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Gain of Chromosome 12

MedGen UID:
309187
•Concept ID:
C1517382
•
Cell or Molecular Dysfunction

Term Hierarchy

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

Professional guidelines

PubMed

The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW
Prenat Diagn 2020 Jul;40(8):1005-1012. Epub 2020 May 17 doi: 10.1002/pd.5721. PMID: 32350887
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors.
Looijenga LHJ, Van der Kwast TH, Grignon D, Egevad L, Kristiansen G, Kao CS, Idrees MT
Am J Surg Pathol 2020 Jul;44(7):e66-e79. doi: 10.1097/PAS.0000000000001465. PMID: 32205480Free PMC Article
Dissecting the molecular pathways of (testicular) germ cell tumour pathogenesis; from initiation to treatment-resistance.
Looijenga LH, Gillis AJ, Stoop H, Biermann K, Oosterhuis JW
Int J Androl 2011 Aug;34(4 Pt 2):e234-51. Epub 2011 May 12 doi: 10.1111/j.1365-2605.2011.01157.x. PMID: 21564133

Recent clinical studies

Etiology

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Genes, chromosomes and the development of testicular germ cell tumors of adolescents and adults.
McIntyre A, Gilbert D, Goddard N, Looijenga L, Shipley J
Genes Chromosomes Cancer 2008 Jul;47(7):547-57. doi: 10.1002/gcc.20562. PMID: 18381640
Origins and molecular biology of testicular germ cell tumors.
Reuter VE
Mod Pathol 2005 Feb;18 Suppl 2:S51-60. doi: 10.1038/modpathol.3800309. PMID: 15761466
Role of gain of 12p in germ cell tumour development.
Looijenga LH, Zafarana G, Grygalewicz B, Summersgill B, Debiec-Rychter M, Veltman J, Schoenmakers EF, Rodriguez S, Jafer O, Clark J, van Kessel AG, Shipley J, van Gurp RJ, Gillis AJ, Oosterhuis JW
APMIS 2003 Jan;111(1):161-71; discussion 172-3. doi: 10.1034/j.1600-0463.2003.11101201.x. PMID: 12752258
A molecular model for the development of germ cell cancer.
Looijenga LH, de Munnik H, Oosterhuis JW
Int J Cancer 1999 Dec 10;83(6):809-14. doi: 10.1002/(sici)1097-0215(19991210)83:6<809::aid-ijc20>3.0.co;2-0. PMID: 10597200

Diagnosis

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors.
Looijenga LHJ, Van der Kwast TH, Grignon D, Egevad L, Kristiansen G, Kao CS, Idrees MT
Am J Surg Pathol 2020 Jul;44(7):e66-e79. doi: 10.1097/PAS.0000000000001465. PMID: 32205480Free PMC Article
The chemosensitivity of testicular germ cell tumors.
Voutsadakis IA
Cell Oncol (Dordr) 2014 Apr;37(2):79-94. Epub 2014 Apr 2 doi: 10.1007/s13402-014-0168-6. PMID: 24692098
Molecular events in germ cell tumours: linking chromosome-12 gain, acquisition of pluripotency and response to cisplatin.
Korkola JE, Houldsworth J, Bosl GJ, Chaganti RS
BJU Int 2009 Nov;104(9 Pt B):1334-8. doi: 10.1111/j.1464-410X.2009.08855.x. PMID: 19840009
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article

Therapy

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
Malignant teratoma of the thyroid: A difficult diagnosis by fine-needle aspiration.
Starling CE, Sabra J, Brady B, Horton M, Traweek ST
Diagn Cytopathol 2019 Sep;47(9):930-934. Epub 2019 May 23 doi: 10.1002/dc.24216. PMID: 31120625
The chemosensitivity of testicular germ cell tumors.
Voutsadakis IA
Cell Oncol (Dordr) 2014 Apr;37(2):79-94. Epub 2014 Apr 2 doi: 10.1007/s13402-014-0168-6. PMID: 24692098
Molecular events in germ cell tumours: linking chromosome-12 gain, acquisition of pluripotency and response to cisplatin.
Korkola JE, Houldsworth J, Bosl GJ, Chaganti RS
BJU Int 2009 Nov;104(9 Pt B):1334-8. doi: 10.1111/j.1464-410X.2009.08855.x. PMID: 19840009
Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24.
Wong WT, Carlomagno F, Druck T, Barletta C, Croce CM, Huebner K, Kraus MH, Di Fiore PP
Oncogene 1994 Oct;9(10):3057-61. PMID: 8084614

