Understanding BRCA1 and BRCA2 Mutations
BRCA1 and BRCA2 are “breast cancer genes” that produce tumor suppressor proteins responsible for repairing damaged DNA and maintaining the stability of the cell's genetic material.
When mutations occur in these genes, the ability to repair DNA damage is compromised, increasing the risk of developing certain types of cancer, including breast and ovarian cancer.
Who is at risk of the BRCA gene?
BRCA1 and BRCA2 can be inherited from a parent and are more common in certain populations, such as those of Ashkenazi Jewish descent.
Individuals with a BRCA1 mutation have a significantly higher lifetime risk of developing breast and ovarian cancer compared to those without the mutation.
What are the differences between BRCA1 and BRCA2?
While both BRCA1 and BRCA2 mutations are associated with an increased risk of breast and ovarian cancer, there are some differences between the two genes:
BRCA1
Mutations in the BRCA1 gene are associated with a higher risk of developing breast cancer at a younger age, typically before the age of 50. In addition to breast and ovarian cancer, BRCA1 mutations may also increase the risk of other cancers, such as prostate and pancreatic cancer.
BRCA2
Mutations in the BRCA2 gene are also associated with an increased risk of breast and ovarian cancer, but the risk is typically slightly lower than that associated with BRCA1 mutations. Breast cancer risk with BRCA2 mutations tends to occur at a later age, often after the age of 50. BRCA2 mutations may also increase the risk of male breast cancer and other cancers, such as prostate and pancreatic cancer.
How do I determine if I have the BRCA1 or BRCA2 gene?
If you have a family history of breast or ovarian cancer or other risk factors suggestive of a BRCA1 or BRCA2 mutation, we recommend scheduling a consultation with a healthcare professional. During your consultation, you may be recommended for the following:
- Genetic Testing: Genetic testing for BRCA1 and BRCA2 mutations to identify inherited genetic alterations associated with an increased risk of breast and ovarian cancer.
- Personalized Screening: Personalized screening recommendations based on your genetic test results, family history, and individual risk factors. Screening may include breast imaging studies such as mammography, breast MRI, or breast ultrasound for early detection and surveillance.
- Risk-Reducing Strategies: Risk-reducing strategies such as prophylactic surgery (mastectomy or oophorectomy) or chemoprevention (medications to reduce cancer risk) may be considered for individuals with BRCA1 or BRCA2 mutations.