Karen Brisendine had never considered being tested to see if she had a gene mutation that increased her risk for developing breast cancer or other cancers.
But in December 2019, the Calhoun resident was offered information about genetic testing when she went to AdventHealth Gordon’s Edna Owens Breast Center for a routine mammogram.
“I had never thought about doing genetic testing at all,” Brisendine said. “I don’t know if I would have ever had genetic testing if it hadn’t been available at the breast center.”
While checking in for the mammogram appointment, the then 63-year-old kindergarten teacher was asked to complete a short questionnaire to assess her genetic risk for developing certain types of cancers.
“If they answer, ‘Yes,’ to any of the questions, we offer a short, educational video about genetic testing,” said Lanell Jacobs, director of oncology services. “Then, if they wish, we connect them with a genetic counselor.”
Brisendine answered ‘yes’ to more than one question.
“You usually think of breast cancer as being more on your mother’s side,” she said. “But my father had two sisters who had breast cancer, and I have three cousins who had it.”
After watching the video and speaking with the genetic counselor, who asked her more in-depth questions about her personal and family medical history, Brisendine opted to have her blood drawn and tested to determine whether she had a genetic disposition for developing breast cancer. The test confirmed Brisendine was BRCA2 positive, which means she has a gene abnormality that increases her risk for developing certain cancers.
“I had an 87 percent chance for [developing] breast cancer, and I was a high candidate for ovarian cancer,” she said.
While Brisendine had previously undergone a hysterectomy, she knew before she even met with the oncologist that she would have to undergo a double mastectomy.
“There’s a very, very slight chance you can still develop breast cancer [after a double mastectomy], but it’s almost nil,” she said. “I thought, in a way, I’ve been given a gift because I can prevent something from happening.”
Jacobs said the National Comprehensive Cancer Network recommends women get screened for genetic risk, especially if they have a close relative who had breast cancer or if they’ve already had their cancer diagnosis.
“Now, we know so much more about how genetics play into the development of cancers,” she said. “If you know that you have an increased risk, [genetic testing] then helps you change your medical management…Genetic testing doesn’t stop the cancer, but it empowers us to be able to potentially catch it earlier, and we want to catch it early so we can treat it and cure it.”
Brisendine scheduled her mastectomy for June 2020 so she could finish the school year, but there was another matter she had to tend to first – telling her 26-year-old daughter about the test results.
“The hardest part of the whole process was having to tell her she needed to be tested,” Brisendine said. “I even went up to Charlotte to tell her face-to-face. It was emotional for me.”
Brisendine’s daughter, Leah Brisendine, a library aide at the Charlotte Mecklenburg Library and graduate student at North Carolina Central University, took the news in stride, however, and traveled back to Calhoun to get tested at the breast center about a month after her mother’s surgery.
The results showed Leah was BRCA2 positive too.
“When I first heard I had it, I was fine with it,” Leah said.
But as the news settled, Leah grew anxious about what to do next.
“All I had was what the genetic counselor had told me — this is what it could entail if you test positive for the mutation and these are the cancers you have increased risk for,” she said.
She reached out to the breast center’s nurse navigator, Christine Bond, for additional information, and Bond put her in touch with specialists in Charlotte to help her set up a health care plan.
“Starting at age 30, I will have annual mammograms, and starting this year, I will have an annual breast MRI, and once I turn 30, they’ll alternate,” Leah said.
Because people with the BRCA2 abnormality also have a heightened risk for developing melanoma, colorectal and pancreatic cancers, both mother and daughter also now regularly meet with other specialists for cancer screenings.
“I went to the dermatologist once a year before, but now they can monitor things to make sure we’re ahead of the game,” Brisendine said. “Without the testing, you wouldn’t necessarily be doing that or you might not be looking for things in the same way they are.”
“These are doctors I didn’t think I’d have to worry about for another 15 to 20 years that I’m now meeting with in my mid-20s,” Leah added. “Having my mom as a support system has been very good, and knowing that she and I can do it together is a unique mother-daughter bonding experience that few women will have.”
She said the testing gave her new information she can now use to plan her future.
“To me, it’s better to know than to be ignorant,” she said. “Knowledge is power, and, for me at such a young age and having this diagnosis, I have more time to plan out my options and what kind of medical exams I am going to need to have and family planning…By age 40, I’ll have a double mastectomy and full hysterectomy. Most 20-somethings aren’t discussing that. But that puts me in a unique category of having that knowledge, but also having the time to plan it out.”
Since the breast center began offering the testing in November 2019, Jacobs said more than 4,600 patients have been screened there. Just under one-third of those screened were found to be at high risk, she said.
“Of that number, 230 patients had the genetic testing done, and of those 230 patients, 14 had positive mutations,” Jacobs said. “Of the patients that we have had tested at our facility, 33 percent had a change in medical management to help them stay well.”
Following her mastectomy, Brisendine started the reconstructive surgery process but then changed her mind about completing it.
“I just didn’t want to have any more surgeries,” she said. “I just felt like that was right for me, and I’m fine the way I am. I’m thankful to be alive, and I’m thankful I had good people that were taking care of me…I’m ready to get on with life.”
Leah commended AdventHealth for bringing genetic testing and affiliated support services to the region.
“The fact that they’ve invested in that kind of resource in the community is more valuable than I think people realize,” she said. “You’re not guaranteed tomorrow, but you can extend your tomorrows if you take the necessary steps available to you to find out more about your own health.”
Her mother encouraged other women, as well as men, to consider getting tested.
“I really feel like this has saved my life, and it’s going to save Leah’s life too,” Brisendine said. “Was I thrilled with the results? No, but I see now that good came out of it, and I hope that other people might think about it, too, because we just want to beat cancer and this is one way we can do it with genetic testing.”
For more information about genetic testing at the Edna Owens Breast Center, please call 706-602-4518.