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Genomic Instability

MedGen UID:
182518
Concept ID:
C0919532
Cell or Molecular Dysfunction
Synonyms: Genome Instabilities; Genome Instability; Genomic Instabilities; Instabilities, Genome; Instabilities, Genomic; Instability, Genome; Instability, Genomic

Definition

A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms of cell-cycle control and mutation rates within aberrant genes. Ataxia telangiectasia is a disease that is resultant from mutations in the ATM gene, which is a cell cycle checkpoint gene. Nijmegen breakage syndrome is also a disease characterized by chromosomal and genomic instability. [from NCI]

Professional guidelines

PubMed

Akhoundova D, Feng FY, Pritchard CC, Rubin MA
Surg Pathol Clin 2022 Dec;15(4):617-628. Epub 2022 Oct 13 doi: 10.1016/j.path.2022.08.002. PMID: 36344179
Copland M
Br J Haematol 2022 Dec;199(5):665-678. Epub 2022 Jul 22 doi: 10.1111/bjh.18370. PMID: 35866251Free PMC Article
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article

Recent clinical studies

Etiology

Salvatori S, Marafini I, Laudisi F, Monteleone G, Stolfi C
Int J Mol Sci 2023 Feb 2;24(3) doi: 10.3390/ijms24032895. PMID: 36769214Free PMC Article
Ferrucci L, Gonzalez-Freire M, Fabbri E, Simonsick E, Tanaka T, Moore Z, Salimi S, Sierra F, de Cabo R
Aging Cell 2020 Feb;19(2):e13080. Epub 2019 Dec 12 doi: 10.1111/acel.13080. PMID: 31833194Free PMC Article
Suman S, Domingues A, Ratajczak J, Ratajczak MZ
Adv Exp Med Biol 2019;1201:1-22. doi: 10.1007/978-3-030-31206-0_1. PMID: 31898779
Gupta SM, Mania-Pramanik J
J Biomed Sci 2019 Apr 23;26(1):28. doi: 10.1186/s12929-019-0520-2. PMID: 31014351Free PMC Article
López-Otín C, Blasco MA, Partridge L, Serrano M, Kroemer G
Cell 2013 Jun 6;153(6):1194-217. doi: 10.1016/j.cell.2013.05.039. PMID: 23746838Free PMC Article

Diagnosis

Salvatori S, Marafini I, Laudisi F, Monteleone G, Stolfi C
Int J Mol Sci 2023 Feb 2;24(3) doi: 10.3390/ijms24032895. PMID: 36769214Free PMC Article
Dharanipragada P, Zhang X, Liu S, Lomeli SH, Hong A, Wang Y, Yang Z, Lo KZ, Vega-Crespo A, Ribas A, Moschos SJ, Moriceau G, Lo RS
Cancer Discov 2023 Apr 3;13(4):880-909. doi: 10.1158/2159-8290.CD-22-0787. PMID: 36700848Free PMC Article
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article
Dagogo-Jack I, Shaw AT
Nat Rev Clin Oncol 2018 Feb;15(2):81-94. Epub 2017 Nov 8 doi: 10.1038/nrclinonc.2017.166. PMID: 29115304
Oshima J, Sidorova JM, Monnat RJ Jr
Ageing Res Rev 2017 Jan;33:105-114. Epub 2016 Mar 15 doi: 10.1016/j.arr.2016.03.002. PMID: 26993153Free PMC Article

Therapy

da Costa AABA, Chowdhury D, Shapiro GI, D'Andrea AD, Konstantinopoulos PA
Nat Rev Drug Discov 2023 Jan;22(1):38-58. Epub 2022 Oct 6 doi: 10.1038/s41573-022-00558-5. PMID: 36202931
Chen S, Gan D, Lin S, Zhong Y, Chen M, Zou X, Shao Z, Xiao G
Theranostics 2022;12(6):2722-2740. Epub 2022 Mar 6 doi: 10.7150/thno.71360. PMID: 35401820Free PMC Article
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article
McGranahan N, Swanton C
Cell 2017 Feb 9;168(4):613-628. doi: 10.1016/j.cell.2017.01.018. PMID: 28187284
O'Connor MJ
Mol Cell 2015 Nov 19;60(4):547-60. doi: 10.1016/j.molcel.2015.10.040. PMID: 26590714

