DR-069 Variation in mutational processes across the human genome

Cancer is a disease of the genome. Random factors, environmental exposures and also certain biological mechanisms have the potential to cause mutations in DNA, while the sophisticated DNA repair mechanisms available to human cells prevent such changes in genes. We will use the whole-genome sequences from metastatic tumors to examine how the balance between DNA damage and DNA repair shapes the mutation patterns observed in cancer. This is relevant to patients because we will further investigate how such mutational patterns are associated with risk of cancer progression and with response to various drugs, with implications to prevention and treatment.

Fran Supek IRB Barcelona Spain