Rachel learned early that cancer played a prominent, and deadly, role in her family. Her grandfather passed away when she was four years old, a result of what family at that time—roughly 70 years ago—called stomach cancer, but which Rachel now believes was likely colon cancer. Rachel’s mother had numerous cancers, and her older sister died at age 43 from colon cancer. Rachel herself has survived uterine cancer, two diagnoses of colon cancer, and, most recently, breast cancer. One of her three children and her nephew have also survived colon cancer.
With this high incidence of cancer in her immediate family, Rachel says she assumed there was a genetic link, but she had not considered the benefit of undergoing genetic testing until her younger sister, who lives in San Francisco, encouraged her to contact UCSF and to be tested. The results revealed that Rachel did in fact have a mutation in a gene that causes Lynch Syndrome. This gene mutation was responsible for the cancers in her family, and this gene mutation put her and her family members at increased risk of developing certain types of cancer.
Rachel’s decision to be tested led many of her family members to follow through with testing as well, and the results have led to increased screening practices and preventive care. “It is to our advantage to have genetic counseling and genetic testing because I think you do screen more,” Rachel says. “I go for every test I can possibly go for—anything I can do.” And, she says, the information has made the family more aware of the connections that may exist between colon cancer and other types of cancer. “Genetic testing makes you more aware of your overall health,” she says. “You know what to look for, and your doctors are more aware.”
Rachel’s experience has led her to encourage friends and family to be aware of their genetic history, as well. “Whenever I hear there’s a history of cancer, I encourage people to talk to a genetics expert; they may need to be tested,” she says. “If you’re aware, you really know to stay on top of it.”