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Sooner breast cancer diagnosis results in improved treatment chances and improvements in the breast cancer sciences. There are several methods for breast cancer diagnosis, such as screening tests, laboratory tests, and biopsy. Since the previous methods are less sensitive, aberrant gene promoter methylation is selected for successful detection of tumors in liquid biopsies. The aim of this work was to detect the methylation pattern of PTEN and SMAD genes in circulating DNA from breast cancer patients as compared to patients with benign breast diseases and healthy individuals. A total of 130 women (mean age 52-years-old) admitted to Surgical Oncology Department Outpatient Surgical Clinic of Mansoura Oncology Centre were enrolled in the present study.
It was found that, PTEN showed an increased methylation degree in breast cancer group as compared to female individuals with benign breast lesions and healthy controls with significant value (P < 0.0001). Also, it was noticed that, SMAD4 reported an increased methylation degree in breast cancer patients as compared to female groups with benign breast lesions and healthy controls with significant value (P < 0.0001). In conclusion, detection of these methylated genes using the PCR technique was at the forefront of routine tumor markers CEA and CA15.3 for early breast cancer diagnosis, particularly in high-risk groups such as those with early clinical stages and low-grade tumors.