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Authors: Galetzka, Danuta
Müller, Tobias
Dittrich, Marcus
Endres, Miriam
Kartal, Nergiz
Sinizyn, Olesja
Rapp, Steffen
Zeller, Tanja
Müller, Christian
Hankeln, Thomas
Scholz-Kreisel, Peter
Chorzempa, Heather
Mirsch, Johanna
Poplawski, Alicia
Rossmann, Heidi
Spix, Claudia
Haaf, Thomas
Prawitt, Dirk
Marron, Manuela
Schmidberger, Heinz
Title: Molecular karyotyping and gene expression analysis in childhood cancer patients
Online publication date: 4-Jun-2021
Language: english
Abstract: 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.
DDC: 610 Medizin
610 Medical sciences
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 04 Medizin
FB 10 Biologie
Place: Mainz
Version: Published version
Publication type: Zeitschriftenaufsatz
License: CC BY
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Journal: Journal of molecular medicine
Pages or article number: 1107
Publisher: Springer
Publisher place: Berlin u.a.
Issue date: 2020
ISSN: 1432-1440
Publisher URL:
Publisher DOI: 10.1007/s00109-020-01937-4
Appears in collections:JGU-Publikationen

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