Sisters Tara, Jenny and Shannon watched their mother and two aunts battle breast cancer at the same time, and ultimately lost their mother to the disease. They put off getting tested for the BRCA mutation for six years, living in anxiety and denial about their potential health situation. “We all have BRCA genes,” explains surgical breast specialist Dr. Kristi Funk. “When they function correctly, they’re kind of like babysitters for your DNA, and when a breast or ovarian cell mutates, BRCA will swoop in and either fix it or throw it away.” When BRCA is broken, however, those mutated cells can stay and multiply, leading to cancer. Youngest sister Shannon says she feels like she and her sisters are a “walking time bomb.” The three sisters decide to get tested and join The Doctors to find out their fate.
"Breast cancer isn't, like, disfigurement, or losing your sexuality or anything like that," Shannon explains. "It's death. For us ... it's death, because that's what we know."
According to the National Cancer Institute, about 12 percent of women will develop breast cancer sometime in their lives. The risk of breast cancer quintuples to 60 percent for women with the BRCA mutation. The BRCA genetic test looks at the sequence of the BRCA 1 and/or BRCA 2 genes for changes or mutations that could indicate a risk of developing cancer. The test can be done on either a blood or saliva sample and takes about 3 weeks to process for results.
The mutation affects both men and women, leaving carriers with the difficult decision between surveillance or removing the organs at risk . While middle sister Jenny says she's not sure whether she'd undergo surgery, Shannon says that if she tests positive for the BRCA gene mutation, she would get a mastectomy. "If I could take my risk from 87 percent down to one percent, it would be so freeing," she says.
ER physician Dr. Travis Stork reveals the sisters' test results, and each sister is relieved to find out that she tested negative for the mutation. Dr. Funk emphasizes that while the negative test results free the sisters from astronomical cancer risk, they're still not completely in the clear. "It's imperative that you still follow a path of high-risk surveillance, and I would lay out the same one I give BRCA carriers for you, which would involve mammograms, ultrasound, MRI, doctor's breast exams, your own self breast exam ... sort of spaced throughout the year, so that your breasts are always being interrogated to make sure that, heaven forbid a cancer does develop, the hope is we find it at a curable state," she says.
Should You Get Tested?
Dr. Funk explains that if you or two of your family members has had breast cancer or ovarian cancer, you should get tested for the BRCA gene mutation. You only need a history of one family member with breast or ovarian cancer if you happen to be Ashkenazi Jewish. "I've had many women be terrified to find out the results," she says. "I've never had one say, 'Wow, I wish I didn't know I had this gene.'"