Cancer Genomics

Next generation sequencing (NGS) describes the technical revolution that enabled massively parallel sequencing of fragmented nucleic acids, thus making possible our current genomic understanding of cancers. The technology is used to determine the order of nucleotides in entire genomes or various targeted areas and regions of RNA or DNA. The wide application of NGS, mainly through whole genome, exome and transcriptome sequencing, provides a high-resolution and global view of the cancer genome. Coupled with powerful bioinformatics tools and advanced computational data analysis approaches, NGS has revolutionized our understanding of the biological basis of cancer. The sequencing of cancer genomes has revealed a number of novel cancer-related genes, especially in breast cancer. The application of NGS to large-scale cancer genomics discovery projects allowing clinicians to act more easily on genomic information at the point of care for patients. Developments in NGS and emerging novel technologies continue to change the cancer research landscape to advance our knowledge with the hope that in the near future we can further improve our ability to prevent, diagnose and treat cancers. In parallel, new therapies that target mutated genes identified through clinical NGS are gaining US Food and Drug Administration (FDA) approval, and novel clinical trial designs are emerging in which genetic identifiers are given equal weight to histology. The coincident development of targeted small molecule and antibody-based therapies that target a cancer’s genomic dependencies has fuelled the transition of genomic assays into clinical use in patients with cancer.