Detection of Genomic Copy Number Variations in Ovarian Cancer in the Peripheral Blood System

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Simple Summary Our research aims to test the suitability of ddPCR for the detection of tumor-related genomic imbalances (CNVs) in ovarian cancer (OC) in the peripheral blood system. In principle, in an artificial CNV simulation, we can show that CNVs can be detected even in larger dilutions in diploid DNA using ddPCR. Furthermore, we identified ovarian cancer CNVs by using aCGH and used this information to produce suitable ddPCR tests. These ddPCR tests are based on the principle of two differently colored comparative DNA loci that mark both very common genome imbalances in OC and regions that hardly indicate genome imbalances in OC. We were able to generate six ddPCR tests that indicate OC by identifying cell-free tumor DNA with a sensitivity of 0.8 and a specificity of 0.8.