Published on November 18, 2024

Understanding Your Genetic Risk for Breast Cancer

Genetic counseling and testing can help you understand your genetic risk for cancer. If you’re concerned about your risk, a genetic test can provide you with information on how to prevent cancer or catch it early.

As a mom, wife, and daughter, Caisey Heaton wants to make sure she is around for all of life’s special moments.

With a history of cancer in her family, she wanted to know her genetic risk.

“It started with my great aunt on my maternal side and she was diagnosed at 24 years old with breast cancer and passed away at 24 years old,” said Avera patient, Caisey Heaton. “Then my maternal grandfather at 68 years old was diagnosed with prostate cancer and passed away at 70, so then my mother, when I was 15, she decided to do the genetic testing, it showed a mutation in the BRCA 2 gene.”

Living in a different state at the time, when she was only 19 years old, she decided to do genetic counseling and testing.

“We went to the lab and had lab work done, non-invasive, easy, a few weeks later I got a phone call from the genetic counselor and she said I needed to come in,” said Heaton. “She sat down with me and said ‘I’m so sorry but you are positive for the BRCA 2 gene mutation.'”

“BRCA 1 and BRCA 2 are the two most common genes related to an inherited risk for breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer, they’re very common, about 1 in 400 people have a mutation,” said lead genetic counselor at Avera, Kayla York. “If they test positive for either BRCA 1 or BRCA 2, it can impact what surgery they might want to do, there are certain medications that can be used with those genes, it might help them with future preventative options.”

Now age 32 and living in Sioux Falls, Caisey decided to take steps to help lower her risk of cancer. She made an appointment at the Avera Breast Center.

“Her lifetime risk was very significant and so she opted for risk reduction,” said breast surgeon at Avera Medical Group Comprehensive Breast Clinic, Tricia Merrigan, MD, FACS.

Caisey had a prophylactic double mastectomy with reconstruction.

“It’s such peace of mind, I went from 87% chance of getting cancer to a 7%,” said Heaton.

“I think whether a patient pursues risk reduction surgery is very patient dependent, generally patients have to a pretty significant risk of developing breast cancer to really consider risk reduction surgery because it is a big decision to go onto mastectomy with or without reconstruction but it’s really a conversation that I think high risk patients can have with their surgeon to talk through is this an option for them,” said Dr. Merrigan.

Caisey hopes sharing her story can encourage others to understand their genetic risk. And she now feels more confident in her future.

“Now it’s like a new chapter, it’s exciting, that weight, is no longer on me, and now I can just watch my babies and hopefully watch their babies grow,” said Heaton.

Dr. Merrigan recommends talking with your physician if you have questions about your own risk.