In 1990, the first gene associated with breast cancer was discovered, named BRCA1 (breast cancer 1), followed a few years later by the discovery of genes related to ovarian and uterine cancer, as well as melanoma, which came to be named BRCA2. Both are tumor suppressor genes that hold down the job of keeping cell growth and cell death in check. The discovery showed that when someone has a mutated BRCA1 or BRCA2 gene, their risk for developing certain types of cancer grew considerably.
The discovery of these genes has ultimately enabled scientists and doctors to arm patients with genetic information that can help them make crucial decisions to mitigate risks, says Rona Remstein, director of oncology services at Capital Health. She coordinates the cancer genetics program, which she says has evolved considerably in recent years. “We’ve learned so much more about these genetic mutations. They are the leading cause of inherited breast cancer. Only 10 percent is inherited, but these two genes are the inherited offenders.”
Remstein has been involved with Capital Health’s cancer genetics program since its inception, but she says societal developments over the last 2 years have helped make this kind of testing part of the standard of care. First, the public is becoming much more aware of BRCA1/2 testing and genetic testing on the whole. “We can thank actress Angelina Jolie for that,” she says, alluding to her preventive double mastectomy last spring after testing positive for BRCA1, fearing the eventual development of breast cancer, the disease that killed her mother.
The second development happened about a month later, when the U.S. Supreme Court barred gene patents, which opened the floodgates for companies to offer genetic testing and spurred further progress and improvements in the arena. “Ten years ago it took 6 weeks to get a result,” Remstein says. “Now it’s down to 2. That time is crucial because people can use that information to make surgical or medical decisions.”
While gaining insight into your body’s genetic fingerprints can be alarming and scary, Remstein says Capital Health’s program is designed to make the process as easy and insightful for people as possible. “We construct a genetic pedigree that diagrams a schematic with your cancer history. Then we do a bit of a science class with cancer genetics and the inheritance pattern. We explain briefly why testing would benefit you,” Remstein says. “We believe knowledge is power, if your are able to handle it.
“You want to prevent cancer or find it as early as possible. If you are BRCA1 or 2, you don’t have to wait for destiny to take hold. You can act if you choose.”