Clinical impact of PTEN rs701848 as a predictive marker for breast cancer.

Background: The incidence of Breast cancer (BC) is currently augmented and it has become the most common malignant cancer in females. Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene as a result of blocking the phosphorylation of PIP3 in PI3K pathway.

Methods: The computational bioinformatics tools were performed to determine the link between PTEN rs701848T/C genetic variants and breast cancer progression. 50 healthy matched controls and 100 Egyptian women with breast cancer were enrolled in the study. The PTEN rs701848T/C polymorphism was assessed using qRT-PCR. Then the proteomic level of PTEN was measured by ELISA technique.

Results: Breast cancer patients had considerably higher (TC) genotype frequency than controls, p = 0.03. Moreover, TC carriers had a higher chance of developing tumors with advanced stage, big tumor size, and metastasis at further sites. Regarding proteomic level of PTEN, a remarkable decline was correlated significantly with disease progression. Moreover, the ROC curve analysis showed that the PTEN protein showed comparable diagnostic accuracy in distinguishing between different BC stages.

Conclusion: The current research provides insight into the impact of PTEN as a predictive marker for BC development and progression at genomic and proteomic levels.