بررسي جهش هاي ژن فسفاتيديل اينوزيتول 3-كيناز در سرطان پستان و ارتباط آن با متاستاز در جمعيت اصفهان

The phosphatidylinositol 3-kinases (PI3Ks) are a family of serin/thereonin kinase enzymes which are activated in response to external stimuli by tyrosine kinase receptors. Active PI3K participate in various signaling pathway including proliferation, differentiation, cell cycle control and apoptosis through producing PIP3 as second messenger and activating AKT. Class I of this family enzyme is heterodimer comprised of a catalytic and a regulatory subunit. Mutations of catalytic subunit can increase the enzyme activity and cause uncontrolled growth of the cells. This finally results in the cells, becoming cancerous. Previous studies indicate high percentage of mutation in this gene. Considering the high incidence of breast cancer in Isfahan, in this study mutations of this gene in breast cancer patients are investigated. DNA from 60 patient samples and 35 controls were extracted and the exons were amplified by PCR. Then mutations of this gene were analyzed by SSCP technique. Based on the results of this study, 28% mutations in this gene were reported, which approves the oncogenic feature of the PI3K. Positive association between mutations of the gene and lymph node involvement with P=0.01 and odd ratio = 7 indicates the role of this pathway in metastasis. The high percentage of mutation in this gene and its role in metastasis show the importance of this pathway for therapeutic purposes in order to prevent and stop the growth of breast cancer.