Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-5967
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dc.contributor.authorGaletzka, Danuta-
dc.contributor.authorMüller, Tobias-
dc.contributor.authorDittrich, Marcus-
dc.contributor.authorEndres, Miriam-
dc.contributor.authorKartal, Nergiz-
dc.contributor.authorSinizyn, Olesja-
dc.contributor.authorRapp, Steffen-
dc.contributor.authorZeller, Tanja-
dc.contributor.authorMüller, Christian-
dc.contributor.authorHankeln, Thomas-
dc.contributor.authorScholz-Kreisel, Peter-
dc.contributor.authorChorzempa, Heather-
dc.contributor.authorMirsch, Johanna-
dc.contributor.authorPoplawski, Alicia-
dc.contributor.authorRossmann, Heidi-
dc.contributor.authorSpix, Claudia-
dc.contributor.authorHaaf, Thomas-
dc.contributor.authorPrawitt, Dirk-
dc.contributor.authorMarron, Manuela-
dc.contributor.authorSchmidberger, Heinz-
dc.date.accessioned2021-06-04T07:28:47Z-
dc.date.available2021-06-04T07:28:47Z-
dc.date.issued2020-
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/5976-
dc.description.abstractThe 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.en_GB
dc.language.isoengde
dc.rightsCC BY*
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.ddc610 Medizinde_DE
dc.subject.ddc610 Medical sciencesen_GB
dc.titleMolecular karyotyping and gene expression analysis in childhood cancer patientsen_GB
dc.typeZeitschriftenaufsatzde
dc.identifier.doihttp://doi.org/10.25358/openscience-5967-
jgu.type.dinitypearticleen_GB
jgu.type.versionPublished versionde
jgu.type.resourceTextde
jgu.organisation.departmentFB 04 Medizinde
jgu.organisation.departmentFB 10 Biologiede
jgu.organisation.number2700-
jgu.organisation.number7970-
jgu.organisation.nameJohannes Gutenberg-Universität Mainz-
jgu.rights.accessrightsopenAccess-
jgu.journal.titleJournal of molecular medicinede
jgu.journal.volume98de
jgu.pages.start1107de
jgu.pages.end1123de
jgu.publisher.year2020-
jgu.publisher.nameSpringerde
jgu.publisher.placeBerlin u.a.de
jgu.publisher.urihttps://doi.org/10.1007/s00109-020-01937-4de
jgu.publisher.issn1432-1440de
jgu.organisation.placeMainz-
jgu.subject.ddccode610de
jgu.publisher.doi10.1007/s00109-020-01937-4
jgu.organisation.rorhttps://ror.org/023b0x485
Appears in collections:JGU-Publikationen

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