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Clin Med Oncol. 2008;2:199-207. Epub 2008 Apr 1.

Review: mitochondrial defects in breast cancer.

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  • 1Clinical Genetics Unit, University Clinic of Navarra (CUN), Avda, Pio XII, 36, 31008 Pamplona, Navarra, Spain.


Mitochondria play important roles in cellular energy metabolism, free radical generation, and apoptosis. Mitochondrial DNA has been proposed to be involved in carcinogenesis because of its high susceptibility to mutations and limited repair mechanisms in comparison to nuclear DNA. Breast cancer is the most frequent cancer type among women in the world and, although exhaustive research has been done on nuclear DNA changes, several studies describe a variety of mitochondrial DNA alterations present in breast cancer. In this review article, we to provide a summary of the mitochondrial genomic alterations reported in breast cancer and their functional consequences.


breast cancer; heteroplasmy; mitochondrial DNA; mutations

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