DR-104 A comprehensive analysis of mutational processes and signatures in primary and metastatic cancer tumors

Systematic analysis of cancer genomes has revealed a number of characteristic mutational signatures. Some of these have been linked to endogenous processes induced by inherited or somatic pathogenic variants, or by exogenous challenges, like exposure to UV-light, chemotherapeutic drugs or other types of mutagenic agents. In this research, we will explore, characterize and validate mutational patterns, signatures and processes in primary and metastatic cancer patients. The results of this study will provide a better understanding of the processes that are operational at different stages of carcinogenesis. Such information may be used for design of preventive strategies (for tumorgenesis or metastatic seeding) but can also be used for stratifying patients towards targeted treatments based on such characterics (e.g. homologous recombination deficiency as we have already demonstrated by development of the CHORD algorithm, DR-018).

Edwin Cuppen University Medical Center Utrecht the Netherlands