DR-263 Whole-genome mutational patterns

Mutations are generated by endogenous (replication errors) and exogenous processes (UV light). Studying the mutational patterns observed across both genes and the entire genome of metastatic patients, we plan to elucidate the interplay of  endogenous and external factors that ultimately shape the mutational processes. Based on the knowledge acquired on mutational processes we will improve the methods to detect signals of positive selection in both coding and non-coding elements, in order to accurately identify those involved in tumorigenesis and study their implications in tumor emergence and evolution.

Nuria Lopez-Bigas, Fundació Institut de Recerca Biomèdica (IRB Barcelona), Spain