Breast Cancer, Genetic Factors and Methods of Diagnosis

Background and Aims: Breast cancer is the most common cancer in women. Screening, early detection, and prediction of the susceptibility are very important in drug response and choosing the appropriate treatment. Due to the limitations of conventional screening methods, such as low sensitivity and specificity, pain and anxiety, and radiation hazards of imaging techniques, use of biomarkers that can overcome these limitations would be important. Tumor markers (Protein and nucleic acid) are the most important molecular markers involved in cancer progression. About half of all hereditary breast cancers are caused by germline mutation in tumor suppressor genes and genes involved in mismatch repair, cell cycle control, steroid hormone metabolism, and cell signaling. Therefore, quantitative study of these genes can be used as a possible indicator in early detection of breast cancer. In this study, we introduce the genes involved in inherited breast cancer and the role of the main molecular techniques of its diagnosis in comparison with traditional methods. Conclusion: Various techniques such as IHC, FISH, CGH, Micro array, etc. and Molecular techniques such as RT-PCR, MLPA, QPCR, and NGS are used to measure tumor markers. Today, these techniques promise to improve diagnosis and help to select an appropriate treatment for