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BRCA genetic testing: What a positive result means

If you received a positive BRCA test result, don't worry: there's hope.

While it’s generally recommended only for those who have a family or personal history of breast or ovarian cancer, BRCA (Breast Cancer Susceptibility Gene) genetic testing is a blood test that uses DNA analysis to recognize cellular mutations in BRCA1 and BRCA2; the two breast cancer susceptibility genes.

Having a mutation in one of these genes increases your risk of cancer since the mutated cells are more likely to develop harmful genetic alterations that may result in cancer. So, what happens if you get a positive result? You have options, but it generally means you and your family need to be diligent about your medical and screening plans. Here’s what else can follow a positive result.

It does not mean that you will inevitably develop cancer.

While having a positive BRCA test result does put you at an increased risk of developing breast cancer or ovarian cancer, it does not mean that you will ultimately get a cancer diagnosis. Some women who inherit a harmful BRCA1 or BRCA2 mutation never develop breast or ovarian cancer.

Finding out that you have a genetic mutation sounds scary and life-threatening (and of course, it can be), but there are ways to reduce your risk of cancer. It’s important to remind yourself that by knowing about your mutation, you are in a much better position to seek preventative care or detect any signs of cancer early, so you can start treatment right away if necessary.

It does mean you will need to increase your cancer screenings.

Since having a BRCA mutation dramatically increases your risk of developing cancer, women who test positive for this mutation should start cancer screenings at a younger age, and at an increased frequency, than those who do not. Enhanced screening may improve your chances of detecting breast cancer at an early stage, when it may have a better chance of being treated successfully.

The American Cancer Society recommends that women who carry these mutations have a mammogram every year, beginning at age 30. It may even be a good idea to include MRIs as part of your enhanced screening. Be sure to consult your doctor to find out what your recommended cancer screening regimen is.

It may mean using medication or getting surgery to reduce your risk of cancer.

Depending on your situation, a positive BRCA test may mean you should be actively combatting the development of cancerous cells through either medication or what is known as prophylactic, or risk-reducing, surgery.

Oral contraceptives (birth control pills) are thought to reduce the risk of ovarian cancer by about 50 percent both in the general population and in women with harmful BRCA1 or BRCA2 mutations, so this may be an option for you. Your doctor may also prescribe chemoprevention drugs, such as tamoxifen or raloxifene, to reduce your risk of cancer.

Another possible option would be undergoing prophylactic surgery, which involves removing as much of the at-risk tissue as possible. This could mean the removal of one or both breasts, fallopian tubes, or ovaries. A preventative mastectomy reduces breast cancer risk for BRCA gene carriers by about 90 percent, according to several studies.

It may have implications for other family members, especially future generations.

If you receive a positive BRCA test result, you may pass on the mutation to your children. Studies have shown that children of both men and women with BRCA genetic mutations have a 50 percent chance of inheriting their parent’s mutation. Similarly, your full siblings will also have a 50 percent chance of having inherited the mutation. It is important to share positive test results with family members, so that they can pursue testing as well.

Getting a positive BRCA test result can be scary and emotional. Whatever your plan of action, be sure to weigh all of your options and develop it with the help of your doctor.

This article is for informational purposes only. It is not intended to treat or diagnose any condition. If you have a medical concern, please speak with your doctor.

Sinclair Broadcast Group is committed to the health and well-being of our viewers, which is why we initiated Sinclair Cares. Every month we’ll bring you information about the “Cause of the Month,” including topical information, education, awareness, and prevention. September is Healthy Aging Month.

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