Background and Objective: According to the Saudi cancer registry reports, breast cancer is the first cause of cancer-related death in women and the eleventh cancer incidence in male of Saudi Arabia. Phosphatase and tensin homolog and tumor protein 53 PTEN and TP53 mutations in codons are relatively common in increasing prevalence of the most types of cancer incidence as tumor suppresser genes. The primary objective of this study was to investigate the mutations in PTEN and TP53 in both male and female patients with breast cancer in Saudi Arabia and the role of these mutations on the protein expression of PTEN and TP53 antibodies using immunohistochemical method. Materials and Methods: The present study encompasses 342 Saudi breast cancer patients that were carrier of either PTEN or TP53 gene mutations. The analysis was conducted using sanger sequence and immunohistochemical staining for protein expression. Results: The frequency of PTEN mutation in male and female was 22.0 and 78.0%, respectively. Similarly, the frequency of TP53 mutation among male and female was 19.2 and 80.8%, respectively. Seven distinct mutations were identified in PTEN and TP53 gene. The PTEN and TP53 mutations involving transitions, transversions and additions or deletions were identified in the present investigation. Inactivation of PTEN and overexpression of p53 by mutation has been detected in number of breast cancer samples as screened through immunohistochemical staining. Breast cancer samples were tested with anti-PTEN monoclonal antibody 6H2.1 and anti-p53 monoclonal antibody DO 7 for estimation of immunohistochemical expression. Conclusion: Overall 26.8% of the analyzed breast cancer tumors displayed loss of PTEN expression. The TP53 over expression was observed in 65.7% of the tumors.
Rania Saad Suliman, Asma S. Algebaly and Wedad Saeed Alqahtani, 2020. Role of Human PTEN and TP53 Sequence Mutations in the Etiology of Breast Cancer in Saudi Patients. Pakistan Journal of Biological Sciences, 23: 321-330.