Breast cancer (BC) is the most prevalent malignancy among women globally. Historically regarded as a disease affecting older, middle-aged women, recent years have seen a growing incidence of BC among younger females, a trend also observed in studies conducted in Pakistan. This paper reviews the mutant functions of tumor suppressor genes (BRCA1, BRCA2, p53, ATM, and PTEN), epigenetic alterations, and the role of estrogen receptors in breast cancer development. Additionally, we examine the current BC scenario in Pakistan, highlighting a notably higher incidence among younger women. Data from SKMCH and RC indicate that women aged 45-49 years exhibit the highest incidence rate of 45.42%. Limited studies have reported a high expression of ER, PR, and HER-2/neu in Pakistani women. Furthermore, the presence of the BRCA1 (c.1961dupA) mutation in Pakistan aligns with global findings. However, no comprehensive studies have been conducted to investigate epigenetic transformations in breast tumors within the Pakistani population. This critical area of research warrants further exploration to provide a more complete understanding of BC in Pakistan.

Breast Cancer, Epigenetic Transformation, Estrogen Receptor

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