Medical Journal of the Islamic Republic Of Iran
مجله پزشکی جمهوری اسلامی ایران
Med J Islam Repub Iran
Medical Sciences
http://mjiri.iums.ac.ir
2
journal2
1016-1430
2251-6840
8
10.18869/mjiri
14
8888
13
en
jalali
1396
11
1
gregorian
2018
2
1
32
1
online
1
fulltext
en
Correlation between important genes of mTOR pathway (PI3K and KIT) in Iranian women with sporadic breast cancer
Medical Genetics
Medical Genetics
Original Research
Original Research
<strong>Background: </strong>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.<br>
<strong> Methods:</strong> 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.<br>
<strong> Results:</strong> 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.<br>
<strong> Conclusion: </strong>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.<br>
mTOR pathway, PI3K gene, KIT gene, Breast Cancer
789
793
http://mjiri.iums.ac.ir/browse.php?a_code=A-10-3996-1&slc_lang=en&sid=1
Maryam
Rahimi
maryamrahimi1986@yahoo.com
200319475328460042514
200319475328460042514
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Farkhondeh
Behjati
fbehjati@gmail.com
200319475328460042515
200319475328460042515
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Nazanin
Taheri
ntaheri67@yahoo.com
200319475328460042516
200319475328460042516
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Shadi
Hosseini
shadihosseini7@gmail.com
200319475328460042517
200319475328460042517
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Hamid Reza
Khorram Khorshid
hrkhkh@yahoo.com
200319475328460042518
200319475328460042518
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Fatemeh
Aghakhani Moghaddam
shahla@hotmail.com
200319475328460042519
200319475328460042519
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Masoud
Karimlou
mkarimlo@yahoo.com
200319475328460042520
200319475328460042520
No
Department of Epidemiology and Biostatistics, Tehran Medical Branch, Islamic Azad University, Tehran, Iran
Saghar
Ghasemi
ghasemisaghar@gmail.com
200319475328460042521
200319475328460042521
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Niloofar
Bazazzadegan
ni.bazazadegan@uswr.ac.ir
200319475328460042522
200319475328460042522
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Fereidoon
Sirati
f.sirati@tums.ac.ir
200319475328460042523
200319475328460042523
No
Cancer Institute, Department of surgery- Tehran University of Medical Sciences, Tehran, Iran
Elahe
Keyhani
ekeyhani1058@gmail.com
200319475328460042524
200319475328460042524
Yes
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran