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Loss of Chromosome 12

MedGen UID:
274697
•Concept ID:
C1517954
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that refers to loss of all or part of chromosome 12. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 12

Recent clinical studies

Etiology

Genomic characterization of hepatoid tumors: context matters.
Lawlor RT, Mafficini A, Sciammarella C, Cantù C, Rusev BC, Piredda ML, Antonello D, Grimaldi S, Bonizzato G, Sperandio N, Marchegiani G, Malleo G, Pea A, Salvia R, Mombello A, Mazzoleni G, Nottegar A, Hanspeter E, Riva G, Tomezzoli A, Bencivenga M, de Manzoni G, Pedron S, Paolino G, Mattiolo P, Brosens LA, Silvestris N, Fassan M, Cooke SL, Beer PA, Milella M, Adsay VN, Cheng L, Scarpa A, Luchini C
Hum Pathol 2021 Dec;118:30-41. Epub 2021 Sep 22 doi: 10.1016/j.humpath.2021.09.006. PMID: 34562502
Chromosome microarray characterisation of chromosome arm 12p loss associated with complex molecular karyotype and recurrent adverse cytogenetic markers in multiple myeloma.
Hung D, Lenton D, Eslick R, Blennerhassett R, Joshi M, McCaughan G, Day S, Wright D
Genes Chromosomes Cancer 2021 Oct;60(10):668-677. Epub 2021 Jun 7 doi: 10.1002/gcc.22975. PMID: 34041820
SMAD4 haploinsufficiency in small intestinal neuroendocrine tumors.
Hofving T, Elias E, Rehammar A, Inge L, Altiparmak G, Persson M, Kristiansson E, Johansson ME, Nilsson O, Arvidsson Y
BMC Cancer 2021 Jan 28;21(1):101. doi: 10.1186/s12885-021-07786-9. PMID: 33509126Free PMC Article
KRAS and aneusomy of chromosomes 4, 10 and 12 in colorectal carcinomas.
Beyer K, Altendorf-Hofmann A, Chen Y, Bickel K, Petersen I
Pathol Res Pract 2015 Sep;211(9):646-51. Epub 2015 May 27 doi: 10.1016/j.prp.2015.05.008. PMID: 26122820
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW
Neurology 2004 May 11;62(9):1619-22. doi: 10.1212/01.wnl.0000125015.06989.db. PMID: 15136696

Diagnosis

KRAS and aneusomy of chromosomes 4, 10 and 12 in colorectal carcinomas.
Beyer K, Altendorf-Hofmann A, Chen Y, Bickel K, Petersen I
Pathol Res Pract 2015 Sep;211(9):646-51. Epub 2015 May 27 doi: 10.1016/j.prp.2015.05.008. PMID: 26122820
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC
Am J Med Genet A 2013 Oct;161A(10):2663-5. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36081. PMID: 23918474
Molecular mechanisms of pancreatic carcinogenesis.
Furukawa T, Sunamura M, Horii A
Cancer Sci 2006 Jan;97(1):1-7. doi: 10.1111/j.1349-7006.2005.00134.x. PMID: 16367914Free PMC Article
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW
Neurology 2004 May 11;62(9):1619-22. doi: 10.1212/01.wnl.0000125015.06989.db. PMID: 15136696
Pallister-Killian syndrome: an unusual presentation.
el-Naggar M, Hawthorne M
J Laryngol Otol 1994 Aug;108(8):669-70. PMID: 7930917

Therapy

ANO2 Genetic Variants and Anti-VEGF Treatment Response in Neovascular AMD: A Pharmacogenetic Substudy of VIEW 1 and VIEW 2.
Guymer RH, Silva R, Ghadessi M, Leal S, Gashaw I, Damask A, Paulding C, Rittenhouse KD
Invest Ophthalmol Vis Sci 2024 Jul 1;65(8):17. doi: 10.1167/iovs.65.8.17. PMID: 38980270Free PMC Article
Genomic characterization of hepatoid tumors: context matters.
Lawlor RT, Mafficini A, Sciammarella C, Cantù C, Rusev BC, Piredda ML, Antonello D, Grimaldi S, Bonizzato G, Sperandio N, Marchegiani G, Malleo G, Pea A, Salvia R, Mombello A, Mazzoleni G, Nottegar A, Hanspeter E, Riva G, Tomezzoli A, Bencivenga M, de Manzoni G, Pedron S, Paolino G, Mattiolo P, Brosens LA, Silvestris N, Fassan M, Cooke SL, Beer PA, Milella M, Adsay VN, Cheng L, Scarpa A, Luchini C
Hum Pathol 2021 Dec;118:30-41. Epub 2021 Sep 22 doi: 10.1016/j.humpath.2021.09.006. PMID: 34562502
Induction of hepatocellular carcinoma by in vivo gene targeting.
Wang PR, Xu M, Toffanin S, Li Y, Llovet JM, Russell DW
Proc Natl Acad Sci U S A 2012 Jul 10;109(28):11264-9. Epub 2012 Jun 25 doi: 10.1073/pnas.1117032109. PMID: 22733778Free PMC Article
Long-term study of the clinical significance of loss of heterozygosity in childhood acute lymphoblastic leukemia.
Takeuchi S, Tsukasaki K, Bartram CR, Seriu T, Zimmermann M, Schrappe M, Takeuchi N, Park S, Taguchi H, Koeffler HP
Leukemia 2003 Jan;17(1):149-54. doi: 10.1038/sj.leu.2402727. PMID: 12529672
First insights into the molecular basis of pleomorphic adenomas of the salivary glands.
Voz ML, Van de Ven WJ, Kas K
Adv Dent Res 2000 Dec;14:81-3. doi: 10.1177/08959374000140011301. PMID: 11842929

