The role of circulating cell-free DNA and its integrity as a biomarker for diagnosis of breast cancer using ALU (247/115) bP sequences

Abstract

of breast cancer by using sensitive and specific biomarkers is necessary. Cell– free DNA (cf-DNA) is a candidate biomarker in various cancers. Contrasting, shorted uniformed DNA released from apoptotic non-diseased cells, DNA released from malignant cells varies in size. DNA integrity is a ratio between 247 and 115 bp. This study aimed to evaluate the diagnostic values of cf-DNA using ALU -247 and ALU- 115 and DNA integrity in peripheral blood of breast cancer patients as a noninvasive marker. Also, to determine correlations between ALU-247 and ALU-115, DNA integrity, cancer antigen (CA )15-3 and carcinoembryonic antigen (CEA) with each other in breast cancer patients and in different stages of breast cancer. This study included 100 females, divided into 3 groups. The first group consisted of 20 apparently healthy females as the control group. The second group included 20 patients with benign breast lesions. The third group included 60 patients with breast cancer. Serum levels of both ALU-247 and ALU-115 as well as cf-DNA integrity were statistically significant higher in breast cancer patients as compared to the control group (p=0.018, p<0.001 and p=0.009 respectively). Compared to the control group, ALU-247 had the best diagnostic sensitivity for diagnosis of breast cancer (86.78%) with 75% specificity with area under the curve of 0.848. We concluded that measuring ALU-247, ALU-115 and DNA integrity in peripheral blood would be a promising novel approach for diagnosis and early detection of breast cancer.