TMC PULSE

t m c » p u l s e | m ay 2 0 1 7 10 M U T A T E D B R C A 1 55-65% M U T A T E D B R C A 2 45% N O R M A L B R C A 12% C H A N C E S of D E V E L O P I N G B R E A S T C A N C E R by A G E 70 Specific inherited mutations in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancers. Testing for these mutations is usually recommended in women without breast cancer only when the person's individual or family history suggests the possible presence of a harmful mutation in the BRCA1 or BRCA2. Testing is often recommended in younger women newly diagnosed with breast cancer because it can influence treatment decisions and have implications for their family members. Double-edged sword Once a mutation in a BRCA gene is identified, deciding how to proceed is complicated by many factors. One of the most significant is family history. "Some women have a lot of breast cancer in their families and have seen a lot of family members die," Nangia said, recalling a woman who saw a number of relatives develop the cancer at a young age, between 25 and 35. "She decided to have prophylactic mastectomies at 25 because she just wanted to live her life and not worry about it." On the other hand, if a patient's relatives typically develop cancer later in life, or tend to have cancer that is highly treatable, she may opt for a more conservative approach. Nangia said patients who still want to have children and would like to breastfeed also may choose to watch and wait and plan for surgery further down the road. Many patients have their ovaries and fallo- pian tubes removed around age 40 to 45, she said. "There's an intrinsic risk in just having a BRCA mutation, but not all BRCAs are the same," Nangia said. "That's where having the correct knowledge to make these decisions is helpful." Judy Calabria's BRCA path began similarly to Bossenberger's—with a tip from a relative. She decided to get start to think, 'Oh, my gosh, I'm going to be that mid-30-year-old woman with breast cancer. I'll never be able to have children.' It snowballs into a terrible conclusion that's probably not going to happen. But I'm happy that I know, because I'm more aware of subtle changes to my body and would hope- fully catch it in time." To help cope with the overwhelm- ing decisions and emotions connected to BRCA mutations, many choose to attend meetings with Facing Our Risk of Cancer Empowered (FORCE). Calabria volunteers with the national nonprofit and Bossenberger attended meetings while she was weighing her options. "The women are very open to shar- ing their stories—'this is what it feels like, this is where my scar is, this is what it looks like,'" Bossenberger said. "It's a great community." Calabria, who leads FORCE meetings, says she tries to hold five to seven per year—both on the main Texas Medical Center campus and at MD Anderson's Sugar Land campus. She is working on adding meetings north of Houston. "I just retired, so I'm happy to give as much time to this as I can," Calabria said. Nangia and her colleagues also hold local conferences where they review current literature related to BRCA mutations, discuss emerging topics and give patients the opportunity to meet experts in the field and ask questions. "The longer we follow BRCA muta- tion carriers and the more information tested after a letter from a cousin who had been treated for breast cancer mentioned that her daughter was also being treated for breast cancer. That information, combined with a suspi- cious mammogram and consideration of other cancer history in the family, inspired Calabria to get tested in May 2013. Her test came back positive for the BRCA1 mutation. Calabria, then 52, opted for pro- phylactic surgeries and had a double mastectomy. She had her ovaries and fallopian tubes removed, as well. "I acted quickly—both of my parents died of cancer," Calabria said. "I know through family what living with cancer is like, and I thought if there was any way to prevent mine, I wanted to be proactive about it." Had she been 20 years younger, still dating and planning to have children, her choice may have been different, she added. "Everybody has to make their own decision about surveillance or surgery," Calabria said. "It's not an easy decision at any age." While knowing you have an increased risk of developing cancer has many advantages, Bossenberger noted it can be "a double-edged sword." "Not knowing is not good, but sometimes knowing too much is not good, either," she said. "Sometimes I we get, the more data we're getting about additional risks," Nangia said. "There are a lot of subtle nuances." Ethical and philosophical dilemmas Being identified as previvors places Calabria and Bossenberger in a complicated medical limbo. Geneticists are now able to identify previvors for a multitude of diseases, which marks a tangible advancement for science but also raises ethical and philosophi- cal questions. When it comes to health, is there such a thing as too much information? For Calabria, learning about her BRCA1 mutation and being able to take action was "empowering." The surgeons at The University of Texas MD Anderson Cancer Center who performed her dou- ble mastectomy found irregular cells that could have led to cancer, further solidifying her confidence that she had made the right decision. "For other genetic conditions, however, there isn't much you can do medically," said Amy McGuire, J.D., Ph.D., the Leon Jaworski Professor of Biomedical Ethics and director of the Center for Medical Ethics and Health Policy at Baylor. "You might make some lifestyle changes, but there's no real intervention you can do to prevent the disease from occurring." In some cases, patients may decide they simply don't want to know. Nobel Prize winner James Watson, Ph.D., one of the pioneers of genetics research who discovered the structure of DNA and helped initiate the Human Genome Credit: National Cancer Institute, cancer.gov/brca-fact-sheet I acted quickly—both of my parents died of can- cer. I know through family what living with cancer is like, and I thought if there was any way to prevent mine, I wanted to be proactive about it. — JUDY CALABRIA

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