DR-039 Defining the spectrum of structural variation in 2,500 metastatic cancer genomes

Recent whole genome sequencing efforts have identified a broad spectrum of gains and losses of DNA in cancer genomes. This has led to the identification of novel mechanisms for genome rearrangement like chromothripsis, where chromosomes are shattered and stitched back together in a different order. However, little is known about the prevalence of these types of events throughout different tumor types and their relevance for patient outcome. Furthermore, the data provided by Hartwig Medical Foundation provides unprecedented detail and resolution, enabling us to detect small gains/losses of DNA that would have previously remained unnoticed.

Bauke Ylstra Amsterdam UMC the Netherlands