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Review Article

RMJ. 2024; 49(1): 190-193


Tumour suppressor genes involved in human breast cancer and its applications. An approach to best predicted markers

Saba Munir, Yasir Nawaz, Fouzia Tanvir, Asma Umar, Muhammad Luqman, Sadaf Ambreen.




Abstract

One-third of females experience breast cancer in their lifetime. An increase in gene variations amplifies the likelihood of developing breast cancer. While most cases of breast cancer are sporadic, a significant portion is due to hereditary predisposition. Tumor suppressor genes function in suppressing tumor formation, whereas oncogenes, responsible for gene mutations, contribute to cancer development.
Three pathways, including estrogen receptors (ER), Human Epidermal Growth Factor 2 (HER2) signalling, and recognized Wnt signalling, direct the growth of mammary glands and breast cancer stem cells, serving as reliable predictors for breast cancer. Tumor suppressor genes such as TP53 and the PIK3 gene play a vital role in tumor suppression. TP53 mutations are an early event in breast cancer development, and they are associated with a poor prognosis and resistance to chemotherapy. In the treatment of ER-positive breast cancer patients with PIK3CA mutations, PI3K and PIK3 inhibitors, along with AKT inhibitors, are currently being employed.

Key words: Breast cancer, tumor suppressor gene, mutations, genes, estrogen receptors, progesterone receptors.






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