title: Current understanding of mitochondrial DNA in breast cancer.
abstract: The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis and aging. Mitochondrial DNA (mtDNA) has been proposed to be involved in carcinogenesis because of its high susceptibility to mutations and limited repair mechanisms in comparison to nuclear DNA. As mtDNA lacks introns, it has been suggested that most mutations will occur in coding sequences. The subsequent accumulation of mutations may lead to tumor formation. By virtue of their clonal nature, high copy number and high frequent mutations may provide a powerful molecular biomarker for the detection of cancer. It has been suggested that the extent of mtDNA mutations might be useful in the prognosis of cancer outcome and/or the response to certain therapies. In this review article, we aim to provide a brief summary of our current understanding of mitochondrial genetics and biology, review the mtDNA alterations reported in breast cancer, and offer some perspectives as to the emergence of mtDNA mutations, including their functional consequences in cancer development, diagnostic criteria, and therapeutic implications.
authors.affiliation: Laboratory for Prenatal Medicine and Gynecology Oncology, Women's Hospital/Department of Biomedicine, University of Basel, Basel CH 4031, Switzerland.
authors.forename: Ramin
authors.initials: R
authors.lastname: Radpour
authors.forename: Alex XiuCheng
authors.initials: AX
authors.lastname: Fan
authors.forename: Corina
authors.initials: C
authors.lastname: Kohler
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holzgreve
authors.forename: Xiao Yan
authors.initials: XY
authors.lastname: Zhong
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D003110:Colonic Neoplasms / Q000235:genetics; D045303:Cytochromes b / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics; D009154:Mutation; D010086:Oxidative Phosphorylation Coupling Factors / Q000235:genetics; D013274:Stomach Neoplasms / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm; D005819:Genetic Markers; D010086:Oxidative Phosphorylation Coupling Factors; D045303:Cytochromes b; D003576:Electron Transport Complex IV; C000628217:F(6) ATPase; D025261:Mitochondrial Proton-Translocating ATPases