Detection of P53 Gene Mutations in Exons 5 and 8 in Patients of Familial Breast Cancer with PCR-SSCP Method

Breast cancer is one of the most common cancers of women in the world. Although different genetic alteration has been reported in this malignancy, but P53 gene mutations are more frequent. P53 gene is one of the most important tumour suppressor genes and play a central role in breast cancer, therefore detecting of mutations in this gene would be very helpful to understand the genetic mechanisms in initiation and progress of breast cancer. The aim at this study was to detect P53 gene mutations in exons 5 and 8. In this study 32 patients with familial breast cancer were selected and biopsy of breast was carried out DNA extraction were performed by phenol-chloroform method, and polymerase chain reaction (PCR) for amplification of exons 5 and 8 were carried out. In order to detect the mutations, SSCP (single strand conformation polymorphism) method was used and SSCP polyacrylamide gels were staind by silver nitrate. Abnormal bands were selected as mutation compare to controls. 2 mutations in exon 5 and 4 mutations in exon 8 were detected by analysing of SSCP gels. No satistical relationship differences were found between breast cancer and different tumour establisher agents. Due to some limitations in our study, such as: number of patients and exons that were studied, could not conclude an exact interpretation between P53 gene mutation and breast cancer. In order to reveal dominant P53 gene mutations in iranian people, we recommend performing this study on more patients with breast cancer and all exons of P53 gene in Iran.