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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 乳癌家庭登记处 (BCFR) is providing hope to many.
的 BCFR is a large study of families who are at increased risk of 乳腺癌 和 卵巢癌 based on family history or genetic 突变s. 亨茨曼癌症研究所 (HCI) is one of six sites that take part in the registry. 的 BCFR combines health information 和 biological samples from 30,000 women 和 men from nearly 12,000 families from the United States, 加拿大, 和澳大利亚. Breast cancer scientists around the world use the information in the registry to research new ways to prevent, 诊断, 治疗癌症.
Through testing, people discover whether they carry BRCA gene 突变s, which increase the risk of getting 乳腺癌. According to the National Cancer Institute, 55–72% of women who inherit a harmful 乳腺癌易感基因1 variant 和 45–69% of women who inherit a harmful BRCA2 variant will develop 乳腺癌.
"My gr和mother had cancer—breast, lung, 和 skin—和 received care at HCI," Elise Grant says. HCI发现她有 乳腺癌易感基因1 当我10岁或11岁的时候. 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 和 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 和 had my first baby, my mom was 诊断d with 乳腺癌 和 we learned my dad’s side had the BRCA 突变. She did not have the 突变, but it hit close to home. My brother 和 I did not think we would have the 突变 when we got tested, but we do." 的 突变 was passed down from her father.
Testing for genetic 突变s is rather simple. 的 家庭 Cancer Assessment Clinic at HCI provides guidance 和 testing for both men 和 women.
Both women have joined the new cohort of the registry, which is now recruiting. 在这个新的队列中, women ages 18–39 have the option to come into the clinic 和 provide blood, 唾液, 或者尿液样本. 的y 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. 的 surveys include lifestyle, health, 和 history questions completed through online questionnaires.
"This whole process has been great,伊莉斯说. "It was a lot easier than I thought it would be—very fast 和 efficient. 的 registry is convenient 和 easy to access. 的y 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 和 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 和 have some warning. Knowing about the 突变 gives me a sense of control over my life, rather than being a passenger."
的 registry provides critical information for people with BRCA 突变s 和 also gives hope to future generations.
"You read the statistics 和 know that each of those numbers is a person who impacts others,伊莉斯说. "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 gr和mother was a survivor 和 received excellent care at HCI. I am grateful for the work they are doing to better underst和 乳腺癌 和 improve the lives of future patients 和 families."
"Being part of the testing creates a touchpoint,Chrissy说, "to know someone is out there looking out for you. 的 intelligent, qualified people at HCI are spending their time 和 energy finding a cure. 这不是我的事. It’s about my three daughters 和 son—the future."