Cancer and Mutation Detection in the Mitochondrial Genome

As revealed during the past few years, tumour formation is frequently associated with mtDNA mutations and mitochondrial dysfunction. mtDNA mutations have been identified in a variety of cancers, e.g. bladder, brain, breast, colon, gastric, head and neck, kidney, liver, lung and skin cancer and in hematologic malignancies, such as acute and chronic leukemias, myelodysplastic syndrome (MDS) and lymphoma. Mutations identified include point mutations, deletions and duplications.

Two articles in the Transgenomic Discovery Zone Oncology Issue show examples of mutation detection in the mitochondrial genome related to MDS and non-melanoma skin cancer using the WAVE^® System and the new MitoScreen Assay™ Kit combined with the WAVE System, respectively.