BRCA mutation
BRCA mutation
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumor suppressor genes. These genes produce proteins that help repair damaged DNA, playing a role in ensuring the stability of a cell's genetic material. When either of these genes is mutated, DNA damage may not be repaired properly, and cells are more likely to develop additional genetic alterations that can lead to cancer.
Types of BRCA Mutations[edit | edit source]
BRCA mutations can be inherited or acquired. Inherited mutations are passed from parents to their children and are present in all cells of the body. Acquired mutations occur in individual cells during a person's lifetime and are not passed on to the next generation.
BRCA1[edit | edit source]
The BRCA1 gene is located on chromosome 17. Mutations in this gene are associated with a higher risk of developing breast cancer, ovarian cancer, and other types of cancer.
BRCA2[edit | edit source]
The BRCA2 gene is located on chromosome 13. Mutations in this gene also increase the risk of breast and ovarian cancers, as well as other cancers such as pancreatic cancer and prostate cancer.
Associated Cancers[edit | edit source]
Individuals with BRCA mutations have a significantly increased risk of developing certain types of cancer. These include:
Genetic Testing[edit | edit source]
Genetic testing for BRCA mutations can help identify individuals at high risk for developing cancer. This information can be used to make informed decisions about preventive measures, such as increased surveillance, prophylactic surgeries, or chemoprevention.
Management and Prevention[edit | edit source]
For individuals with BRCA mutations, several strategies can be employed to manage and reduce cancer risk:
- Enhanced screening protocols, including more frequent mammograms and MRI scans.
- Prophylactic surgeries, such as mastectomy and oophorectomy.
- Chemoprevention with medications like tamoxifen or raloxifene.
Implications for Family Members[edit | edit source]
Since BRCA mutations are hereditary, family members of individuals with these mutations may also be at increased risk. Genetic counseling and testing are recommended for family members to determine their risk and consider appropriate preventive measures.
See Also[edit | edit source]
Related Pages[edit | edit source]
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Contributors: Prab R. Tumpati, MD