How Breast Cancer Gene Testing Saved One Women's Life - Cone Health

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Published on October 16, 2017

How Breast Cancer Gene Testing Saved One Women's Life

Knowledge really is power when it comes to your health.

Lori Willis 800w

“I think it was a God thing for sure,” says Lori Willis, describing how she came to take a genetic test. But it was a test that would change her life—and potentially the lives of those around her.

Willis had to reschedule her annual gynecological appointment and this time saw a different doctor. “I was really surprised at how much time she spent looking over my family history,” says Willis. Looking back, Willis shouldn’t have been surprised at all. Her grandfather had stomach cancer. Her father had colon cancer. She has what she calls “an incredibly strong history of cancer on my dad’s side.” Flags hadn’t gone up in previous visits because there were different types of cancer in the family. Still, her doctor asked her to consider a genetic test.

Karen Powell

Karen Powell, MS, CGC
Genetic Counselor

Willis met with Karen Powell, a genetic counselor at Cone Health Cancer Center at Wesley Long Hospital. “Genetic testing is a rapidly growing tool for doctors and patients,” says Powell. “Researchers are connecting more and more of the dots between genetic mutations, and diseases and conditions. As they do that, we can use genetic testing to help people better understand their risk for developing disease and even guide their treatment.”

What is Breast Cancer Gene Testing? 

Genetic testing uses blood or saliva, which contains your DNA. DNA is the chemical instructions that make you who you are. Sometimes, those instructions change or mutate.

Some of those mutations are meaningful and can cause disease. “It can get very complicated,” says Powell. “Just because you have a mutation doesn’t mean you are destined to get a particular illness. It usually only increases your odds of getting a particular illness. So it is very important to have someone who can explain your results, such as a certified genetic counselor, and answer your questions,” Powell adds.

Positive for Chek2 Mutation

While Willis admits it was a bit scary, it didn’t freak her out when Powell told her she has a mutation in a gene called CHEK2. With her family history, she expected something. CHEK2 mutations are primarily linked to breast cancer and colon cancer. Knowledge is power. “It definitely was. Absolutely,” Willis says. And she believes the knowledge saved her life.

Armed with the knowledge of a CHEK2 mutation, doctors asked for a breast MRI, despite nothing showing up on her mammogram and breast ultrasound. And this time they found a very small tumor. A biopsy confirmed cancer. “I never would have had the additional testing if I didn’t know about CHEK2,” Willis says.

Willis in Cancer Center Art Class

A Recommendation for Surgery

“I love that the cancer team looks at your case and comes to you with options,” says Willis. Because of her genetic testing and family history of cancer, Willis’ medical team at Cone Health Cancer Center recommended a mastectomy. A woman with a CHEK2 mutation is more likely to develop a second breast cancer than a woman without the mutation. “My mind went straight to ‘get them both off.’ I went radical because I didn’t want to go through this again. The doctors understood,” says Willis.

After surgery, Willis is “doing great, feeling great and loving life.” Willis and her family even tell her story on the website of a genetic testing company. She’s asked her four brothers, sister and two children to consider genetic testing. Health insurance may cover genetic testing based on your personal and/or family history of cancer. Technology has improved to the point where you can find tests for just a few hundred dollars. Some companies even discount prices during breast cancer awareness month.

Willis gets more frequent screening for colon cancer due to her increased risk, but isn’t worried. “Knowledge is power,” says Willis. “Now I know. I am on top of my health because of genetic testing.”

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