Objective:To identify BRCA1 gene variants and predict their potential role in development of breast cancer.Material and Methods:This case–control study included 250 breast cancer patients and an equal number of healthy controls recruited from Department of Radiography & Cancer Screening Affiliated Hospital, Lahore, Pakistan, between December 2025 to March 2026. Demographic information was collected using structured questionnaires, while clinical data were obtained from mammography, ultrasonography, histopathology, and immunohistochemistry reports. Polymerase chain reaction (PCR) followed by Sanger sequencing was performed to detect BRCA1 gene variants. In silico analyses were conducted to assess the functional impact of identified variants, including effects on protein function, miRNA binding sites, and mRNA secondary structure and stability.Results:Invasive ductal carcinoma was the most frequently observed histological subtype. Advanced age [OR: 2.81; 95% CI: 1.60–4.95; p = 0.0003] and a positive family history of breast cancer [OR: 4.32; 95% CI: 1.73–10.76; p = 0.001] were identified as significant risk factors. Six BRCA1 variants were detected. Two novel missense variants (Chr17:43082553A>T and Chr17:43093710A>T) were predicted to be deleterious, potentially disrupting interactions with PALB2 and the NLS2 site of importin-α, respectively. In silico analysis also predicted the loss of the hsa-miR-1179 binding site due to the Chr17:43093220T>C variant. Additionally, four variants were predicted to alter mRNA secondary structure and stability.Conclusion:BRCA1 expression is expected to change in novel variations found in this study.   To further clarify and validate the functional significance of the found BRCA1 genetic variation for its involvement in breast oncogenesis and for its potential therapeutic development, however, expressional-based study is needed. Further research is required to examine additional tumor suppressor genes, such as BRCA2, in cases of breast cancer. Additionally, a multi-omics approach ought to be used in order to obtain a more comprehensive molecular knowledge of breast cancer.