Application of mitochondrial genome information in cancer epidemiology

Two genomes, nuclear and mitochondrial, exist in humans although information contained in the mitochondrial genome has not been fully utilized in cancer epidemiology. Over the last few years, a variety of approaches have been developed to improve results of conventional cancer screening by detecting molecular markers in different populations. Mitochondrial DNA alterations (mutations, deletions and instability) are emerging as new molecular markers for detecting a variety of cancers in tissue samples and biofluids which can be included in population screening studies. Since mitochondrial genome is small (16.6 kb) and high-throughput assays have been developed for sequencing whole mitochondrial genome, it can be adopted by most of the laboratories conducting epidemiological studies. Applications of mitochondrial DNA markers to identify high risk populations and future challenges are discussed in this article.