Mutational epidemiology: achievements and expectations on enhancing our understanding of the causes of cancer

Abstract

Mutational epidemiology integrates genomic techniques with large-scale population studies to uncover new causes of cancer. This approach goes beyond traditional epidemiology by analyzing the patterns of somatic mutations in cancer cells to identify specific mutational signatures that serve as a historical record of an individual's past mutagenic exposures. The field is also expanding to study mutational landscapes in normal tissues and precancerous lesions to understand the earliest stages of carcinogenesis. Initial studies are exploring how factors like certain mutagenic bacteria and air pollution can act as mutagens or promoters, influencing the selection and expansion of preexisting mutated clones. Ultimately, the goal is to use this evidence to uncover new and potentially preventive causes of cancer, understand differences and over time changes in incidence of certain cancers and develop tailored prevention strategies and public health policies.