Project description:Genome-wide copy number analysis using SNP-arrays (OncoScans) in multinodular goitres from individuals with the c.1552G>A;p.E518K mutation in DGCR8 show allelic imbalance at Chr22 in all samples. Likewise this event is confirmed in papillary thyroid tumors harboring the same alteration somatically. The only alteration common in all MNG and FvPTC samples was the allelic imbalance at the Chr22 in line with all samples showing an homozygous genotype at the DGCR8 locus
Project description:The ataxia telangiectasia-mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear molecular features of breast tumors occuring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumors signature may help patients' management. To characterize hallmarks of ATM-associated tumors, absolute copy number variation and loss of heterozygosity profiles were obtained from the OncoScan SNP array.
Project description:Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive malignancy assumed to originate from plasmacytoid dendritic cells (pDCs), which affects the skin and bone marrow and sequentially other organ systems. Here, we used Affymetrix OncoScan CNV arrays to characterize somatic copy number variations in 45 BPDCN cases.