UAB Medicine News


Assessing Breast Cancer Risk: Should You Be Tested for the BRCA Genes?


Genes are sequences of DNA responsible for us inheriting certain characteristics from our parents, from hair and eye color to the likelihood that a certain disease will present itself later in life. BRCA is an abbreviation for the breast cancer gene, and there are two different BRCA genes that affect a person’s chances of developing breast cancer.

It might seem beneficial for everyone to undergo BRCA gene testing to assess their breast cancer risk. However, Catherine Parker, MD, a breast surgical oncologist at the UAB Multidisciplinary Breast Clinic, says this preventive measure is not recommended for everyone, adding that there are additional ways to reduce your breast cancer risk.

What are the BRCA Genes?

The two genes known to be associated with breast cancer are known as BRCA1 and BRCA2. These genes do not cause breast cancer; instead, they help prevent it by repairing damaged DNA and keeping tumors from growing uncontrollably. The problem is that when the BRCA genes are mutated, they cannot repair DNA breaks to prevent breast cancer. An estimated one in 400 people have a mutated BRCA1 or BRCA2 gene.

What Does a BRCA Gene Test Involve?

Researchers developed a test to determine whether a BRCA gene mutation exists in the body, thereby helping patients make proactive and preventive decisions about their health. In addition to breast cancer, a BRCA gene mutation also may reveal an increased risk of ovarian cancer.

“The BRCA1 and BRCA2 gene test is most often a blood test,” Dr. Parker says, “but another method of testing utilizes a saliva sample.”

A genetic counselor can recommend the most appropriate type of genetic test for your particular situation. It may take a few weeks for the results to become available.

Who Should Be Tested?

Dr. Parker says it is important that patients first meet with a genetic counselor to determine if they meet the criteria for genetic testing under the current guidelines. “Then, if testing is recommended and performed, the genetic counselors provide patients with a detailed explanation of results and implications for patients and family members,” she says.

This testing process often begins when a family member is diagnosed with breast cancer or ovarian cancer, because abnormal genes linked to these diseases can be inherited. It is natural and quite common for family members to want to plan ahead for their own health upon learning of a cancer diagnosis in a loved one.

“Traditionally, the best person in a family to undergo genetic testing is the youngest living member with a diagnosis of cancer,” Dr. Parker says.

In situations where there are no living relatives with cancer, or if those individuals are not able to be tested, a genetic counselor can help family members decide who is the best person to undergo testing. Most doctors do not recommend testing family members under the age of 18, since effective therapies to treat breast cancer in children have yet to be developed. Also, such testing raises questions about whether children have the capacity to make decisions about their long-term cancer risks.

BRCA Gene Testing and Insurance

Understandably, many people are concerned about whether their health insurance will cover BRCA gene testing. Under the Affordable Care Act, BRCA1 and BRCA2 mutation testing is covered for some women who have not already been diagnosed with a cancer-related mutation and who meet specific testing recommendations. Meanwhile, Medicare may cover testing for women who have existing symptoms of gene mutation-related breast or ovarian cancer. However, it is important to check with your own insurance carrier prior to undergoing genetic testing to determine your financial responsibility in advance.

BRCA testing is not always covered by insurance plan, but the out-of-pocket cost for this testing has decreased in recent years to as low as $200-$300 per test for some patients. Although cost should not be the sole determining factor for getting tested, the BRCA gene test is becoming a more viable option for patients who do not have comprehensive health care coverage.

What Happens If You Test Positive?

There are three ways in which gene testing results are reported: negative for mutation, positive for mutation, and a finding of a “variant of unknown significance”, which indicates inconclusive or undetermined risk. Individuals who test positive for a BRCA gene mutation may experience feelings of anxiety, depression, and hopelessness, as well as strained family relationships. However, a positive result also can help patients plan for the future and take steps toward preventive treatment. This is why it’s so important to work with a trusted genetic counselor who can help you work through a range of emotions and support you and your family through the process.

“If a patient tests positive for BRCA1 or BRCA2 mutation, then it is important to meet with a genetic counselor to understand the implications of these results and to be referred to discuss options to reduce the risk of developing breast and ovarian cancer,” Dr. Parker says. “The two main surgical options for risk reduction include prophylactic bilateral mastectomy and prophylactic bilateral salpingo-oophorectomy in women at high risk due to positive BRCA1 or BRCA2 mutations.”

BRCA Gene Testing Considerations

There are many factors to consider regarding testing, as well as some common myths that should be dispelled. For instance, not all family members should be tested for BRCA gene mutations, and the best person to be tested isn’t always the most recently diagnosed patient.

“At UAB, we rely on our genetic counselors to evaluate and determine which patients qualify for genetic testing, since not all patients meet the criteria, and it is important that the correct family member be tested, which may not be the patient,” Dr. Parker says.

Also, it is possible for a person to develop breast cancer despite receiving a negative BRCA test result, as these gene mutations are just one of many causes of the disease.

“While genetic testing is highlighted and important, only 5-10 percent of breast cancers are due to these gene mutations,” Dr. Parker says. “Therefore, we stress that women with average risk should begin getting annual screening mammograms at 40 years of age and have self-breast health awareness.”

If breast cancer exists in your family and you are concerned about your likelihood of developing it, there are preventive actions you can take to reduce your risk. Preventing cancer begins with healthy habits, such as not smoking, limiting your alcohol intake, and maintaining a healthy weight. Avoiding environmental pollution as much as possible, exercising regularly, and eating a Mediterranean-style diet rich in fruits and vegetables also can help prevent breast cancer.

Click here to learn more about breast cancer care at UAB Medicine.

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