Prognosis

Körber V, Stainczyk SA, Kurilov R, Henrich KO, Hero B, Brors B, Westermann F, Höfer T
Nat Genet 2023 Apr;55(4):619-630. Epub 2023 Mar 27 doi: 10.1038/s41588-023-01332-y. PMID: 36973454Free PMC Article
Soto-Palma C, Niedernhofer LJ, Faulk CD, Dong X
J Clin Invest 2022 Aug 15;132(16) doi: 10.1172/JCI158446. PMID: 35968782Free PMC Article
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article
Dagogo-Jack I, Shaw AT
Nat Rev Clin Oncol 2018 Feb;15(2):81-94. Epub 2017 Nov 8 doi: 10.1038/nrclinonc.2017.166. PMID: 29115304
Negrini S, Gorgoulis VG, Halazonetis TD
Nat Rev Mol Cell Biol 2010 Mar;11(3):220-8. doi: 10.1038/nrm2858. PMID: 20177397

Clinical prediction guides

Golan T, O'Kane GM, Denroche RE, Raitses-Gurevich M, Grant RC, Holter S, Wang Y, Zhang A, Jang GH, Stossel C, Atias D, Halperin S, Berger R, Glick Y, Park JP, Cuggia A, Williamson L, Wong HL, Schaeffer DF, Renouf DJ, Borgida A, Dodd A, Wilson JM, Fischer SE, Notta F, Knox JJ, Zogopoulos G, Gallinger S
Gastroenterology 2021 May;160(6):2119-2132.e9. Epub 2021 Jan 30 doi: 10.1053/j.gastro.2021.01.220. PMID: 33524400
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article
Telli ML, Timms KM, Reid J, Hennessy B, Mills GB, Jensen KC, Szallasi Z, Barry WT, Winer EP, Tung NM, Isakoff SJ, Ryan PD, Greene-Colozzi A, Gutin A, Sangale Z, Iliev D, Neff C, Abkevich V, Jones JT, Lanchbury JS, Hartman AR, Garber JE, Ford JM, Silver DP, Richardson AL
Clin Cancer Res 2016 Aug 1;22(15):3764-73. Epub 2016 Mar 8 doi: 10.1158/1078-0432.CCR-15-2477. PMID: 26957554Free PMC Article
Macheret M, Halazonetis TD
Annu Rev Pathol 2015;10:425-48. doi: 10.1146/annurev-pathol-012414-040424. PMID: 25621662
Negrini S, Gorgoulis VG, Halazonetis TD
Nat Rev Mol Cell Biol 2010 Mar;11(3):220-8. doi: 10.1038/nrm2858. PMID: 20177397

Recent systematic reviews

Asanov M, Bonassi S, Proietti S, Minina VI, Tomino C, El-Zein R
Mutat Res Rev Mutat Res 2021 Jan-Jun;787:108344. Epub 2020 Nov 10 doi: 10.1016/j.mrrev.2020.108344. PMID: 34083053
Miller RE, Leary A, Scott CL, Serra V, Lord CJ, Bowtell D, Chang DK, Garsed DW, Jonkers J, Ledermann JA, Nik-Zainal S, Ray-Coquard I, Shah SP, Matias-Guiu X, Swisher EM, Yates LR
Ann Oncol 2020 Dec;31(12):1606-1622. Epub 2020 Sep 28 doi: 10.1016/j.annonc.2020.08.2102. PMID: 33004253
Tew WP, Lacchetti C, Ellis A, Maxian K, Banerjee S, Bookman M, Jones MB, Lee JM, Lheureux S, Liu JF, Moore KN, Muller C, Rodriguez P, Walsh C, Westin SN, Kohn EC
J Clin Oncol 2020 Oct 20;38(30):3468-3493. Epub 2020 Aug 13 doi: 10.1200/JCO.20.01924. PMID: 32790492Free PMC Article
Sánchez-Flores M, Marcos-Pérez D, Costa S, Teixeira JP, Bonassi S, Pásaro E, Laffon B, Valdiglesias V
Ageing Res Rev 2017 Aug;37:1-15. Epub 2017 May 6 doi: 10.1016/j.arr.2017.05.001. PMID: 28487242
Wang L, Zheng JN, Pei DS
Med Oncol 2016 Aug;33(8):90. Epub 2016 Jul 13 doi: 10.1007/s12032-016-0805-1. PMID: 27412572

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