clin Dermatol 2018 Oct;19(5):707-731. doi: 10.1007/s40257-018-0365-6. PMID: 29959757

Recent clinical studies

Etiology

Neuroblastoma Patients' Outcome and Chromosomal Instability.
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
Mutational landscape in Uveal Melanoma.
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
Genome instability in multiple myeloma.
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
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
Centrosomes, polyploidy and cancer.
Duensing A, Duensing S
Adv Exp Med Biol 2010;676:93-103. doi: 10.1007/978-1-4419-6199-0_6. PMID: 20687471

Diagnosis

AP4 suppresses DNA damage, chromosomal instability and senescence via inducing MDC1/Mediator of DNA damage Checkpoint 1 and repressing MIR22HG/miR-22-3p.
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
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
The Tubulin Code in Mitosis and Cancer.
Lopes D, Maiato H
Cells 2020 Oct 26;9(11) doi: 10.3390/cells9112356. PMID: 33114575Free PMC Article
Molecular Pathology of Colorectal Cancer.
Harada S, Morlote D
Adv Anat Pathol 2020 Jan;27(1):20-26. doi: 10.1097/PAP.0000000000000247. PMID: 31503031
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

Therapy

Type I interferon and cancer.
Holicek P, Guilbaud E, Klapp V, Truxova I, Spisek R, Galluzzi L, Fucikova J
Immunol Rev 2024 Jan;321(1):115-127. Epub 2023 Sep 4 doi: 10.1111/imr.13272. PMID: 37667466
An integrated multi-omics analysis identifies prognostic molecular subtypes of non-muscle-invasive bladder cancer.
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
The Long Noncoding RNA CCAT2 Induces Chromosomal Instability Through BOP1-AURKB Signaling.
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
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
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
Molecular Pathology of Colorectal Cancer.
Harada S, Morlote D
Adv Anat Pathol 2020 Jan;27(1):20-26. doi: 10.1097/PAP.0000000000000247. PMID: 31503031
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
The Multifaceted Role of Chromosomal Instability in Cancer and Its Microenvironment.
Bakhoum SF, Cantley LC
Cell 2018 Sep 6;174(6):1347-1360. doi: 10.1016/j.cell.2018.08.027. PMID: 30193109Free PMC Article
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

Clinical prediction guides

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
Chromosomal instability sensitizes patient breast tumors to multipolar divisions induced by paclitaxel.
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
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
Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value.
Marisa L, de Reyniès A, Duval A, Selves J, Gaub MP, Vescovo L, Etienne-Grimaldi MC, Schiappa R, Guenot D, Ayadi M, Kirzin S, Chazal M, Fléjou JF, Benchimol D, Berger A, Lagarde A, Pencreach E, Piard F, Elias D, Parc Y, Olschwang S, Milano G, Laurent-Puig P, Boige V
PLoS Med 2013;10(5):e1001453. Epub 2013 May 21 doi: 10.1371/journal.pmed.1001453. PMID: 23700391Free PMC Article
The chromosomal instability pathway in colon cancer.
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

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
Lymphocyte micronuclei frequencies in skin, haematological, prostate, colorectal and esophageal cancer cases: A systematic review and meta-analysis.
Dhillon VS, Deo P, Bonassi S, Fenech M
Mutat Res Rev Mutat Res 2021 Jan-Jun;787:108372. Epub 2021 Feb 17 doi: 10.1016/j.mrrev.2021.108372. PMID: 34083057
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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