TMC PULSE

t m c » p u l s e | m ay 2 0 1 7 9 Problems for Previvors Testing positive for a BRCA mutation means surveillance or surgery N atalie Bossenberger answered a phone call from her parents in 2012. In a matter of minutes, the way she viewed her health—and her future— changed profoundly. Her father told her he had recently tested positive for a BRCA genetic mutation. With two aunts who had been diagnosed with breast cancer, Bossenberger knew this was part of her family's health history. Now, at age 30, she realized a predisposition for breast cancer might be something she carried in her very own genes. "My parents said he got tested for me and my brother, so we would have that information and do whatever we chose to do," Bossenberger said. "I chose to go ahead and get tested." Within a week of giving a saliva sample to a Baylor College of Medicine lab, Bossenberger had the results: posi- tive for a BRCA1 mutation. BRCA genes gained international attention in recent years when actress Angelina Jolie tested positive for a BRCA1 mutation and elected to have a double mastectomy. The discovery of the link between BRCA mutations and breast cancer, however, happened more than 20 years ago. Mark Skolnick, Ph.D., led a team of scientists who identified the BRCA1 gene amid a fierce competi- tion dubbed the "race for cancer gene" by The New York Times. The BRCA1 gene and BRCA2, iden- tified in the United Kingdom two years later, are tumor suppressor genes. They help repair damage to DNA. A BRCA1 or BRCA2 mutation can result in DNA damage remaining unrepaired, which in turn increases the possibility of cancer developing. The acronym BRCA is derived from BReast CAncer. The genes' link to breast cancer is most significant: about 55 to 65 percent of women with a BRCA1 mutation and 45 percent of women with a BRCA2 mutation will develop breast cancer by age 70. But since their discovery, BRCA mutations have been linked to other forms of cancer, including ovarian after receiving her positive result, she didn't want to be Nurse Natalie. She wanted to be a typical patient, a young woman who just learned her likelihood of being diagnosed with cancer had skyrocketed. "I went into the appointment asking them to talk to me like I'm not a medical person. I wanted to be talked to at that basic level," Bossenberger said. "They cancer, prostate cancer, melanoma and pancreatic cancer. The positive BRCA1 result put Natalie Bossenberger in a growing category known as "previvors"—peo- ple who are predisposed to a certain disease they do not yet have. As a nurse, Bossenberger is familiar with medical jargon. But during her meeting with the genetic counselor give you such a large amount of infor- mation and statistics. Every year I have them repeat it to me again because it's so overwhelming." Prophylactic mastectomies. Removing the ovaries and fallopian tubes. Watching and waiting. Extra tests, new specialists. Her head swimming with options, Bossenberger decided to "watch and wait." Every six months, she sees either Julie Rani Nangia, M.D., director of the Breast Cancer Prevention and High Risk Clinic at Baylor College of Medicine, or Matthew Anderson, M.D., Ph.D., assistant professor of obstetrics and gynecology at Baylor. She gets an annual mammogram, breast MRI and pelvic ultrasound to check for breast and ovarian abnormalities. Anderson always orders a CA 125 blood test, as elevated CA 125 levels can indicate various forms of cancer. But even after years of watching and waiting, Bossenberger is constantly reevaluating. "Every time I go see a doctor, I'm always rethinking my decision. Should I do the mastectomy? Will I regret it? What if they find something this time?" she said. "The good thing about the breast MRIs is that the rate of finding cancer extremely early is high. I have that cushion in the back of my mind that even if they do find something, the chances are that it's going to be early and treatable." (continued) B y S h e a C o n n e l l y Natalie Bossenberger, a staff nurse at the Women's Assessment Center, Texas Children's Pavilion for Women, outside Baylor Clinic, where she sees Julie Rani Nangia, M.D., to monitor for signs of breast cancer. Every time I go see a doctor, I'm always rethinking my decision. Should I do the mastec- tomy? Will I regret it? What if they find some- thing this time? — NATALIE BOSSENBERGER

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