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Decreased mitochondrial DNA content in blood samples of patients with stage I breast cancer

Peng Xia12, Han-Xiang An3*, Cheng-Xue Dang1*, Ramin Radpour2, Corina Kohler2, Emmanouil Fokas3, Rita Engenhart-Cabillic3, Wolfgang Holzgreve4 and Xiao Yan Zhong2

Author Affiliations

1 Department of Surgical Oncology, First Affiliated Hospital of Medical College, Xi'an Jiaotong University, 710061 Xi'an, PR China

2 Laboratory for Prenatal Medicine and Gynecological Oncology, Women's Hospital and Department of Biomedicine, University of Basel, Switzerland

3 Department of Radiotherapy and Radiation Oncology, Philipps-University Marburg, Baldingerstr. D-35043 Marburg, Germany

4 Medical Center, Abert-Ludwigs-University-Freiburg, Germany

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BMC Cancer 2009, 9:454  doi:10.1186/1471-2407-9-454

Published: 21 December 2009



Alterations of mitochondrial DNA (mtDNA) have been implicated in carcinogenesis. We developed an accurate multiplex quantitative real-time PCR for synchronized determination of mtDNA and nuclear DNA (nDNA). We sought to investigate whether mtDNA content in the peripheral blood of breast cancer patients is associated with clinical and pathological parameters.


Peripheral blood samples were collected from 60 patients with breast cancer and 51 age-matched healthy individuals as control. DNA was extracted from peripheral blood for the quantification of mtDNA and nDNA, using a one-step multiplex real-time PCR. A FAM labeled MGB probe and primers were used to amplify the mtDNA sequence of the ATP 8 gene, and a VIC labeled MGB probe and primers were employed to amplify the glyceraldehyde-3-phosphate-dehydrogenase gene. mtDNA content was correlated with tumor stage, menstruation status, and age of patients as well as lymph node status and the expression of estrogen receptor (ER), progesterone receptor (PR) and Her-2/neu protein.


The content of mtDNA in stage I breast cancer patients was significantly lower than in other stages (overall P = 0.023). Reduced mtDNA was found often in post menopausal cancer group (P = 0.024). No difference in mtDNA content, in regards to age (p = 0.564), lymph node involvement (p = 0.673), ER (p = 0.877), PR (p = 0.763), and Her-2/neu expression (p = 0.335), was observed.


Early detection of breast cancer has proved difficult and current detection methods are inadequate. In the present study, decreased mtDNA content in the peripheral blood of patients with breast cancer was strongly associated with stage I. The use of mtDNA may have diagnostic value and further studies are required to validate it as a potential biomarker for early detection of breast cancer.