• DNA methylation as a diagnostic biomarker in breast cancer
  • Sajad rahmati,1,* mahshid hajivand,2
    1. Department of Biology, Faculty of Basic Sciences, Nourdanesh Institute of Higher Education, Meymeh, Isfahan, Iran
    2. Department of Biology, Faculty of Basic Sciences, Nourdanesh Institute of Higher Education, Meymeh, Isfahan, Iran


  • Introduction: One of the most common non-communicable diseases in the world is breast cancer, which is more common among women than men. This type of carcinoma is the most common type of cancer after lung cancer and according to reports it is the leading cause of cancer death among women worldwide. Its history goes back to 5000 years ago, which was seen in ancient egyptian mummies. The treatment started from the beginning of the diagnosis by burning the desired area. But later, treatment methods improved dramatically. In tumorigenesis-related diseases, early and accurate diagnosis is very important. Identifying epigenetic biomarkers is very helpful in managing various types of cancer, especially breast cancer. The DNA methylation process is a universal epigenetic mechanism which is the addition of methyl moiety to the pyrimidine ring in the cytosine base. DNA methyltransferase (DNMT) enzymes catalyze this enzymatic reaction. Changing the methylation profile directly affects the expression level of genes. Many environmental parameters such as increasing age, lack of physical activity, stress, depression, excessive alcohol consumption air pollution, and other biological processes affect the DNA methylation profile. The purpose of this study is to investigate DNA methylation as a biomarker in breast cancer diagnosis.
  • Methods: A comprehensive search was conducted in pubmed, Scopus, and other databases to discover published articles related to DNA methylation as a diagnostic biomarker in breast cancer with search terms included, DNA methylation, breast cancer, DNA methyltransferase, and related keywords.
  • Results: DNA methylation is one of the epigenetic mechanisms. Numerous studies have reported that alteration in methylation of DNA led to changes in the expression of oncogenes and tumor suppressor genes in patients with various cancers. Studies performed on tissues and whole blood of breast cancer patients have detected several hypo and hyper-methylated genes in both males and females. Therefore gene‑specific DNA methylation is a risk biomarker. Various studies have evaluated the methylation levels of tumor suppressor genes associated with BC development. BRCA2, ALX4, FEV, HOXA11, LYL1, NEUROG1, PAX, MGMT, SOX10, SREBF1, TP73, TRIM29, WT1, BCL9, SMYD3, ZNF154, ZNF177, HOXD9, ITIH5, TMEM132C, TDRD10, RNF220, RIMBP2, PRAC2, EFCAB1, and ANKRD53 are among the genes that are affected by hypermethylation in BC.
  • Conclusion: Alteration in the methylation of DNA causes changes that lead to breast cancer. Therefore study of DNA methylation is a useful method for the detection of diagnostic biomarkers.
  • Keywords: clinical biomarkers, DNA methylation, breast cancer, DNA methyltransferase, diagnosis