Genetic Testing May Help Protect Women from Breast Cancer

With Breast Cancer Awareness Month coming up in October, KentuckyOne Health is encouraging women to protect themselves from breast cancer through new genetic screening methods. Testing for inherited abnormal genes through BRCA genetic testing can help save the lives of those at increased risk for breast cancer.

“Genetic testing is not recommended for all women, but can be helpful for those with a family history of breast cancer to determine if they are at risk,” said Beth Riley, MD, medical oncology, James Graham Brown Cancer Center, University of Louisville. “There is only a small chance that your family carries gene mutations that cause breast cancer. However, gene mutations account for about five to 10 percent of all breast cancers, so it is beneficial for women with a family history to be tested for these genes.”

Some women inherit altered versions of the human genes BRCA1, BRCA2, and PALB2, which can increase a woman’s lifetime risk for developing breast cancer. About 12 percent of women in the general population will develop breast cancer sometime during their lives. By contrast, it’s estimated that women with BRCA1 gene mutation carry a 55 to 65 percent risk, and those with a BRCA2 mutation carry a 45 percent risk of developing breast cancer by age 70.

BRCA1 and BRCA2 produce tumor suppressing proteins and work with PALB2 to help ensure the stability of the cell’s genetic material. Thus, when these genes are not working properly, cells are more likely to develop genetic alterations that can lead to cancer. These gene mutations can be inherited from a person’s mother or father. Men can also inherit these gene mutations and have an increased risk of developing breast cancer.

Genetic testing for breast cancer is a fairly simple process. Physicians will use a blood or saliva sample to test for abnormal breast cancer genes. Your primary care provider will collect the samples and send them to a lab for testing. During testing, potentially risky genes are separated from the DNA and scanned for abnormalities. A BRCA genetic test will show whether you carry an inherited BRCA gene mutation.

In a family that may carry a BRCA gene mutation, ideally the first family member who has breast cancer will have the gene test first. If they’re not found to have the gene mutation, then other family members won’t benefit from taking the test.

There are no medical risks associated with genetic testing, other than the slight risks associated with having your blood drawn, such as lightheadedness, and temporary bruising or fatigue. However, patients should be aware that genetic testing may have a psychological impact. Depending on the test results, some patients may experience anxiety, anger, sadness or depression, because of uncertainty or negative results related to developing cancer. Those who have an inherited gene mutation may feel a sense of inevitability, like they will definitely get cancer, which is not necessarily the case. Some may face difficult decisions about preventive measures and what to do next.

Because it can be emotionally taxing, the first step in the BRCA gene testing process is to meet with a genetic counselor. A genetic counselor can help you to determine whether it is appropriate for you to receive testing, and will discuss the potential risks, limitations and benefits. The counselor will take a detailed family and medical history, assess your risk of developing cancer, discuss the risks and benefits of genetic testing, and outline your options.

The High Risk Breast Clinic at the James Graham Brown Cancer Center, part of KentuckyOne Health, provides an opportunity for women with a high risk for developing breast cancer to meet with a multidisciplinary team to discuss steps toward reducing that risk. At the clinic, women can make decisions regarding their health through genetic counseling and testing, dietary information, and leadership from a medical oncologist.

“Being aware of how to reduce your risk for a breast cancer diagnosis is very important, and the High Risk Breast Clinic provides women with necessary information and resources to do so,” said Mounika Mandadi, MD, medical oncology, James Graham Brown Cancer Center. “Our goal at the clinic is to raise awareness of breast cancer, decrease risk of diagnosis and provide chemoprevention.”

If you have a family history of breast cancer, it may be time to talk to your primary care provider about BRCA genetic testing. Weigh the risks and rewards of testing, and decide if it is right for you. It could give you the insight that you need to protect yourself from breast cancer. All women older than 40 should receive an annual mammogram, regardless of genetic testing results, as aging women are at risk for developing breast cancer.

For more information about BRCA genetic testing within KentuckyOne Health and the High Risk Breast Clinic at the James Graham Brown Cancer Center, please visit www.kentuckyonehealth.org/high-risk-breast-clinic or call 502.562.HOPE.

For more information about genetic counseling within KentuckyOne Health, please visit www.kentuckyonehealth.org/cancer-genetic-counseling or call 502.210.GENE.