Male Breast Cancer and BRCA2: A Study from West Bengal, India

One of the known risk factors for male breast cancer is germline mutations in the BRCA2 gene, which are linked to genomic alterations. Men carrying a germline BRCA2 mutation have a higher risk of developing breast carcinoma than the general population. Breast Cancer is the fifth leading cause of cancer-related deaths worldwide and the most common cancer in developed and developing countries. Male breast cancer accounts for approximately 1% of all breast cancer cases. The incidence of male breast cancer has increased over the past few decades, yet its etiology is still poorly understood, which may be due to the rarity of the disease and the lack of large-scale genetic epidemiologic studies. The present study aimed to evaluate the risk of developing Breast Carcinoma among Bengalee Hindu males. For the study, 36 male patients and 70 matched controls were included in this study. DNA sequencing and gene expression analysis revealed a significant association (p < 0.0001) between male breast cancer patients and BRCA2 mutations (rs1799943). There were many intronic variations whose associations were not determined. A 2.4-fold downregulation of tumour proteins was associated with patient risk, whereas controls showed a 1.28-fold upregulation. The present study, being the first attempt in Eastern India, envisaged a significant association (p < 0.001) of the disease for mutations in the exonic and flanking regions of the gene (OR-9.92; 95% CI = 4.40-22.37; p < 0.0001).