Author/Authors :
Rahimi, Maryam Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Behjati, Farkhondeh Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Taheri, Nazanin Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Hosseini, Shadi Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Khorram Khorshid, Hamid Reza Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Aghakhani Moghaddam, Fatemeh Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Karimlou, Masoud Department of Epidemiology and Biostatistics - Tehran Medical Branch Islamic Azad University, Tehran, Iran , Ghasemi, Saghar Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Bazazzadegan, Niloofar Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , Sirati, Fereidoon Cancer Institute - Department of surgery- Tehran University of Medical Sciences, Tehran, Iran , Keyhani, Elahe Genetics Research Center - University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Abstract :
Background: PI3K/Akt/mTOR pathway is a crucial pathway in the angiogenesis, tumour growth and cell differentiation of several
cancers. The PI3K and KIT 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 PI3K and KIT genes
in breast cancer has been previously proved. This study investigates the correlation between PI3K and KIT gene mutations in sporadic
breast cancer.
Methods: Multiplex Ligation-dependent Probe Amplification (MLPA) technique was used to determine the Copy Number Variation
(CNV) of PI3K and KIT genes in 34 breast cancer tumours and PCR-sequencing was used to detect the mutation in PI3K exons 9 and
20.
Results: Our results reported that 27% of patients had CNV of the KIT gene; whereas, 20% and 17.5% of patients, had mutation and
CNV in the PI3K gene, respectively. We did not found a significant correlation between the mutations of PI3K and KIT genes.
Conclusion: About two-tenth of the patients revealed CNV and lesser than two-tenth indicated mutation in the PI3K gene, whereas
one-third of the patients demonstrated CNV in the KIT gene. Thus, administration of the PI3K and KIT gene inhibitor drugs might be
proposed to suppress breast cancer in patients with mutation and CNV of each of these individual genes.
