DR-248 Essential regulatory elements on high-level amplicons

Only 2% of the human genome contains protein-coding genes. Their expression depends on the regulatory elements in the surrounding “non-coding” genome. High-level amplifications frequently are extrachromosomal amplicons (ecDNA) and their presence in a cancer is associated with worse outcomes for the patient. They include oncogenes that promote cancer growth and regulatory elements, all stitched together into a small circle. The HMF whole genome sequencing data will allow us to reveal exactly which loci are included in ecDNA. In this project, we propose to investigate which specific regulatory elements are required by ecDNAs to drive aggressive tumor growth.

Anton Henssen, Charité – Universitätsmedizin Berlin, Germany