Breast cancer genetic testing: How one family took control
January 5, 2015 | by Nicole White
Betsy Sauer and her four daughters share plenty in common. They’re smart and successful. They’re funny, ranging from wryly witty to wickedly hilarious. Their hobbies tend toward the active and adventurous: hiking, rock climbing, skiing, swimming, fishing, kayaking, yoga and horseback riding. Also, they take health seriously.
They’ve had to.
Betsy Sauer is a two-time breast cancer survivor who learned that she was positive for a mutation in the BRCA genes, tumor-suppressing genes that, when mutated, are linked to an increased risk for breast and ovarian cancers. Women with these mutations can have up to an 80 percent risk of developing breast cancer. Knowing their mother's history, all four of her daughters underwent breast cancer genetic testing. Three of the four tested positive for the BRCA mutation.
Knowing their increased cancer risk gave them options for taking control of their health. “As hard as it was as a mom to know that I passed this on to my daughters, it was at least tempered by them having this information so they can be aggressive about their own health,” Sauer said in an interview with CBS News.
First, increased screening; then, a difficult choice
For the two oldest daughters, Jenny Sauer Shepard and Kristen Sullivan, that meant increased screening – alternating between mammograms and MRI screening every six months to detect cancer early should any develop. After they had children, both chose prophylactic surgeries. Both had double mastectomies followed by reconstructive surgery at City of Hope. Both also opted for surgery to reduce their risk of ovarian cancer.
“I just knew from seeing what my mom had gone through twice that if I could do anything to myself to not have that happen, that was the choice I wanted to make,” Shepard said.
Sullivan also said she had no doubts about having the prophylactic surgeries.
“I want to be around,” she said. “I want to see my daughter get married and my kids graduate from college. I want to grow old with my husband. So I had to get the breasts out … I did it for my kids. I did it for my husband. I did it for myself, but I’m last.”
Megan Friday also carried the gene mutation, and was going through the same enhanced screening as her sisters. But at age 27, just a few weeks after her wedding, she began bleeding from her nipple. Tests confirmed she had cancer. Although she was living in Las Vegas, Friday sought treatment at City of Hope, with the same surgeon who had treated her sisters, Courtney Vito, M.D., a surgical oncologist at City of Hope.
“Even though I knew my chances were high, I thought I was going to go through it like my sisters did,” she said. “I was going to have kids as soon as I could. I never thought I was going to be full-on diagnosed.”
Her cancer was in her milk duct and at a very early stage. Surgery addressed her cancer, and she did not need to have radiation. She also had a double mastectomy and reconstructive surgery. Friday completed her treatment in fall 2014.
Advice for all women
“For women in general, really try to know what the signs of breast cancer are,” Friday said. “Know what your breasts feel like, what an abnormal mass feels like. It’s not just a lump. It’s these other signs you need to be aware of.”
Some of those breast cancer signs and symptoms include swelling, pain, dimpling, breast or nipple pain, nipple inversion, discharge that is clear or bloody in addition to lumps.
Lauren Sauer, the youngest of the sisters, received the best news possible: She tested negative for the mutation.
As the Sauers illustrate, breast cancer genetic testing is an important tool for women who have strong family histories of breast cancer. It opens the door to different screening options, potentially prophylactic surgeries, and sometimes, peace of mind regardless of the outcome.
Vito sums up her recommendations this way: “If you think there is a risk in your family, speak to a physician well-versed in breast cancer and get an opinion on whether or not you deserve testing."
Learn more about becoming a patient or getting a second opinion at City of Hope by visiting our website or by calling 800-826-HOPE (4673). City of Hope staff will explain what's required for a consult at City of Hope and help you determine, before you come in, whether or not your insurance will pay for the appointment.