DR-314 The whole genome mutational landscape of APOBEC-driven urothelial carcinomas

Urothelial carcinoma (UC) is characterized by high mutational burden with a large proportion of genomic alterations associated with APOBEC mutagenesis. APOBEC enzymes recognize specific sequences and structures in the DNA creating hotspot mutations. These genomic alterations can result in driver events, but current tools to identify driver mutations are not suitable for hotspot mutations. In this study, WGS and RNA-seq data will be used to describe the APOBEC mutational landscape and identify drivers of UC. The results of this study will expand the current knowledge on the consequences of APOBEC mutagenesis in UC development and identify possible targets for therapy.

Joost Boormans, Erasmus MC, The Netherlands