{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Danuta G"],"funding":["BMBF German ministry for education and science"],"pagination":["1107-1123"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7769790"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["98(8)"],"pubmed_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"],"journal":["Journal of molecular medicine (Berlin, Germany)"],"pubmed_title":["Molecular karyotyping and gene expression analysis in childhood cancer patients."],"pmcid":["PMC7769790"],"funding_grant_id":["02NUK016A and 02NUK042A and 02NUK042B"],"pubmed_authors":["Miriam E","Tanja Z","Peter SK","Heather C","Tobias M","Olesja S","Dirk P","Johanna M","Marcus D","Thomas H","Claudia S","Danuta G","Manuela M","Alicia P","Heidi R","Steffen R","Nergiz K","Heinz S","Christian M"],"additional_accession":[]},"is_claimable":false,"name":"Molecular karyotyping and gene expression analysis in childhood cancer patients.","description":"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","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Aug","modification":"2025-06-01T01:16:07.01Z","creation":"2021-02-20T17:15:08Z"},"accession":"S-EPMC7769790","cross_references":{"pubmed":["32577795"],"doi":["10.1007/s00109-020-01937-4"]}}