Circulating Cell Free DNA and DNA Integrity Index as Discriminating Tools between Breast Cancer and Benign Breast Disease.

Rania Elhelaly,Mohamed Abd Hegazy,Omar Hamdy,Ekbal Abo Hashem,Khaled Abdelwahab,Narmen Effat,Rasha Elzehery

doi:10.31557/apjcp.2022.23.2.545

Rania Elhelaly, Mohamed Abd Hegazy + Show 5 more

Open Access

https://doi.org/10.31557/apjcp.2022.23.2.545

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Abstract

Objectives:Early diagnosis of cancer remains a great challenge in the field of laboratory medicine. We investigated the ability of ccf DNA and DNA integrity index (DNA II) in differentiating benign from malignant breast diseases. Methods: Serum samples were collected from 50 patients with benign breast disease (BBD) and 50 newly diagnosed breast cancer (BC) patients, in addition to 50 control women. VEGF was measured by ELISA, while Real-time q-PCR was used to measure ccf DNA concentrations and to assess the concentrations of ALU repeats, both short fragments (115 bp) and long fragments (247 bp), then DNA II was calculated (all were done before and after radical mastectomy). Results:BC group showed significantly higher ccf DNA concentrations and DNA II compared to BBD and control groups, meanwhile, no statistically significant differences were found between BBD and control groups. Ccf DNA concentrations decreased significantly after surgery (P <0.001). Good AUC was found for ccf DNA (AUC=0.860), fair AUC was found for DNA II (AUC=0.727), while VEGF AUC failed to discriminate between BBD and BC cases. Conclusion:ccf DNA and DNA II could be used as excellent molecular biomarkers for early diagnosis of BC and for monitoring the efficiency of therapy in such patients. Utilizing these molecular markers would improve both the healthcare and economic burden of malignancy.

Highlights

We investigated the ability of circulating cellfree tumor DNA (ccf DNA) and DNA integrity index (DNA II) in differentiating benign from malignant breast diseases
breast cancer (BC) group showed significantly higher ccf DNA concentrations and DNA II compared to benign breast disease (BBD) and control groups, no statistically significant differences were found between BBD and control groups
Good AUC was found for ccf DNA (AUC=0.860), fair AUC was found for DNA II (AUC=0.727), while vascular endothelial growth factor (VEGF) AUC failed to discriminate between BBD and BC cases

Summary

Introduction

Cancer is considered the second leading cause of death worldwide (Arko-Boham et al, 2019). It may fail to identify patients due to the overlapping dense fibroglandular tissue which reduces the visibility of tumor tissue (Gilbert et al, 2016) These methods have drawbacks such as radiation exposure (Tabár et al, 2011). Conventional sampling methods such as needle biopsies are subjected to procedural complications and difficulty in obtaining sufficient material of good quality for genomic profiling (reported failure rates range from 30% of cases) (VanderLaan et al, 2014). Because of these limitations, it is necessary to develop a new non-invasive diagnostic method for early detection of BC patients

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