A Study on Incidence of Expression of Mutated BRCA1 Gene among Breast Carcinoma Patients and its Impact on Biological Behaviour

Abstract

Introduction: Breast cancer is one of the leading causes of cancer-related morbidity and mortality in women worldwide. It is a heterogeneous disease, with genetic, hormonal, and environmental factors contributing to its development and progression. Among the most significant genetic factors influencing the risk and prognosis of breast cancer are mutations in the BRCA1 and BRCA2 genes, which are known to predispose individuals to hereditary forms of breast and ovarian cancers. Aims: This study aims to determine the incidence of BRCA1 gene mutations among breast carcinoma patients and analyze its impact on tumor characteristics, clinical outcomes, and prognosis. Additionally, the study will explore the potential for personalized treatment strategies based on BRCA1 mutation status. Materials & Methods: This is a prospective study conducted at the Institute of Postgraduate Medical Education and Research, SSKM Hospital, Kolkata, from January 2016 to August 2017, with a sample size of 50 breast carcinoma patients with BRCA1 gene mutations. Result: BRCA1 levels were highest in Grade I tumors (mean 102.73 ng/ml), followed by Grade II (mean 27.61 ng/ml) and Grade III tumors (mean 26.11 ng/ml). These findings suggest that BRCA1 expression decreases with increasing tumor grade, indicating its potential role in tumor aggressiveness. Conclusion: We concluded that according to our research, there were substantial differences in BRCA1 gene mutation levels among tumor stages, histological grades, and lymph node involvement groups. This suggests that BRCA1 expression may be correlated with the aggressiveness and progression of tumors.