Universitat Pompeu Fabra
Tumour genomes shed light into mutational processes and cancer vulnerabilities
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. We have recently demonstrated that DNA-bound proteins, such as transcription factors and histones, interfere with the NER machinery, which results in an increased rate of DNA mutations at the protein binding sites. This finding has 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 have identified 459 cancer genes with driver mutations by analyzing close to 7000 tumor exomes from 28 different cancer types, and we have search for their targeted therapeutic opportunities. Currently we are analyzing hundreds of tumor whole-genomes to identify non-coding elements, including promoters, enhances, 5′ and 3′ untranslated regions, microRNAs and lncRNAs, with cancer driver mutations.
Nuria Lopez-Bigas is an ICREA Research Professor at the Universitat Pompeu Fabra and head of the Biomedical Genomics group of the joint Research Programme on Biomedical Informatics, GRIB (IMIMUPF) at Barcelona (Spain).
She has a PhD in Biology from the University of Barcelona and has expertise in Medical Genetics and in Computational Biology and Bioinformatics. During her PhD work, she studied the molecular causes of hereditary deafness at the group of Xavier Estivill. Next she moved to the European Bioinformatics Institute in Hinxton (Cambridge, UK) to work on Computational Genomics at the group of Christos A. Ouzounis and then at the Center for Regulatory Genomics (Barcelona) at the group of Roderic Guigó. Nuria joined the University Pompeu Fabra in April 2006 and was appointed ICREA Research Professor in October 2011.
Her research is focused on the study of cancer from a genomics perspective. Her group is interested in the development of computational approaches to analyse cancer genomes to identify genes and pathways driving tumorigenesis. Nuria is also interested in the study of the involvement of specific pathways in cancer, in particular pRB/JARID1 pathway, Hippo and E2F pathways.