biostudies-literatureDanuta GBMBF German ministry for education and science1107-1123https://www.ebi.ac.uk/biostudies/studies/S-EPMC7769790biostudies-literatureUnknown98(8)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 NTAN1Journal of molecular medicine (Berlin, Germany)Molecular karyotyping and gene expression analysis in childhood cancer patients.PMC776979002NUK016A and 02NUK042A and 02NUK042BMiriam ETanja ZPeter SKHeather CTobias MOlesja SDirk PJohanna MMarcus DThomas HClaudia SDanuta GManuela MAlicia PHeidi RSteffen RNergiz KHeinz SChristian MfalseMolecular karyotyping and gene expression analysis in childhood cancer patients.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 NTAN12020-01-01T00:00:00Z2020 Aug2025-06-01T01:16:07.01Z2021-02-20T17:15:08ZS-EPMC77697903257779510.1007/s00109-020-01937-4