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Gene Amplification Abnormality

MedGen UID:
317152
Concept ID:
C1705759
Cell or Molecular Dysfunction
Synonyms: Amplification; Gene Amplification

Definition

An increase in the copy number of a particular gene. This type of abnormality can be either inherited or somatic. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGene Amplification Abnormality

Professional guidelines

PubMed

Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee
Genet Med 2021 May;23(5):799-812. Epub 2021 Apr 1 doi: 10.1038/s41436-021-01115-y. PMID: 33795824
Tolbert VP, Matthay KK
Cell Tissue Res 2018 May;372(2):195-209. Epub 2018 Mar 23 doi: 10.1007/s00441-018-2821-2. PMID: 29572647Free PMC Article
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Recent clinical studies

Etiology

Russo MJ, Orru CD, Concha-Marambio L, Giaisi S, Groveman BR, Farris CM, Holguin B, Hughson AG, LaFontant DE, Caspell-Garcia C, Coffey CS, Mollon J, Hutten SJ, Merchant K, Heym RG, Soto C, Caughey B, Kang UJ
Acta Neuropathol Commun 2021 Nov 6;9(1):179. doi: 10.1186/s40478-021-01282-8. PMID: 34742348Free PMC Article
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687
Delhanty JD
Prenat Diagn 1994 Dec;14(13):1217-27. doi: 10.1002/pd.1970141307. PMID: 7617568

Diagnosis

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Russo MJ, Orru CD, Concha-Marambio L, Giaisi S, Groveman BR, Farris CM, Holguin B, Hughson AG, LaFontant DE, Caspell-Garcia C, Coffey CS, Mollon J, Hutten SJ, Merchant K, Heym RG, Soto C, Caughey B, Kang UJ
Acta Neuropathol Commun 2021 Nov 6;9(1):179. doi: 10.1186/s40478-021-01282-8. PMID: 34742348Free PMC Article
Elsea SH, Girirajan S
Eur J Hum Genet 2008 Apr;16(4):412-21. Epub 2008 Jan 30 doi: 10.1038/sj.ejhg.5202009. PMID: 18231123
Laxova R
Adv Pediatr 1994;41:305-42. PMID: 7992687
Hirst MC, Knight SJ, Bell MV, Super M, Davies KE
Clin Sci (Lond) 1992 Sep;83(3):255-64. doi: 10.1042/cs0830255. PMID: 1327643

Therapy

Hettmer S, Linardic CM, Kelsey A, Rudzinski ER, Vokuhl C, Selfe J, Ruhen O, Shern JF, Khan J, Kovach AR, Lupo PJ, Gatz SA, Schäfer BW, Volchenboum S, Minard-Colin V, Koscielniak E, Hawkins DS, Bisogno G, Sparber-Sauer M, Venkatramani R, Merks JHM, Shipley J
Eur J Cancer 2022 Sep;172:367-386. Epub 2022 Jul 12 doi: 10.1016/j.ejca.2022.05.036. PMID: 35839732
Yamaoka T, Kusumoto S, Ando K, Ohba M, Ohmori T
Int J Mol Sci 2018 Nov 6;19(11) doi: 10.3390/ijms19113491. PMID: 30404198Free PMC Article
Du Z, Lovly CM
Mol Cancer 2018 Feb 19;17(1):58. doi: 10.1186/s12943-018-0782-4. PMID: 29455648Free PMC Article
Nakagawara A, Li Y, Izumi H, Muramori K, Inada H, Nishi M
Jpn J Clin Oncol 2018 Mar 1;48(3):214-241. doi: 10.1093/jjco/hyx176. PMID: 29378002
Rosenwald A, Wright G, Chan WC, Connors JM, Campo E, Fisher RI, Gascoyne RD, Muller-Hermelink HK, Smeland EB, Giltnane JM, Hurt EM, Zhao H, Averett L, Yang L, Wilson WH, Jaffe ES, Simon R, Klausner RD, Powell J, Duffey PL, Longo DL, Greiner TC, Weisenburger DD, Sanger WG, Dave BJ, Lynch JC, Vose J, Armitage JO, Montserrat E, López-Guillermo A, Grogan TM, Miller TP, LeBlanc M, Ott G, Kvaloy S, Delabie J, Holte H, Krajci P, Stokke T, Staudt LM; Lymphoma/Leukemia Molecular Profiling Project
N Engl J Med 2002 Jun 20;346(25):1937-47. doi: 10.1056/NEJMoa012914. PMID: 12075054

Prognosis

Cheng L, Lyu B, Roth LM
Hum Pathol 2017 Jan;59:10-25. Epub 2016 Aug 26 doi: 10.1016/j.humpath.2016.08.002. PMID: 27569298
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
Coindre JM, Pédeutour F, Aurias A
Virchows Arch 2010 Feb;456(2):167-79. Epub 2009 Aug 18 doi: 10.1007/s00428-009-0815-x. PMID: 19688222
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Clinical prediction guides

Takita J
Cancer Sci 2017 Oct;108(10):1913-1920. Epub 2017 Aug 24 doi: 10.1111/cas.13333. PMID: 28756644Free PMC Article
Cheng L, Lyu B, Roth LM
Hum Pathol 2017 Jan;59:10-25. Epub 2016 Aug 26 doi: 10.1016/j.humpath.2016.08.002. PMID: 27569298
Maris JM, Matthay KK
J Clin Oncol 1999 Jul;17(7):2264-79. doi: 10.1200/JCO.1999.17.7.2264. PMID: 10561284
Solomon E, Borrow J, Goddard AD
Science 1991 Nov 22;254(5035):1153-60. doi: 10.1126/science.1957167. PMID: 1957167
Dimovski A, Efremov DG, Jankovic L, Juricic D, Zisovski N, Stojanovski N, Nikolov N, Petkov GT, Reese AL, Stoming TA
Hemoglobin 1990;14(1):15-24. doi: 10.3109/03630269009002251. PMID: 2200761

Recent systematic reviews

Liu X, Liu X, Han X
Medicine (Baltimore) 2021 Dec 23;100(51):e27690. doi: 10.1097/MD.0000000000027690. PMID: 34941027Free PMC Article
Hu Y, Ai LS, Zhou LQ
PLoS One 2021;16(5):e0251202. Epub 2021 May 14 doi: 10.1371/journal.pone.0251202. PMID: 33989301Free PMC Article
Lee A, Arasaratnam M, Chan DLH, Khasraw M, Howell VM, Wheeler H
Cochrane Database Syst Rev 2020 May 12;5(5):CD013238. doi: 10.1002/14651858.CD013238.pub2. PMID: 32395825Free PMC Article
Zhou K, Xu D, Cao Y, Wang J, Yang Y, Huang M
PLoS One 2014;9(4):e95020. Epub 2014 Apr 16 doi: 10.1371/journal.pone.0095020. PMID: 24740248Free 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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