Plasma Circulating Cell-free Nuclear and Mitochondrial DNA as Potential Biomarkers in the Peripheral Blood of Breast Cancer Patients

  • Mahmoud, Enas H (Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University) ;
  • Fawzy, Amal (Clinical and Chemical Pathology Department, National Cancer Institute, Cairo University) ;
  • Ahmad, Omar K (Clinical and Chemical Pathology Department, National Cancer Institute, Cairo University) ;
  • Ali, Amr M (General Surgery Department, Faculty of Medicine, Beni Swif University)
  • Published : 2016.01.11


Background: In Egypt, breast cancer is estimated to be the most common cancer among females. It is also a leading cause of cancer-related mortality. Use of circulating cell-free DNA (ccf-DNA) as non-invasive biomarkers is a promising tool for diagnosis and follow-up of breast cancer (BC) patients. Objective: To assess the role of circulating cell free DNA (nuclear and mitochondrial) in diagnosing BC. Materials and Methods: Multiplex real time PCR was used to detect the level of ccf nuclear and mitochondrial DNA in the peripheral blood of 50 breast cancer patients together with 30 patients with benign lesions and 20 healthy controls. Laboratory investigations, histopathological staging and receptor studies were carried out for the cancer group. Receiver operating characteristic curves were used to evaluate the performance of ccf-nDNA and mtDNA. Results: The levels of both nDNA and mtDNA in the cancer group were significantly higher in comparison to the benign and the healthy control group. There was a statistically significant association between nDNA and mtDNA levels and well established prognostic parameters; namely, histological grade, tumour stage, lymph node status andhormonal receptor status. Conclusions: Our data suggests that nuclear and mitochondrial ccf-DNA may be used as non-invasive biomarkers in BC.


Breast cancer;ccf nuclear DNA;ccf mitochondrial DNA;diagnostic markers


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