Nebraska nurse removes breasts after free study reveals cancer gene

Erin Thoman, a 34-year-old nurse practitioner in Nebraska, is preparing for a double mastectomy. The procedure is a preventive measure following her discovery that she carries a mutation in the BRCA2 gene.

Thoman had not considered cancer a personal risk because her family history was limited. Her sister, also a nurse, initially joined the Genetic Insights Project at Nebraska Medicine to assist with the research. The sister’s results revealed she carried the BRCA2 mutation. Thoman and her mother were subsequently tested through the same study and both received positive results for the mutation.

"We definitely were all surprised," Thoman said.

The Genetic Insights Project is a free study that screens for three specific gene mutations associated with increased disease risk. Participants provide a blood sample or use an at-home saliva kit that is sent to Helix, a genetic testing company. Approximately one in 75 people screened find they carry a genetic mutation. More than half of those who test positive were previously unaware of their elevated risk.

Thoman met with a breast surgeon at Nebraska Medicine to discuss her options. She has scheduled additional appointments with a surgeon who will remove her ovaries and fallopian tubes. The double mastectomy is expected to reduce her breast cancer risk from approximately 60% to less than 10%.

"I wanted to not have that stress of wondering, is today the day I find out I have cancer?" Thoman said. She views the surgery as a way to stay healthy for her four children. "I’m very fortunate that I have four healthy kids, I no longer need those parts, so let’s just get rid of them," she said.

Dr. Doug Stoller, a cardiologist involved in the study, stated the primary goal is early detection. "The goal here is to detect as early as possible and prevent even the possibility that cancer could ever start," Stoller said. The project has provided genetic results to 15,000 people in the Omaha metro area. Researchers aim to enroll up to 100,000 people in Nebraska and 3 million nationwide.

Thoman is currently encouraging others to sign up for the free screening. "It’s free, it’s super easy and it’s just nice to know if you have that risk," she said.