Nuria Lopez-Bigas

Coding and non-coding cancer mutations

Abstract. Somatic mutations are the driving force of cancer genome evolution. The rate of somatic mutations appears to be greatly variable across the genome due to variations in chromatin organization, DNA accessibility and replication timing. However, other variables that may influence the mutation rate locally are unknown. I will discuss recent findings from our lab on how DNA-binding proteins and differences in exons and introns influence mutation rate. These finding have important implications for our understanding of mutational and DNA repair processes and in the identification of cancer driver mutations. Given the evolutionary principles of cancer, one effective way to identify genomic elements involved in cancer is by tracing the signals left by the positive selection of driver mutations across tumours. We analyze thousands of tumor genomes to identify driver mutations in coding and non-coding regions of the genome.

Short Bio. Nuria Lopez­-Bigas is a biologist with a PhD in molecular genetics of deafness. She transitioned into bioinformatics during his postdoc at the European Bioinformatics Institute (EBI). Since 2006 she leads a research group in Barcelona focused on the study of cancer from a genomics perspective. She is particularly interested in the identification of cancer driver mutations, genes and pathways across tumor types and in the study of their targeted opportunities.
Her lab has actively participated in the major cancer genomics projects, including the International Cancer Genomics Consortia (ICGC) and The Cancer Genome Atlas (TCGA) and Núria has taken leading roles within these initiatives.

Among the most important achievements obtained by Lopez-Bigas’ lab are the development of pioneer methods to identify cancer driver genes (Oncodrive methods)(NAR 2012, Bioinformatics 2013, Genome Biology 2016), the creation of IntOGen (, a discovery tool for cancer research (Nature Methods 2013), the obtention of a landscape of driver events and their therapeutic opportunities across close to 7000 tumours of 28 different cancer types (Cancer Cell 2015), and the discovery that DNA-bound proteins interfere with the nucleotide excision repair machinery, leading to increased rate of DNA mutations at the protein binding sites (Nature 2016).