Prognosis

Chromosome 12 Open Reading Frame 49 Promotes Tumor Growth and Predicts Poor Prognosis in Colorectal Cancer.
Tao Y, Luo J, Zhu H, Chu Y, Pei L
Dig Dis Sci 2023 Apr;68(4):1306-1315. Epub 2022 Nov 8 doi: 10.1007/s10620-022-07751-x. PMID: 36348128Free PMC Article
A large fraction of trisomy 12, 17p(-), and 11q(-) CLL cases carry unidentified microdeletions of miR-15a/16-1.
Pepe F, Rassenti LZ, Pekarsky Y, Labanowska J, Nakamura T, Nigita G, Kipps TJ, Balatti V, Croce CM
Proc Natl Acad Sci U S A 2022 Jan 25;119(4) doi: 10.1073/pnas.2118752119. PMID: 35064090Free PMC Article
SMAD4 haploinsufficiency in small intestinal neuroendocrine tumors.
Hofving T, Elias E, Rehammar A, Inge L, Altiparmak G, Persson M, Kristiansson E, Johansson ME, Nilsson O, Arvidsson Y
BMC Cancer 2021 Jan 28;21(1):101. doi: 10.1186/s12885-021-07786-9. PMID: 33509126Free PMC Article
KRAS and aneusomy of chromosomes 4, 10 and 12 in colorectal carcinomas.
Beyer K, Altendorf-Hofmann A, Chen Y, Bickel K, Petersen I
Pathol Res Pract 2015 Sep;211(9):646-51. Epub 2015 May 27 doi: 10.1016/j.prp.2015.05.008. PMID: 26122820
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW
Neurology 2004 May 11;62(9):1619-22. doi: 10.1212/01.wnl.0000125015.06989.db. PMID: 15136696

Clinical prediction guides

Genomic Insights Into High-Grade Infarct-Associated Bone Sarcomas.
Tvrdik T, Gjeorgjievski SG, Wong P, Oskouei S, Read W, Bahrami A
Mod Pathol 2024 Oct;37(10):100572. Epub 2024 Jul 20 doi: 10.1016/j.modpat.2024.100572. PMID: 39033963
Chromosome 12 Open Reading Frame 49 Promotes Tumor Growth and Predicts Poor Prognosis in Colorectal Cancer.
Tao Y, Luo J, Zhu H, Chu Y, Pei L
Dig Dis Sci 2023 Apr;68(4):1306-1315. Epub 2022 Nov 8 doi: 10.1007/s10620-022-07751-x. PMID: 36348128Free PMC Article
Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma.
Liu W, Tong H, Zhang C, Zhuang R, Guo H, Lv C, Yang H, Lin Q, Guo X, Wang Z, Wang Y, Shen F, Wang S, Dai C, Wang G, Liu J, Lu W, Zhang Y, Zhou Y
BMC Cancer 2020 Oct 28;20(1):1035. doi: 10.1186/s12885-020-07456-2. PMID: 33115433Free PMC Article
KRAS and aneusomy of chromosomes 4, 10 and 12 in colorectal carcinomas.
Beyer K, Altendorf-Hofmann A, Chen Y, Bickel K, Petersen I
Pathol Res Pract 2015 Sep;211(9):646-51. Epub 2015 May 27 doi: 10.1016/j.prp.2015.05.008. PMID: 26122820
A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter.
Blanton SH, Liang CY, Cai MW, Pandya A, Du LL, Landa B, Mummalanni S, Li KS, Chen ZY, Qin XN, Liu YF, Balkany T, Nance WE, Liu XZ
J Med Genet 2002 Aug;39(8):567-70. doi: 10.1136/jmg.39.8.567. PMID: 12161595Free PMC Article

Recent systematic reviews

Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review.
Deng C, Dai R, Li X, Liu F
Cancer Sci 2016 May;107(5):690-9. Epub 2016 Mar 18 doi: 10.1111/cas.12910. PMID: 26892980Free PMC Article

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