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DNA methylation is a fundamental biochemical modification that in conjunction with noncoding RNAs, histone modifications, and chromatin remodeling institutes the epigenetic machinery of mammalian cells. As a result of the second decade of intense epigenetic research and its role in human disease, substantial new mechanisms have been uncovered. However, it is well acknowledged that we have just scratched the tip of the iceberg. Epigenetic deregulation appears to be one of the foundations of major human diseases, including lung cancer, which is the most frequent cause of cancer-related deaths. Currently, significant effort is made to dissect the role of epigenetic deregulation in the development of lung cancer and utilize this knowledge in diagnostic and therapeutic applications. Taking advantage of the recent technologies in genomic research, many studies have been conducted to discover and validate abnormal DNA methylation patterns that may shed light on cancer development pathways and open new areas of potential clinical exploitation. In this article, we provide basic information of the DNA methylation involved in gene regulation and review the latest literature on potential relevant translational applications in lung cancer. Particular emphasis is given to the development and validation of DNA methylation biomarkers that may assist in the clinical management of lung cancer.

DNA methylation: its role in transcriptional regulation and association with lung cancer