In recent years, genetic testing has become a crucial tool in understanding and managing health risks. One of the most widely recognized tests is the BRCA test, which assesses your risk for breast, ovarian, and other cancers. But what exactly does a BRCA test result mean, and how should you interpret it?
There are two BRCA genes. These genes are responsible for producing proteins that help repair DNA. When these genes are working properly, they actually protect against cancer by maintaining the integrity of your cells. However, certain inherited mutations in these genes can increase the risk of developing certain cancers, most notably breast and ovarian cancer.
The BRCA test is often recommended for individuals with a family history of breast, ovarian, or other cancers that may have a hereditary component. If you’re considering genetic testing, understanding how to interpret the results is essential in making informed health decisions.
A positive test result means that you have inherited a harmful mutation in either the BRCA1 or BRCA2 gene. This mutation increases your risk of developing certain cancers, particularly breast and ovarian cancer. The exact risk varies depending on the specific mutation and family history, but studies show that women with a BRCA1 mutation have a 55% to 65% lifetime risk of developing breast cancer, compared to the general population risk of about 12%. For ovarian cancer, the risk may range from 40% to 50%, compared to around 1% in the general population.
A positive BRCA result may also be associated with a higher risk for other cancers, such as pancreatic cancer and prostate cancer, in both men and women. However, a positive result doesn’t guarantee that you will develop cancer, but it does mean your risk is significantly higher than average.
A negative test result means that no BRCA mutations were found in your DNA. However, this doesn’t mean you are entirely without risk for developing breast, ovarian, or other cancers. There are still other genetic mutations and environmental factors that can contribute to cancer development. Additionally, some individuals may have genetic mutations that haven’t yet been identified, so the negative result doesn’t rule out the possibility of inherited cancer risk.
In some cases, the test might reveal a variant of uncertain significance. This means that a mutation is present, but it is not yet clear whether it is harmful. Regardless of the test results, it’s a stressful process.
What happens after you get your results?
For individuals with a BRCA mutation, early and more frequent screening for breast and ovarian cancer is often recommended. This also includes starting mammograms and MRIs earlier than the typical screening guidelines or having more frequent exams. For women at high risk, regular clinical breast exams and ultrasounds may also be part of the surveillance.
Lifestyle changes, such as maintaining a healthy weight, avoiding alcohol, and managing stress are all great steps to take regardless of the BRCA test results. Even though you may have a genetic mutation, there are still environmental factors that can influence those genes one way or another.
For those at very high risk, surgical options may be considered, such as preventive (prophylactic) mastectomy (removal of the breasts) or oophorectomy (removal of the ovaries). These procedures can dramatically reduce the risk of cancer, but they come with emotional, physical, and hormonal implications that should be carefully discussed with a healthcare provider.
A decision to do the BRCA test should be made between you and your favorite provider at Madison Women’s Clinic. There are a lot of feelings and emotions
