The Correlation of Mutations and Expressions of Genes within the PI3K/Akt/mTOR Pathway in Breast Cancer—A Preliminary Study
There is an urgent need to seek new molecular biomarkers helpful in diagnosing and treating breast cancer. In this elaboration, we performed a molecular analysis of mutations and expression of genes within the PI3K/Akt/mTOR pathway in patients with ductal breast cancer of various malignancy levels....
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-02-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/22/4/2061 |
| Summary: | There is an urgent need to seek new molecular biomarkers helpful in diagnosing and treating breast cancer. In this elaboration, we performed a molecular analysis of mutations and expression of genes within the PI3K/Akt/mTOR pathway in patients with ductal breast cancer of various malignancy levels. We recognized significant correlations between the expression levels of the studied genes. We also performed a bioinformatics analysis of the data available on the international database TCGA and compared them with our own research. Studies on mutations and expression of genes were conducted using High-Resolution Melt PCR (HRM-PCR), Allele-Specific-quantitative PCR (ASP-qPCR), Real-Time PCR molecular methods in a group of women with ductal breast cancer. Bioinformatics analysis was carried out using web source Ualcan and bc-GenExMiner. In the studied group of women, it was observed that the prevalence of mutations in the studied <i>PIK3CA</i> and <i>AKT1</i> genes was 29.63%. It was stated that the average expression level of the <i>PIK3CA</i>, <i>PIK3R1</i>, <i>PTEN</i> genes in the group of breast cancer patients is lower in comparison to the control group, while the average expression level of the <i>AKT1</i> and <i>mTOR</i> genes in the studied group was higher in comparison to the control group. It was also indicated that in the group of patients with mutations in the area of the <i>PIK3CA</i> and <i>AKT1</i> genes, the <i>PIK3CA</i> gene expression level is statistically significantly lower than in the group without mutations. According to our knowledge, we demonstrate, for the first time, that there is a very strong positive correlation between the levels of <i>AKT1</i> and <i>mTOR</i> gene expression in the case of patients with mutations and without mutations. |
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| ISSN: | 1661-6596 1422-0067 |