Bioinformatics and Molecular Analysis of the Breast Cancer Susceptibility Gene BRCA1 in Breast Cancer

Background: The breast cancer susceptibility gene (BRCA1) encodes a tumor suppressor protein which plays a vital role in the DNA damage repair and transcriptional regulation among other functions. Bioinformatics is a newly-emerged discipline that uses computer, mathematics, and statistics in molecular biology in order to analyze the large amounts of biological data quickly, freely, and accurately. Methods: The BRCA1 transcript (mRNA) levels were checked by using real-time quantitative polymerase chain reaction (RT-qPCR) in four sporadic breast cancer cell lines: MCF-7, T47D, MDA-MB-231, and MDA-MB-468 compared to the normal breast tissue. Bioinformatics tools were also used to compare and analyze different aspects of BRCA1 transcripts (multiple different mRNAs produced by a single gene) and splice variants (multiple proteins encoded by the same gene). Results: The level of BRCA1 mRNA was overexpressed in the studied breast cancer cell lines relative to the normal breast cDNA. Also, the bioinformatics software tools provided many important features of this gene that would help explain numerous controversial laboratory findings. Conclusions: The data presented here support a role for BRCA1 overexpression in the pathogenesis of sporadic breast cancer. The bioinformatics analysis of BRCA1 mRNA and protein variants can provide information essential for cancer diagnosis or therapy. The biological data gained from these tools can help authors make better decisions before launching expensive experiments.