Medical Journal of The Islamic Republic of Iran (MJIRI)
Iran University of Medical Sciences
Wed, Jul 3, 2024
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Volume 32, Issue 1 (2-2018)
Med J Islam Repub Iran 2018 |
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Rahimi M, Behjati F, Taheri N, Hosseini S, Khorram Khorshid H R, Aghakhani Moghaddam F, et al . Correlation between important genes of mTOR pathway (PI3K and KIT) in Iranian women with sporadic breast cancer. Med J Islam Repub Iran 2018; 32 (1) :789-793
URL: http://mjiri.iums.ac.ir/article-1-4940-en.html
URL: http://mjiri.iums.ac.ir/article-1-4940-en.html
Maryam Rahimi 
, Farkhondeh Behjati , Nazanin Taheri , Shadi Hosseini , Hamid Reza Khorram Khorshid , Fatemeh Aghakhani Moghaddam , Masoud Karimlou , Saghar Ghasemi , Niloofar Bazazzadegan , Fereidoon Sirati , Elahe Keyhani
, Farkhondeh Behjati , Nazanin Taheri , Shadi Hosseini , Hamid Reza Khorram Khorshid , Fatemeh Aghakhani Moghaddam , Masoud Karimlou , Saghar Ghasemi , Niloofar Bazazzadegan , Fereidoon Sirati , Elahe Keyhani
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran , ekeyhani1058@gmail.com
Abstract: (3850 Views)
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.
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.
Type of Study: Original Research |
Subject:
Medical Genetics
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