Should You Get Tested for the Breast Cancer Gene?

By:    Medically Reviewed: Tom Iarocci, MD   Published: October 18, 2013

Angelina Jolie’s courageous decision to undergo a double mastectomy, based on her high inherited risk of breast cancer, helped draw attention to this health crisis. It also paved the way to better testing and enhanced communication about the disease.

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Angelina Jolie made headlines when she announced her decision to undergo a preventive double mastectomy because she carried “faulty” breast cancer genes.

Generally speaking, women have a 12 percent risk of developing breast cancer, but if they (like Jolie) inherit a harmful mutation in one or both of the breast cancer genes — clinically referred to as the BRCA1 and BRCA2 genes — that risk increases. 

"If you are one of the women who has inherited [a harmful BRCA1 or BRCA2 gene mutation], there is as great as an 80 percent chance that you will get breast cancer," says Jennifer Drukteinis, M.D., assistant professor of radiology at the H. Lee Moffitt Cancer Center in Tampa, Fla.

So how do you know if you’re at risk? Through genetic testing. Called the BRCA gene test, this procedure is a simple blood or saliva test conducted in a doctor’s office. The main drawback for some women is that the test is very expensive, and insurance may not cover it, says Drukteinis. Depending on your health care situation, the test can cost upwards of $500 to $3,000, she adds.

Here's help knowing if you need to make that kind of investment.

What are the breast cancer genes?

The BRCA1 and BRCA2 genes are the breast cancer genes, and everyone has them. They’re called tumor suppressor genes, and normally, they protect against cancer. But when one of them has a mutation, the tumor suppression no longer works, and abnormal cells may grow out of control and become malignant.

Some harmful mutations — such as those in BRCA1 and BRCA2 genes — are passed along from parent to child. Mutations in BRCA1 and BRCA2 follow an inheritance pattern such that if a parent has the mutation, there’s a 50 percent chance the child will inherit it. Together, these mutations cause 5 to 10 percent of all breast cancers, and it's estimated that 16 to 40 percent of women who inherit the mutations will develop ovarian cancer.

Men who inherit the mutation, particularly a mutated BRCA2 gene, are at increased risk of breast cancer, too. Having either gene affected raises a man's risk of prostate cancer.

Who should be tested for the BRCA gene?

If you have a family history of breast or ovarian cancer, the BRCA gene test might be worth looking into. The U.S. Preventive Services Task Force, an independent panel of primary care providers who are considered experts in prevention and evidence-based medicine, suggests you consult with your doctor about the test if you have any of these family patterns:

  • A male family member with breast cancer;
  • Breast cancer in two immediate family members (including mother, father, brother, sister or child), one of whom was diagnosed by age 50 or younger;
  • An immediate family member with cancer in both breasts;
  • Breast cancer in three or more extended family members (including  grandparent, grandchild, uncle, aunt, nephew, niece), regardless of how old she was when diagnosed; or
  • A combination of breast and/or ovarian cancer in immediate or extended family members.

If you meet any of the criteria above or suspect you may have a high-risk family history, your doctor can refer you to a genetic counselor for guidance, or you can find one by contacting the National Society of Genetic Counselors

Take the next steps

First and foremost, know your family history. Talk to your relatives about their health and their parents’ health. If a relative had breast or ovarian cancer, record when it was diagnosed and the age of the person. Only about 2 percent of women have a strong family history of breast cancer, but if you have it, you need to do whatever you can to prevent it.

If you learn you do have a BRCA1 or BRCA2 mutation, understand that it doesn’t mean you will get cancer; it only means you’re at high risk. Some women opt for a double mastectomy, as Jolie famously did, but there are other preventive steps. Though less certain, these steps can help you lower your risk or detect cancer early. According to the Centers for Disease Prevention and Control, they include:

  • Having more frequent breast screenings, either through a mammogram and/or MRI, starting at a younger age than generally recommended;
  • Screening for ovarian cancer by having a CA-125 test, which measures the amount of protein in your blood, and an ultrasound;
  • Taking medications to lower the chance of developing breast or ovarian cancer; and
  • Making lifestyle modifications, such as quitting smoking and incorporating daily exercise into your life.
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sources
  • Jennifer Drukteinis, MD, assistant professor of radiology at the H. Lee Moffitt Cancer Center in Tampa, Fla. http://www.moffitt.org. Interviewed September 2013.
  • National Cancer Institute. "BRCA1 and BRCA2: Cancer Risk and Genetic Testing." Updated August 2013. http://www.cancer.gov. Accessed October 2013.
  • American Cancer Society. "Oncogenes, Tumor Suppressor Genes, and Cancer.” Updated December 2011. http://www.cancer.org. Accessed October 2013.
  • Centers for Disease Control and Prevention. "Breast and Ovarian Cancer and Family Health History." Updated May 2013. http://www.cdc.gov. Accessed October 2013.
  • Centers for Disease Control and Prevention. “Genetic Counseling and Evaluation for BRCA1/2 Testing" Updated May 2013. http://www.cdc.gov. Accessed October 2013.
  • Dr. Susan Love Research Foundation. "Inherited Mutation." http://www.dslrf.org. Accessed September 2013.
  • NCI Dictionary of Cancer Terms. http://www.cancer.gov. Accessed October 2013.
  • Genetics Home Reference. “Second-degree relative.” September 2013. http://ghr.nlm.nih.gov. Accessed October 2013.
  • U.S. Preventive Services Task Force. “Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility.” http://www.uspreventiveservicestaskforce.org. Accessed October 2013.
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