Molecular karyotyping and gene expression analysis in childhood cancer patients

  1. Galetzka, Danuta ORCID logo
  2. Müller, Tobias
  3. Dittrich, Marcus
  4. Endres, Miriam
  5. Kartal, Nergiz
  6. Sinizyn, Olesja
  7. Rapp, Steffen
  8. Zeller, Tanja
  9. Müller, Christian
  10. Hankeln, Thomas
  11. Scholz-Kreisel, Peter
  12. Chorzempa, Heather
  13. Mirsch, Johanna
  14. Poplawski, Alicia
  15. Rossmann, Heidi
  16. Spix, Claudia
  17. Haaf, Thomas
  18. Prawitt, Dirk
  19. Marron, Manuela ORCID logo
  20. Schmidberger, Heinz

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Danuta-et-al_2020_Molecular karyotyping and gene expression analysis in childhood cancer patients.pdf 1,82MB
WeightNameValue
1000 Titel
  • Molecular karyotyping and gene expression analysis in childhood cancer patients
1000 Autor/in
  1. Galetzka, Danuta |
  2. Müller, Tobias |
  3. Dittrich, Marcus |
  4. Endres, Miriam |
  5. Kartal, Nergiz |
  6. Sinizyn, Olesja |
  7. Rapp, Steffen |
  8. Zeller, Tanja |
  9. Müller, Christian |
  10. Hankeln, Thomas |
  11. Scholz-Kreisel, Peter |
  12. Chorzempa, Heather |
  13. Mirsch, Johanna |
  14. Poplawski, Alicia |
  15. Rossmann, Heidi |
  16. Spix, Claudia |
  17. Haaf, Thomas |
  18. Prawitt, Dirk |
  19. Marron, Manuela |
  20. Schmidberger, Heinz |
1000 Erscheinungsjahr 2020
1000 LeibnizOpen
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-06-23
1000 Erschienen in
1000 Quellenangabe
  • 98:1107-1123
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00109-020-01937-4 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769790/ |
1000 Ergänzendes Material
  • https://link.springer.com/article/10.1007%2Fs00109-020-01937-4#Sec20 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • The genetic etiology of sporadic childhood cancer cases remains unclear. We recruited a cohort of 20 patients who survived a childhood malignancy and then developed a second primary cancer (2N), and 20 carefully matched patients who survived a childhood cancer without developing a second malignancy (1N). Twenty matched cancer-free (0N) and additional 1000 (0N) GHS participants served as controls. Aiming to identify new candidate loci for cancer predisposition, we compared the genome-wide DNA copy number variations (CNV) with the RNA-expression data obtained after in vitro irradiation of primary fibroblasts. In 2N patients, we detected a total of 142 genes affected by CNV. A total of 53 genes of these were not altered in controls. Six genes (POLR3F, SEC23B, ZNF133, C16orf45, RRN3, and NTAN1) that we found to be overexpressed after irradiation were also duplicated in the genome of the 2N patients. For the 1N collective, 185 genes were affected by CNV and 38 of these genes were not altered in controls. Five genes (ZCWPW2, SYNCRIP, DHX30, DHRS4L2, and THSD1) were located in duplicated genomic regions and exhibited altered RNA expression after irradiation. One gene (ABCC6) was partially duplicated in one 1N and one 2N patient. Analysis of methylation levels of THSD1 and GSTT2 genes which were detected in duplicated regions and are frequently aberrantly methylated in cancer showed no changes in patient’s fibroblasts. In summary, we describe rare and radiation-sensitive genes affected by CNV in childhood sporadic cancer cases, which may have an impact on cancer development.
1000 Sacherschließung
lokal Copy number variation
lokal Radiation
lokal Childhood cancer
lokal Gene expression
lokal Primary secondary cancer
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0003-1825-9136|https://frl.publisso.de/adhoc/uri/TcO8bGxlciwgVG9iaWFz|https://frl.publisso.de/adhoc/uri/RGl0dHJpY2gsIE1hcmN1cw==|https://frl.publisso.de/adhoc/uri/RW5kcmVzLCBNaXJpYW0=|https://frl.publisso.de/adhoc/uri/S2FydGFsLCBOZXJnaXo=|https://frl.publisso.de/adhoc/uri/U2luaXp5biwgT2xlc2ph|https://frl.publisso.de/adhoc/uri/UmFwcCwgU3RlZmZlbg==|https://frl.publisso.de/adhoc/uri/WmVsbGVyLCBUYW5qYQ==|https://frl.publisso.de/adhoc/uri/TcO8bGxlciwgQ2hyaXN0aWFu|https://frl.publisso.de/adhoc/uri/SGFua2VsbiwgVGhvbWFz|https://frl.publisso.de/adhoc/uri/U2Nob2x6LUtyZWlzZWwsIFBldGVy|https://frl.publisso.de/adhoc/uri/Q2hvcnplbXBhLCBIZWF0aGVy|https://frl.publisso.de/adhoc/uri/TWlyc2NoLCBKb2hhbm5h|https://frl.publisso.de/adhoc/uri/UG9wbGF3c2tpLCBBbGljaWE=|https://frl.publisso.de/adhoc/uri/Um9zc21hbm4sIEhlaWRp|https://frl.publisso.de/adhoc/uri/U3BpeCwgQ2xhdWRpYQ==|https://frl.publisso.de/adhoc/uri/SGFhZiwgVGhvbWFz|https://frl.publisso.de/adhoc/uri/UHJhd2l0dCwgRGlyaw==|https://orcid.org/0000-0001-9658-1855|https://frl.publisso.de/adhoc/uri/U2NobWlkYmVyZ2VyLCBIZWlueg==
1000 Hinweis
  • A Correction to this article was published on 26 September 2020: https://link.springer.com/article/10.1007/s00109-020-01986-9
1000 Label
1000 Förderer
  1. Bundesministerium für Bildung und Forschung |
  2. Projekt DEAL |
1000 Fördernummer
  1. 02NUK016A; 02NUK042A; 02NUK042B
  2. -
1000 Förderprogramm
  1. -
  2. Open Access funding
1000 Dateien
  1. Molecular karyotyping and gene expression analysis in childhood cancer patients
    Molecular karyotyping and gene expression analysis in childhood cancer patients
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer Bundesministerium für Bildung und Forschung |
    1000 Förderprogramm -
    1000 Fördernummer 02NUK016A; 02NUK042A; 02NUK042B
  2. 1000 joinedFunding-child
    1000 Förderer Projekt DEAL |
    1000 Förderprogramm Open Access funding
    1000 Fördernummer -
1000 Objektart article
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1000 @id frl:6426190.rdf
1000 Erstellt am 2021-03-15T16:18:06.461+0100
1000 Erstellt von 266
1000 beschreibt frl:6426190
1000 Bearbeitet von 25
1000 Zuletzt bearbeitet Fri Mar 19 15:01:27 CET 2021
1000 Objekt bearb. Fri Mar 19 15:01:04 CET 2021
1000 Vgl. frl:6426190
1000 Oai Id
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