Sara learned she had a rare form of gastrointestinal cancer at the age of 37. She told her family and just a few weeks later, her brother had a check-up. His doctors found he had stage 4 colon cancer. Surprised and shaken by the coinciding diagnoses, Sara and her family turned to Samantha Greenberg, a genetic counselor at Huntsman Cancer Institute for answers.
According to Greenberg, “Family history is definitely the biggest tool that we have in the genetics world. Learning about other members of your family who were diagnosed with cancer can really impact your own health.”
In addition to her brother’s diagnosis, Sara’s family history included an uncle who had colon cancer and a grandmother who died of cancer. When Greenberg heard about these cancers in Sara’s family, she made an educated guess that genetic testing later confirmed: Sara’s cancer was a result of Lynch Syndrome.
People with this syndrome have a higher than normal chance of developing colorectal cancer, endometrial cancer, and various other aggressive cancers, often at a young age. A gene mutation, passed through families over the generations, causes the mutation.
Researchers are learning more and more about specific genetic mutations with increased risk for specific cancers. When an individual has a family history of cancer, like colon or breast cancer, or melanoma, clinicians can run tests to find out whether that person carries the relevant genetic mutation. Doctors recommend more intensive cancer screening for those who have the mutation. This can help family members who have the mutation prevent cancers or find cancer early, before it has a chance to grow and spread.
Sara was relieved by her diagnosis. Knowing what caused her cancer allowed her to arm her two boys and other family members with that information. If they get their genetic testing done, Sara says she hopes they “won’t have to go through surgeries or chemotherapy” but will instead be able to “actively participate in their health at a younger age.”
Greenberg encourages Sara’s instinct to spread the word to other family members about their risk. There’s still a stigma associated with talking about cancer. Some people feel guilt or shame, as though the risk posed to loved ones is their own fault. This could not be further from the truth.
“These changes that happened in our DNA happened many generations ago,” says Greenberg. “Now we finally have the technology and the knowledge to do something about it.” She realizes that families don’t congregate very often and that when they do, it’s often in situations where discussing cancer would be inappropriate—at funerals and weddings. That’s why the holidays present an important opportunity to talk openly, discover patterns of cancer types and ages at diagnosis, and identify shared risks.
Sara’s experience has encouraged other members of her family to be more proactive in taking care of themselves. With the power of genetic testing and the advances in cancer screening, they have the tools to ensure they’ll be around to get together for many holidays to come.
Huntsman Cancer Institute (HCI) is a National Cancer Institute (NCI)-Designated Comprehensive Cancer Center, which means it meets the highest standards for cancer research and receives support for its scientific endeavors. HCI is located on the campus of the University of Utah in Salt Lake City and is a part of the University of Utah Health Care system. HCI treats patients with all forms of cancer and operates several high-risk clinics that focus on melanoma and breast, colon, and pancreas cancers, among others. HCI also provides academic and clinical training for future physicians and researchers. For more information about HCI, please visit www.huntsmancancer.org.