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What if a doctor could provide a look into your medical future? If they could see if you have an increased risk of getting cancer? What would you do with that information? You would probably use it to your benefit, wouldn’t you? Unfortunately, there is no crystal ball that can clearly see the future, but the Breast Cancer Family Registry (BCFR) is providing hope to many.
The BCFR is a large study of families who are at increased risk of breast cancer and ovarian cancer based on family history or genetic mutations. Huntsman Cancer Institute (HCI) is one of six sites that take part in the registry. The BCFR combines health information and biological samples from 30,000 women and men from nearly 12,000 families from the United States, Canada, and Australia. Breast cancer scientists around the world use the information in the registry to research new ways to prevent, diagnose, and treat cancer.
Through testing, people discover whether they carry BRCA gene mutations, which increase the risk of getting breast cancer. According to the National Cancer Institute, 55–72% of women who inherit a harmful BRCA1 variant and 45–69% of women who inherit a harmful BRCA2 variant will develop breast cancer.
"My grandmother had cancer—breast, lung, and skin—and received care at HCI," Elise Grant says. "HCI discovered she had BRCA1 when I was 10 or 11. Almost every member of my family has it—probably 20 to 25 people—but my tests were negative. I know how this disease can create worry and have a negative impact on a person or family."
"I was a teenager when I heard about the study," Chrissy Walker says. "When I was 24 and had my first baby, my mom was diagnosed with breast cancer and we learned my dad’s side had the BRCA mutation. She did not have the mutation, but it hit close to home. My brother and I did not think we would have the mutation when we got tested, but we do." The mutation was passed down from her father.
Testing for genetic mutations is rather simple. The Family Cancer Assessment Clinic at HCI provides guidance and testing for both men and women.
Both women have joined the new cohort of the registry, which is now recruiting. In this new cohort, women ages 18–39 have the option to come into the clinic and provide blood, saliva, or urine samples. They can also choose to have breast optical spectroscopy done at the clinic, which is a laser light that measures breast characteristics. Participants must also fill out a few periodic online surveys. The surveys include lifestyle, health, and history questions completed through online questionnaires.
"This whole process has been great," Elise says. "It was a lot easier than I thought it would be—very fast and efficient. The registry is convenient and easy to access. They take privacy very seriously. No one knows your name, which gives me peace of mind."
For many family members that participate in the registry, peace of mind also comes from a sense of empowerment and knowing that they are contributing to this important research.
"I had a lot of mixed feelings in the beginning," Chrissy adds. "I had to change my perspective. I realized how amazing it was to get a look at our genetics and have some warning. Knowing about the mutation gives me a sense of control over my life, rather than being a passenger."
The registry provides critical information for people with BRCA mutations and also gives hope to future generations.
"You read the statistics and know that each of those numbers is a person who impacts others," Elise says. "It’s the human cost of disease. Each death leaves a hole in a family. When I became aware of the opportunity to be a part of research myself, I was so excited to pay it forward. My grandmother was a survivor and received excellent care at HCI. I am grateful for the work they are doing to better understand breast cancer and improve the lives of future patients and families."
"Being part of the testing creates a touchpoint," Chrissy says, "to know someone is out there looking out for you. The intelligent, qualified people at HCI are spending their time and energy finding a cure. It’s not about me. It’s about my three daughters and son—the future."