Correlation between important genes of mTOR pathway ( and ) in Iranian women with sporadic breast cancer.

PI3K/Akt/mTOR pathway is a crucial pathway in the angiogenesis, tumour growth and cell differentiation of several cancers. The and genes are key genes of this pathway. Previous studies have reported the importance of these genes in the development of gastrointestinal carcinoma, leukaemia, and melanomas. The role of mutations and overexpression of and genes in breast cancer has been previously proved. This study investigates the correlation between and gene mutations in sporadic breast cancer. Multiplex Ligation-dependent Probe Amplification (MLPA) technique was used to determine the Copy Number Variation (CNV) of and genes in 34 breast cancer tumours and PCR-sequencing was used to detect the mutation in exons 9 and 20. Our results reported that 27% of patients had CNV of the gene; whereas, 20% and 17.5% of patients, had mutation and CNV in the gene, respectively. We did not found a significant correlation between the mutations of and genes. About two-tenth of the patients revealed CNV and lesser than two-tenth indicated mutation in the gene, whereas one-third of the patients demonstrated CNV in the gene. Thus, administration of the and gene inhibitor drugs might be proposed to suppress breast cancer in patients with mutation and CNV of each of these individual genes.