摘要：

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.Keywords mitochondrial DNA, breast cancer, mutations, heteroplasmyReferencesSection: Achanta, G., Sasaki, R., Feng, L. 2005. Novel role of p53 in maintaining mitochondrial genetic stability through interaction with DNA Pol gamma. Embo. J., 24: 3482–3492. Google Scholar Anderson, S., Bankier, A.T., Barrell, B.G. 1981. Sequence and organization of the human mitochondrial genome. Nature, 290: 457–465. Google Scholar Andrews, R.M., Kubacka, I., Chinnery, P.F. 1999. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet., 23: 147. Google Scholar Bai, R.K., Leal, S.M., Covarrubias, D. 2007. Mitochondrial genetic background modifies breast cancer risk. Cancer Res., 67: 4687–4694. Google Scholar Bianchi, M.S., Bianchi, N.O., and Bailliet, G. 1995. Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients. Cytogenet. Cell. Genet., 71: 99–103. Google Scholar Bianchi, N.O., Bianchi, M.S., and Richard, S.M. 2001. Mitochondrial genome instability in human cancers. Mutat. Res., 488: 9–23. Google Scholar Brandon, M., Baldi, P., and Wallace, D.C. 2006. Mitochondrial mutations in cancer. Oncogene, 25: 4647–4662. Google Scholar Brandon, M.C., Lott, M.T., Nguyen, K.C. 2005. MITOMAP: a human mitochondrial genome database–2004 update. Nucleic Acids Res., 33: D611–613. Google Scholar Canter, J.A., Kallianpur, A.R., Parl, F.F. 2005. Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res., 65: 8028–8033. Google Scholar Cavelier, L., Jazin, E., Jalonen, P. 2000. mtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions. Hum. Genet., 107: 45–50. Google Scholar Clayton, D.A. 1992. Structure and function of the mitochondrial genome. J. Inherit Metab. Dis., 15: 439–447. Google Scholar Clayton, D.A. 2000. Transcription and replication of mitochondrial DNA. Hum. Reprod., 15(2): 11–17. Google Scholar Coller, H.A., Khrapko, K., Bodyak, N.D. 2001. High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection. Nat. Genet., 28: 147–150. Google Scholar Chan, D.C. 2006. Mitochondria: dynamic organelles in disease, aging, and development. Cell., 125: 1241–1252. Google Scholar Chatterjee, A., Mambo, E., and Sidransky, D. 2006. Mitochondrial DNA mutations in human cancer. Oncogene, 25: 4663–4674. Google Scholar Chen, X.J., and Butow, R.A. 2005. The organization and inheritance of the mitochondrial genome. Nat. Rev. Genet., 6: 815–825. Google Scholar Dani, M.A., Dani, S.U., Lima, S.P. 2004. Less DeltamtDNA4977 than normal in various types of tumors suggests that cancer cells are essentially free of this mutation. Genet. Mol. Res., 3: 395–409. Google Scholar Delsite, R., Kachhap, S., Anbazhagan, R. 2002. Nuclear genes involved in mitochondria-to-nucleus communication in breast cancer cells. Mol. Cancer, 1: 6. Google Scholar EBCTCG, E. B. C. T.C. G. 2005. Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials. Lancet, 365: 1687–1717. Google Scholar Fliss, M.S., Usadel, H., Caballero, O.L. 2000. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science, 287: 2017–2019. Google Scholar Hall, I

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