Somatic mutations in cancer and clonal hemotopoiesis.

Conférence du Dr Nuria Lopez Bigas, IRB, Barcelone

Somatic mutations are the driving force of cancer genome evolution. Given the evolutionary principles of cancer, one effective way to identify genes 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 generate a compendium of cancer genes across tumor types ( Most mutations identified in tumors in cancer genes are mutations of unknown significance. The mutations observed in thousands of tumors, –natural experiments testing their oncogenic potential replicated across individuals and tissues– may be exploited to identify driver mutations in cancer genes. From these mutations, we extract features that describe the mechanism of tumorigenesis of each cancer gene and tissue and use those to build machine learning models that effectively identify driver mutations. With those models we perform in silico saturation mutagenesis to outline blueprints of potential driver mutations in cancer genes. These blueprints support the interpretation of newly sequenced patients’ tumors and the study of the mechanisms of tumorigenesis of cancer genes across tissues.

Finally, by analyzing more than 3500 whole-genomes of treated metastatic patients we uncovered the mutational footprints (or mutational signatures) of commonly used cancer treatments. These signatures allowed us to measure the mutational toxicity of these treatments across patients and organs.


16 avril 2021


Conférence 36 minutes et 07 secondes
Vidéoconférence Teams


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Nuria Lopez Bigas

Nuria Lopez Bigas

IRB, Barcelone