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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

Molecular Management of High-Grade Serous Ovarian Carcinoma.
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
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
Multiplex profiling of peritoneal metastases from gastric adenocarcinoma identified novel targets and molecular subtypes that predict treatment response.
Wang R, Song S, Harada K, Ghazanfari Amlashi F, Badgwell B, Pizzi MP, Xu Y, Zhao W, Dong X, Jin J, Wang Y, Scott A, Ma L, Huo L, Vicente D, Blum Murphy M, Shanbhag N, Tatlonghari G, Thomas I, Rogers J, Kobayashi M, Vykoukal J, Estrella JS, Roy-Chowdhuri S, Han G, Zhang S, Mao X, Song X, Zhang J, Gu J, Johnson RL, Calin GA, Peng G, Lee JS, Hanash SM, Futreal A, Wang Z, Wang L, Ajani JA
Gut 2020 Jan;69(1):18-31. Epub 2019 Jun 6 doi: 10.1136/gutjnl-2018-318070. PMID: 31171626Free PMC Article

Recent clinical studies

Etiology

Molecular Mechanisms of Colon Cancer Progression and Metastasis: Recent Insights and Advancements.
Malki A, ElRuz RA, Gupta I, Allouch A, Vranic S, Al Moustafa AE
Int J Mol Sci 2020 Dec 24;22(1) doi: 10.3390/ijms22010130. PMID: 33374459Free PMC Article
Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences.
García-de-Teresa B, Rodríguez A, Frias S
Genes (Basel) 2020 Dec 21;11(12) doi: 10.3390/genes11121528. PMID: 33371494Free PMC Article
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
Fanconi anaemia.
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

Colorectal Cancer Biology, Diagnosis, and Therapeutic Approaches.
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
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
Mechanisms of Genomic Instability in Breast Cancer.
Duijf PHG, Nanayakkara D, Nones K, Srihari S, Kalimutho M, Khanna KK
Trends Mol Med 2019 Jul;25(7):595-611. Epub 2019 May 8 doi: 10.1016/j.molmed.2019.04.004. PMID: 31078431
Colorectal Cancer in the Young.
Patel SG, Ahnen DJ
Curr Gastroenterol Rep 2018 Mar 28;20(4):15. doi: 10.1007/s11894-018-0618-9. PMID: 29616330

Therapy

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
Effects of Titanium Dioxide Nanoparticles Exposure on Human Health-a Review.
Baranowska-Wójcik E, Szwajgier D, Oleszczuk P, Winiarska-Mieczan A
Biol Trace Elem Res 2020 Jan;193(1):118-129. Epub 2019 Apr 13 doi: 10.1007/s12011-019-01706-6. PMID: 30982201Free PMC Article
Colorectal Cancer in the Young.
Patel SG, Ahnen DJ
Curr Gastroenterol Rep 2018 Mar 28;20(4):15. doi: 10.1007/s11894-018-0618-9. PMID: 29616330
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
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
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
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
Determinants and clinical implications of chromosomal instability in cancer.
Sansregret L, Vanhaesebroeck B, Swanton C
Nat Rev Clin Oncol 2018 Mar;15(3):139-150. Epub 2018 Jan 3 doi: 10.1038/nrclinonc.2017.198. PMID: 29297505
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
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
20-Year Comparative Survival and Mortality of Cancer of the Stomach by Age, Sex, Race, Stage, Grade, Cohort Entry Time-Period, Disease Duration & Selected ICD-O-3 Oncologic Phenotypes: A Systematic Review of 157,258 Cases for Diagnosis Years 1973-2014: (SEER*Stat 8.3.4).
Milano AF
J Insur Med 2019;48(1):5-23. Epub 2019 Oct 14 doi: 10.17849/insm-48-1-1-19.1. PMID: 31609640
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

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