Abstract
Cancers arise from the accumulation of somatic genome mutations, with varying contributions of intrinsic (i.e., genetic predisposition) and extrinsic (i.e., environmental) factors. For the understanding of malignant clones, precise information about their genomic composition has to be correlated with morphological, clinical, and individual features in the context of the available medical knowledge. Rapid improvements in molecular profiling techniques, the accumulation of a large amount of data in genomic alterations in human malignancies, and the expansion of bioinformatic tools and methodologies have facilitated the understanding of the molecular changes during oncogenesis, and their correlation with clinicopathological phenotypes. Far beyond a limited set of “driver” genes, oncogenomic profiling has identified a large variety of somatic mutations, and whole-genome sequencing studies of healthy individuals have improved the knowledge of heritable genome variation. Nevertheless, the main challenges arise from the skewed representation of individuals from varying population backgrounds in biomedical studies, and also through the limited extent in which some cancer entities are represented in the scientific literature. Content analyses of oncogenomic publications could provide guidance for the planning and support of future studies aiming at filling prominent knowledge gaps.
Carrio-Cordo, Paula