Prognosis

Cytogenetics of spermatocytic tumors with a discussion of gain of chromosome 12p in anaplastic variants.
Gupta S, Farooq A, Rowsey RA, Rahman MA, Shen W, Herrera-Hernandez L, Raghunathan A, Thompson RH, Boorjian SA, Leibovich BC, Cheville JC, Jimenez RE
Hum Pathol 2022 Jun;124:85-95. Epub 2022 Apr 1 doi: 10.1016/j.humpath.2022.03.012. PMID: 35378115
Chromosomal gains of 12p and 1q are not associated with inferior outcome of pediatric and adolescent germ cell tumors.
Greimelmaier K, Calaminus G, Kristiansen G, Vokuhl C, Klapper W
Pediatr Blood Cancer 2019 Aug;66(8):e27777. Epub 2019 May 2 doi: 10.1002/pbc.27777. PMID: 31045322
Combined Genetic and Chromosomal Characterization of Wilms Tumors Identifies Chromosome 12 Gain as a Potential New Marker Predicting a Favorable Outcome.
Haruta M, Arai Y, Okita H, Tanaka Y, Takimoto T, Sugino RP, Yamada Y, Kamijo T, Oue T, Fukuzawa M, Koshinaga T, Kaneko Y
Neoplasia 2019 Jan;21(1):117-131. Epub 2018 Dec 6 doi: 10.1016/j.neo.2018.10.007. PMID: 30530054Free PMC Article
Clear cell renal cell carcinoma: identifying the gain of chromosome 12 on multiphasic MDCT.
Young JR, Coy H, Douek M, Lo P, Sayre J, Pantuck AJ, Raman SS
Abdom Radiol (NY) 2017 Jan;42(1):236-241. doi: 10.1007/s00261-016-0868-7. PMID: 27519835
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article

Clinical prediction guides

Chromosomal gains of 12p and 1q are not associated with inferior outcome of pediatric and adolescent germ cell tumors.
Greimelmaier K, Calaminus G, Kristiansen G, Vokuhl C, Klapper W
Pediatr Blood Cancer 2019 Aug;66(8):e27777. Epub 2019 May 2 doi: 10.1002/pbc.27777. PMID: 31045322
Combined Genetic and Chromosomal Characterization of Wilms Tumors Identifies Chromosome 12 Gain as a Potential New Marker Predicting a Favorable Outcome.
Haruta M, Arai Y, Okita H, Tanaka Y, Takimoto T, Sugino RP, Yamada Y, Kamijo T, Oue T, Fukuzawa M, Koshinaga T, Kaneko Y
Neoplasia 2019 Jan;21(1):117-131. Epub 2018 Dec 6 doi: 10.1016/j.neo.2018.10.007. PMID: 30530054Free PMC Article
Amplification of chromosome 8q21-qter associated with the acquired paclitaxel resistance of nasopharyngeal carcinoma cells.
Li W, You Y, Zhang X, Song Y, Xiang H, Peng X, Qin J, Tan G
Int J Clin Exp Pathol 2015;8(10):12346-56. Epub 2015 Oct 1 PMID: 26722421Free PMC Article
A molecular model for the development of germ cell cancer.
Looijenga LH, de Munnik H, Oosterhuis JW
Int J Cancer 1999 Dec 10;83(6):809-14. doi: 10.1002/(sici)1097-0215(19991210)83:6<809::aid-ijc20>3.0.co;2-0. PMID: 10597200
Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C
Am J Med Genet 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S. PMID: 8725781

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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