Somatic variation in mitochondrial DNA (mtDNA) has been described in primary breast tumors, including single-nucleotide variants and variation in the number of mtDNA molecules per cell (mtDNA content). However, there is currently a gap in the knowledge on the link between mitochondrial variation in breast cancer cells and their phenotypic behavior (i.e., tumorigenesis) or outcome. This review focuses on recent findings on mtDNA content and mtDNA somatic mutations in breast cancer and the potential biological impact and clinical relevance.
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