Correlation between important genes of mTOR pathway (PI3K and KIT ) in Iranian women with sporadic breast cancer

Medical Journal of the Islamic Republic of Iran
Maryam RahimiElahe Keyhani

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, administr...Continue Reading

Citations

Aug 22, 2020·Reports of Biochemistry & Molecular Biology·Maryam RahimiElahe Keyhani

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BETA
electrophoresis
PCR

Software Mentioned

codon code aligner
OligoAnalyzer
Coffalyser
UCSC genome browser
Gene Runner

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