Genetic Testing for Breast Cancer

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In May 2013, Angelina Jolie wrote an op-ed for The New York Times about her family’s experiences with breast cancer. Her mother had recently died of the disease. Jolie elected to have genetic testing to see if she carried a genetic predisposition for the disease. After testing, she learned that she carried the gene mutation BRCA1, which increased her risk for breast and ovarian cancer.

Because of her results, Jolie decided to undergo a double mastectomy (removal of both breasts) to protect her health.

Some people are hesitant about genetic testing because they’re afraid of having a double mastectomy or ovary removal. The UMC Cancer Center’s Breast Center of Excellence offers individualized care management strategies that include high risk screening, genetic testing and counseling for families, prophylactic surgeries, and emotional support/counseling for women.

About BRCA and risk factors
BRCA stands for Breast Cancer susceptibility gene. These genes repair damaged DNA, preventing tumors from growing. When there is a genetic mutation, like BRCA1 or BRCA2, those genes fail to protect the cells. Tumors may form.

Carrying either gene doesn’t predict if you’ll get breast cancer, but it measures your risk. If you have the gene, your risk for developing breast cancer goes up.

BRCA1 increases the risk of:

  • Breast cancer: 50% to 85% chance of developing it by age 70
  • Ovarian cancer: 40% to 60% chance of developing it by age 85

BRCA2 increases the risk of breast, ovarian, pancreatic, gallbladder and bile duct cancer and melanoma:

  • Breast cancer: 50% to 85% chance of developing it by age 70
  • Ovarian cancer: The risk increases 16% to 27%
  • For men with BRCA2: The risk of breast and prostate cancer rises.

Testing for BRCA1 and BRCA2
Geneticists recommend testing for people who have a high risk of breast cancer or other cancer in their families. The gene is not always passed down. Your grandmother, aunt or mother may have had breast cancer and tested positive for the gene. Still, you may not have inherited it.

What to expect during genetic testing

1. Genetic counseling
Your genetic counselor will create a positive environment to explore your family history and attitudes toward cancer. A genetic counselor is trained to discuss these sensitive topics and help you understand your feelings and next steps.

During this meeting, you will:

  • Discuss your family history in-depth.
  • Talk about your health.
  • Explore your choices and discuss next steps if your genetic test comes back positive for either gene.
  • Discover your personal beliefs about health and illness. This discussion can help you mentally prepare to receive the results.
  • Explore how you will communicate to relatives the risk factors associated with carrying the gene.

2. Genetic testing
Testing can be performed on hair, cheek cells, urine or other body tissues. You may also have a blood test.

3. Informed consent
You sign documents relating to the topics you discussed with your genetic counselor. This step helps ensure that you understand all of the testing procedures and possibilities.

4. Results
Your genetic counselor should get the results in a few weeks and lets you know if you test positive for either gene. Your genetic counselor helps you correctly interpret the test and your risk.

5. Communication
Depending on your results, you may need to discuss next steps to manage your health. Having a positive test does not mean you need to sign up for surgery tomorrow. Lifestyle changes, medications and regular screenings are all options. If you’re negative, that means you don’t carry BRCA1 or BRCA2 gene mutations, but you may still be at risk for breast cancer.

Information is power. Understanding your risk for breast cancer helps you take charge your health. Learn more about how the Risk Assessment and Prevention Program at the UMC Cancer Center can help empower you here.

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