Should you get tested for the breast cancer gene?
For one local woman, finding out that she has the BRCA1 gene mutation allowed her to gain some control over her future
A local woman's story of testing positive for the BRCA1 gene mutation.
Heather Baker, 31, of Washington County, has an extensive family history of breast cancer. Her mother passed away during her second bout of the disease at age 38, and her grandmother died when she was only 34. Barker also had several aunts on her mother’s side of the family who all passed away from breast cancer, and she had a cousin who was diagnosed when she was in her 20s. She knew she had to get tested to determine her own risk, but in her own time.
“I had genetic testing for breast cancer when I was just 24,” Baker says. “I had been married to my husband for four years at the time and had two children, ages 3 and 1. I knew about genetic testing for gene mutations because my mom’s sister tested positive, but I wanted to wait until I was ready to handle the results.”
That time came in 2010, right after Thanksgiving, when Baker had been experiencing some issues with cysts and asked her gynecologist if she could be tested. Aware of her family history with breast cancer, her gynecologist agreed.
“I knew that if my test came back positive for the gene mutations (for breast cancer) that I would take extreme measures for prevention because I saw firsthand everything that my mom went through with chemotherapy, radiation, alternative therapies, and even clinical trials at UPMC to try and beat the disease,” Baker says. “Sadly, none of them worked, and I watched breast cancer strip my fighting mom layer by layer until nothing was left but sadness, pain and her last breath.”
Baker explains that the test consisted of a quick and easy blood test and her health insurance covered it because of her family history. Her gynecologist said that the test would be sent to be analyzed and would take a few weeks for the results to be processed. In the meantime, Baker says that although she knew there was a chance it would come back positive, she prayed hard for the negative.
Unfortunately, that was not the case.
“I remember the day I found out my results were positive for the BRCA1 gene mutation,” she says. “I felt crushed inside, like it was an omen on my life. I knew I was willing to take extreme measure to make sure that this gene mutation didn’t ruin my life.”
Baker was referred to UPMC Magee-Womens Hospital, where she met with a genetic counselor who gave her information about her options that included ultrasounds of the breasts and ovaries every six months; a medication regimen consisting of Tamoxifen or Raloxifene, drugs known to reduce the risk of breast cancer; or a prophylactic bilateral mastectomy, a preventative surgery that removes the breast tissue and is replaced with either implants or stomach tissue.
After much conversation with her husband, Baker decided that surgery was the best option for her and her family.
“It was a difficult decision,” she remembers. “No woman ever dreams of having pieces of her body vanish that she once thought were beautiful. The decision was a permanent and very emotional one, but my breast cancer development risk went from 80 percent to 5 percent. Everything I went through emotionally and physically was worth it for peace of mind and to know that I did this not only for me, but for my family and my three beautiful children. I wanted to make sure I got to see them grow up and eventually have children of their own. I have learned that beauty on the outside isn’t nearly as important as beauty on the inside, and I have so much admiration for the ladies who fight breast cancer every day.”
About 1 in 300 people carry the BRCA1 gene mutation, and 1 in 800 carry the BRCA2 gene mutation, according to Nicole Garcher, DO, Ob/GYN, Washington Physicians Group (who did not treat Baker).
“There are a few types of cancers that run in families that are, therefore, referred to as ‘hereditary,’” Garcher notes. “These hereditary cancers have been linked to specific genes that can be passed from parents to children. Breast cancer and ovarian cancer are examples of hereditary cancer, and are known to be associated with specific gene mutations for which we can test. The two most common gene mutations are BRCA1 and BRCA2. So, inheriting one of these gene mutations increases the risk of getting breast cancer, ovarian cancer, or both.”
Garcher explains that the genetic testing process is quite simple.
“The patient will meet with the healthcare provider and possibly a genetic counselor, and using a blood or saliva sample, the lab can test the patient’s DNA for the gene mutation. It usually takes about one month to get the results, and although a positive test confirms a gene mutation, which increases the patient’s risk of developing cancer, it does not mean they will get cancer.”
According to Garcher, it is important that the patient discuss the results with her healthcare provider and plan a strategy to decrease the cancer risk. Options for reducing this risk include screening tests, medications and surgery.
“Genetic testing can save lives,” Dr. Garcher says. “In addition, having the gene mutation means that there is a 50 percent chance of passing it onto children, which is important to keep in mind. It is a good idea to share this information with family members so others can be tested, as well.”
Baker also turned to Facebook to seek support from groups formed for women with the BRCA mutations. In addition, she sought information from Force (www.facingyourrisk.org), a website that aims to improve the lives of patients and families affected by hereditary cancer and Bright Pink (www.brightpink.org), a website designed to increase awareness of breast cancer and ovarian cancer.
“I also have to give a shout out to the Young Survival Coalition, who was very supportive of my decision for prevention,” she says. “I connected with a lot of survivors on there who were there for me during my journey.”
The Young Survival Coalition can be found at youngsurvival.org.