BRCA2, like BRCA1, is a gene that plays a crucial role in maintaining cellular DNA integrity. Specifically, it's located on human chromosome 13 and is also known as a tumor suppressor gene. BRCA2 is vital for repairing DNA double-strand breaks, particularly through the homologous recombination repair pathway.
Mutations in the BRCA2 gene significantly increase the risk of several types of cancer, most notably breast and ovarian cancers. Men with harmful BRCA2 mutations also have an increased risk of breast cancer, though it's less common than in women, as well as a higher risk of prostate cancer. Additionally, both men and women with BRCA2 mutations may have increased risks of other types of cancer, such as pancreatic cancer.
Genetic testing for BRCA2 mutations is often recommended for individuals with a strong family history of breast, ovarian, or related cancers. This information can be crucial for making informed decisions about cancer surveillance and prevention strategies. In some cases, preventive measures like prophylactic surgeries, increased surveillance, or chemoprevention might be considered.
Understanding the status of the BRCA2 gene in an individual can also have implications for targeted therapies in cancer treatment, as certain medications are more effective in cancers driven by BRCA mutations.