Synopsis
Head and neck squamous cell carcinoma (HNSCC) results from the accumulation of genetic and epigenetic changes in a variety of cellular pathways. The study of tumor development and progression is complicated by the biological complexity of this disease. Recent technological advances now permit the study of the entire cancer genome, which can elucidate complex pathway interactions that are not apparent at the level of single genes. In this review, we describe innovations that have allowed for whole-exome/genome analysis of genetic and epigenetic alterations, as well as of changes in gene expression. Studies using next-generation sequencing, array comparative genomic hybridization, methylation arrays, and gene expression profiling are reviewed, with a particular focus on findings from recent whole-exome sequencing projects. A discussion of the implications of these data on treatment and future goals for the field of cancer genomics is included.