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Mutation Profiling of PI3K/AKT1/MTOR Pathway Genes in Breast Cancer Patients of Pakistan

Mutation Profiling of PI3K/AKT1/MTOR Pathway Genes in Breast Cancer Patients of Pakistan

Muhammad Javed Iqbal1, Farah Rauf Shakoori1*, Bushra Muneer2 and Abdul Rauf Shakoori3

1Institute of Zoology, University of the Punjab, Quid-E-Azam Campus, Lahore, Pakistan
2Institute of Industrial Biotechnology, GC University, Katchehri Road, Lahore, Pakistan
3School of Biological Sciences, University of the Punjab, Quaid-E-Azam Campus, Lahore, Pakistan
*      Corresponding author:


Breast cancer is a growing cause of mortality in females across the world. Studies have shown that breast cancer incidence is variable depending upon various factors like ethnicity among others. For a better success rate in breast cancer treatment with minimum side effects, the world is now focusing on a precision medicine approach for breast cancer treatment. In precision medicine, patient-specific gene mutation (genetic biomarkers) provides the guideline to use a specific drug in a specific dose for a specific patient. The PI3K/AKT1/MTOR (PI3K) pathway is crucial for normal cellular processes. Several activating factors and genetic mutations, in associated genes (PIK3CA, AKT1, MTOR and PTEN), lead this pathway to function abnormally to trigger breast cancer. The mutations in these genes were explored in female patients with breast cancer. The demographic studies showed that all the patients were married, housewives with an average age of 47 years. The invasive ductal and invasive lobular carcinoma were detected in 85% and 15% of cases of all breast cancer patients. These tumors were classified into G1, G2 and G3 grades with an incidence of 12.5%, 42.5% and 45%, and grouped into the anatomic stages IIIA, IIIB and IIIC with 50%, 32.5% and 17.5% respectively. Further, molecular subtyping was done on the bases of cellular expression of hormone receptors by IHC and found 80% Luminal A, 12.5% Luminal B, 5% HER2 enriched and 2.5% Basal-like. Screening of mutations in PIK3CA, AKT1, MTOR and PTEN genes was carried out and analyzed by Next Generation Sequencing (NGS) using the Whole Exome Sequencing (WES) to explore possible mutations in PIK3CA, AKT1, MTOR and PTEN genes. The results revealed that there were 3 mutations namely Q546K, E545K and H1047R were present in the PIK3CA gene. AKT1gene has 2 mutations E17K, and E242 (silent mutation). MTOR gene has 2303, L2208, S1851, A1577, AN999 and D479 mutations, which were found to be silent. PTEN gene has shown 3 mutations R130G, R130Q and R173C. In-silico analysis of SNPs (PIK3CA, AKT1, MTOR and PTEN genes) confirmed that these mutations were responsible for cancer in respective patients under study.

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Pakistan Journal of Zoology


Pakistan J. Zool., Vol. 56, Iss. 1, pp. 01-501


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