The Correlation of Mutations and Expressions of Genes within the PI3K/Akt/mTOR Pathway in Breast Cancer-A Preliminary Study

• Published in: International journal of molecular sciences Vol. 22; no. 4; p. 2061
• Main Authors: Kołodziej, Przemysław, Nicoś, Marcin, Krawczyk, Paweł A, Bogucki, Jacek, Karczmarczyk, Agnieszka, Zalewski, Daniel, Kubrak, Tomasz, Kołodziej, Elżbieta, Makuch-Kocka, Anna, Madej-Czerwonka, Barbara, Płachno, Bartosz J, Kocki, Janusz, Bogucka-Kocka, Anna
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI 19.02.2021; MDPI AG
• Subjects: Aged; Aged, 80 and over; biomarkers; breast cancer; Breast Neoplasms - genetics; Databases, Genetic; DNA Mutational Analysis; expressions of genes; Female; Gene Expression Regulation, Neoplastic; Humans; Middle Aged; Mutation - genetics; mutations; Phosphatidylinositol 3-Kinases - metabolism; PI3K/Akt/mTOR pathway; Proto-Oncogene Proteins c-akt - metabolism; Signal Transduction - genetics; therapeutic targets; TOR Serine-Threonine Kinases - metabolism; breast cancer; mutations; therapeutic targets; PI3K/Akt/mTOR pathway; expressions of genes; biomarkers
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms22042061

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 and genes was 29.63%. It was stated that the average expression level of the , , genes in the group of breast cancer patients is lower in comparison to the control group, while the average expression level of the and 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 and genes, the 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 and gene expression in the case of patients with mutations and without mutations.