NCI Symposium on Mutation Signatures and Cancer

The recent wealth of genomic data has enabled the identification of mutation signatures in a wide range of normal and tumor cells. Progress in this area has been accelerated by computational methods and experimental approaches to link exogenous (e.g., chemical mutagen) and endogenous (e.g., DNA repair defect) factors to specific mutation patterns. The understanding and application of mutation signatures has increased our knowledge of cancer etiology, population exposures, mutagenic processes and treatment response.

To examine the current state of the science and future opportunities for cancer research focusing on mutation signatures, the NCI Symposium on Mutation Signatures and Cancer was virtually held on December 2-3, 2021. The meeting was chaired by Dr. Ludmil Alexandrov (University of California, San Diego) and Dr. Maria Teresa Landi (NCI DCEG) and examined several key areas in the field of mutation signatures: normal and cancer tissues, exogenous and endogenous processes, analytical approaches, and translational aspects.