BRCA2 Mutation: Free Genetic Test Saves Nebraska Nurse’s Life | Cancer Risk Detection
OMAHA, Neb. — A Nebraska nurse practitioner’s decision to participate in a free genetic research study has led to the early detection of a BRCA2 gene mutation, potentially saving her life. Erin Thoman, a 34-year-old mother of four, discovered she carried the mutation despite having limited family history of cancer.
The discovery began when Thoman’s sister, also a nurse, enrolled in the Genetic Insights Project at Nebraska Medicine. “She didn’t really think much of it and so offered to do it to kind of help out with the study,” Thoman explained. Following her sister’s positive result, Thoman and her mother were also tested through the same study and both were found to carry the BRCA2 mutation. “We definitely were all surprised,” Thoman said.
Understanding BRCA Genes and Cancer Risk
BRCA1 and BRCA2 are human genes that produce proteins responsible for repairing damaged DNA. According to Johns Hopkins Medicine, these genes play a crucial role in maintaining the health of cells and preventing cancerous changes. When these genes are functioning correctly, they act as tumor suppressors. However, when a mutation damages either BRCA gene, an individual’s risk of developing certain cancers increases significantly.
Inherited mutations in BRCA genes are well-established risk factors for breast and ovarian cancer in women, and also increase the risk of breast and prostate cancer in men. The presence of a mutation doesn’t guarantee cancer will develop, but it substantially elevates the likelihood. Approximately 1 in 400 Americans have an inherited BRCA mutation, as noted by Renown Health.
Proactive Steps and Preventive Surgery
For Thoman, receiving the diagnosis prompted a clear course of action. “I wanted to not have that stress of wondering, is today the day I find out I have cancer?” she stated. She has already consulted with a breast surgeon at Nebraska Medicine and has scheduled appointments with a surgeon to discuss the removal of her ovaries and fallopian tubes.
A double mastectomy is planned, which is expected to reduce her breast cancer risk from approximately 60% to less than 10%. Thoman expressed a sense of empowerment in her decision. “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. “Honestly, I feel like this is a blessing. I have the opportunity to prevent it and be around a long time to watch my kids grow up.”
The Genetic Insights Project: Early Detection and Broad Reach
Thoman is one of 15,000 individuals in the Omaha metropolitan area who have received genetic results through the free study. The Genetic Insights Project aims to enroll up to 100,000 people in Nebraska and ultimately 3 million people nationwide. The project’s goal is to identify genetic predispositions to various diseases, including cancer, at an early stage.
Participants contribute either a blood sample or a saliva sample, which is then analyzed by Helix, a genetic testing company. The screening focuses on three specific gene mutations known to increase the risk of several diseases. Dr. Doug Stoller, a cardiologist involved in the study, emphasized the importance of early detection. “The goal here is to detect as early as possible and prevent even the possibility that cancer could ever start,” he said.
The study has revealed that approximately one in 75 people screened carry a genetic mutation. Importantly, more than half of those who test positive were unaware of their increased risk prior to participating in the study. “Many participants that find that they carry one of these variants actually are found to have very early-stage disease already by the time that they actually get their screening done,” Dr. Stoller noted.
Encouraging Participation and Raising Awareness
Inspired by her own experience, Thoman is now actively encouraging others to participate in the Genetic Insights Project. “It’s free, it’s super easy and it’s just nice to know if you have that risk,” she said. The study offers a valuable opportunity for individuals to gain insight into their genetic predispositions and take proactive steps to protect their health.
The Genetic Insights Project highlights the growing role of genetic screening in preventative healthcare. While not everyone will carry a high-risk mutation, identifying those who do allows for personalized risk management strategies, including increased surveillance, lifestyle modifications, and, in some cases, preventative surgery. This approach underscores the potential for genetic information to empower individuals to take control of their health and well-being.