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Staff Writer: Andre McGowan

Cell-free DNA is reported to be an authentic diagnostic biomarker in breast cancer patients. A recent study supports this, noting significantly increased levels of cell-free DNA in a group of breast cancer patients.

Increased levels of cell-free deoxyribose nucleic acid (cfDNA) in cancer cells are associated with a reduction in the activity of DNase. Increased cfDNA levels are implicated in the diagnosis of breast cancer; however, they are also associated with benign breast conditions. Hence, the specificity of cfDNA for breast cancer diagnosis is decreased. 

This study investigated the diagnostic efficacy of cfDNA in Pakistani breast cancer patients by evaluating the association between breast cancer and the levels of cfDNA. The findings are published in the journal Scientific Reports.

Participant Characteristics

The study enrolled a total of 84 breast cancer patients and 152 healthy controls. Immunohistochemistry (IHC) markers and Tru-Cut biopsy confirmed the diagnosis of breast cancer. The levels of serum cfDNA were significantly higher in breast cancer patients compared to healthy controls. Additionally, in breast cancer patients, significant associations were noted with cancer biomarkers including estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), triple-positive breast cancer (TPBC), and triple-negative breast cancer (TNBC).

Association of Cell-Free DNA With Breast Cancer and Biomarkers

The statistically significant association between cfDNA and breast cancer indicates the utility of cfDNA in the diagnosis and prognosis of breast cancer. However, the levels of cfDNA were not significantly associated with cancer biomarkers, as indicated by the results of the univariate logistic regression analysis. Based on Spearman’s correlation analysis, the quantitative levels of cfDNA were significantly correlated with cancer biomarkers, including ER, TPBC, TNBC, and PR. Hence, cfDNA can be utilized in the diagnosis and prognosis of breast cancer. A concentration of cfDNA greater than 551.4 ng/µL can distinguish between healthy controls and breast cancer patients.

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Association of Cell-Free DNA with Clinical Parameters of Breast Cancer

Levels of cfDNA were negatively correlated with the hematological parameters. However, cfDNA levels were positively correlated with renal and liver function test parameters, except for bilirubin levels.  


Khurram, I., Khan, M. U., Ibrahim, S., Saleem, A., Khan, Z., Mubeen, M., Khawar, A., & Ali, Q. (2023). Efficacy of cell-free DNA as a diagnostic biomarker in breast cancer patients. Scientific Reports, 13(1), 15347. https://doi.org/10.1038/s41598-023-42726-6