Plasma cell-free DNA integrity as a molecular diagnostic tool for breast cancer: non-invasive genomic studies among Egyptian women

Document Type : Original Article

Authors

1 Clinical and chemical pathology department, Faculty of medicine, Cairo university, Cairo, Egypt

2 General surgery department, Faculty of medicine, Cairo university, Cairo, Egypt

Abstract

Liquid biopsy could be an alternative to the traditional tumor biopsies being less invasive and easy to obtain. This research aimed to verify if cfDNA integrity and concentration in plasma could be clinically useful as putative biomarkers in early breast cancer diagnosis using SYBR green based qPCR being simple and of low cost compared to Taqman technique.

This study was conducted on 80 breast cancer patients (40 early and 40 late breast cancer cases) to investigate the utility of cfDNA in cancer staging, 40 cases with benign breast lesions and 40 healthy donors. Plasma CfDNA integrity was determined by measuring ALU115 and ALU247 using real-time qPCR and ROC curve was performed to determine the best cut-off value for breast cancer detection.

Our finding showed that, cfDNA integrity in breast cancer was significantly higher than in both benign and healthy groups. Integrity index was correlated to the Tumor, Node, and Metastasis (TNM) stage.

This study suggested that the plasma DNA integrity could be a promising molecular diagnostic biomarker of breast cancer. The findings of this study are a step towards validating a non-invasive assay for the early diagnosis of breast cancer.

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