Abstract

This project will focus on a personal story about the hereditary history of the breast cancer susceptibility gene (​BRCA) ​mutation in a family and a deeper understanding of the gene itself. ​BRCA​ gene mutations pose a considerable risk on patients who inherit the gene, due to loss of protein function from detrimental alteration in the DNA. Several types of cancers arise from the loss of the DNA repairing abilities of the gene. Breast and ovarian cancers are the two most frequently encountered BRCA-related types of cancer. Today, there are countless treatments used to stop the rapid growth of cancer cells, mainly by sending them into premature apoptosis (programmed cell death). An analysis of typical treatments such as surgery, chemotherapy, and radiation will be done, along with personalized treatments which include inhibiting ​poly ADP ribose polymerase​ (PARP) DNA repair proteins and hormone therapy. Besides the risks and treatments for BRCA-related cancers, the most important facet to the gene is finding the definitive variation in the gene before the cancer develops. Scientists and physicians have utilized modern technology to offer new techniques for identifying mutations in the gene. PCR based methods have led to reliable diagnoses of the presence of specific BRCA mutations. Genetic testing has become noticeably more important when looking at inherited mutations throughout family generations. This type of testing allows families to be proactive about the risks and pass on the information for future generations.