Despite such a pervasive impact, the analysis of genetic variants in gene promoters is not yet used but readily applied to the diagnosis and treatment of cancer. The key limitation is the lack of extensive knowledge about promoter variants.
The functions of genes are intensively studied from both basic science and applied translational perspectives. It is amazing that gene promoter variants that control the expression of genes are not used in the clinical management of patients with cancer. Consider that there are over 70,000 scientific papers investigating promoters of cancer genes, dysregulation of tumor suppressor and protooncogene expression are established cancer mechanisms, and dozens of transcription factors controlling gene expressions such as p53 and c-Myc are major cancer drivers.