Sign in Get started STAYING HEALTHY PREGNANCY CANCER GENETIC ILLNESS HEALTHCARE PROVIDERS REAL STORIES INVITAE.COM Sarah’s story: How genetic testing informed this patient’s treatment decisions — for the better. One simple genetic test provided critical information that changed Sarah’s course of treatment and prevention. Invitae Follow Sep 22 · 6 min read Sarah with her family. Shortly after she turned 40, Sarah’s Ob/Gyn scheduled her for her first mammogram, a routine test designed to screen for breast cancer. As far as Sarah knew, cancer didn’t run in her family, so she wasn’t too concerned; with a busy work and family life amid a pandemic, she almost blew off her appointment. Thankfully she didn’t. Sarah’s mammogram found calcification (calcium deposits that show up as white spots on a mammogram) in her right breast. Calcifications don’t always mean cancer, but in some cases, they are an indicator of stage 0 cancer, otherwise known as early-stage ductal carcinoma in situ (DCIS).¹ Sarah’s radiologist didn’t seem too concerned, telling her they were 99% sure it was nothing. But, to confirm, he recommended that Sarah get a biopsy within the next six months. Instead of worrying all that time, Sarah decided to have the procedure right away. Sarah’s instincts served her well. The biopsy uncovered DCIS dispersed throughout her breast. Her breast surgeon offered her the option to have a mastectomy on her right breast, but “after doing boat-loads of research,” Sarah wasn’t convinced that she needed to, since studies suggest that women who are diagnosed with DCIS generally have a low risk of dying of cancer²—in a study published in 2015, the breast-cancer mortality rate following a diagnosis of DCIS was 1.1% at 10 years and 3.3% at 20 years.³ “I was really in the mindset of active surveillance, changing my lifestyle and doing some more holistic approaches.” The only instance of cancer in Sarah’s family was an aunt who had breast cancer 25 years ago but has been in remission ever since. “Because [my aunt’s cancer] was so long ago, it didn’t dawn on me that there was any correlation.” Yet her doctor recommended genetic testing, just in case. Sarah took an Invitae genetic test, assuming it would be negative since cancer wasn’t a big part of her family’s health history. Then, two weeks before Sarah’s genetic test results arrived, she discovered she was unexpectedly pregnant. Sarah’s DCIS was hormone-receptor-positive, meaning the hormones estrogen and/or progesterone have a pathway to fuel the growth of cancer cells. She started to “get really nervous” and called her breast team right away. News of cancer comes with so many questions and decisions. Add in a surprise pregnancy, and the responsibility of decision-making compounds tremendously. “They told me, ‘This is really dangerous; pregnancy makes your hormones go through the roof.’” Later, Sarah experienced what she now considers “a blessing from God”—a miscarriage at six weeks. “It was really sad, but at the same time, if I had remained pregnant, who knows where I’d be now.” Then, Sarah’s genetic test results arrived-with a positive BRCA1 result that means she has up to a 72% risk of developing breast cancer by the time she turns 80, significantly higher than the 13% lifetime risk for the average person.⁴ “I was floored. Completely floored,” she says. “They don’t teach you these things as a part of health education. I go to the gynecologist every year, and no one ever brought this up to me.” Sarah’s genetic test result changed Sarah’s course of action-and, she says, probably saved her life. Because BRCA1 dramatically increases the likelihood of getting breast cancer, Sarah quickly changed course from active monitoring to immediate treatment and prevention. “Genetic testing changed my complete mindset,” she says. Instead of opting for the single mastectomy initially offered by her breast surgeon, Sarah chose to have a double, nipple-sparing mastectomy with immediate, direct-to-implant reconstruction surgery to treat her right breast and prevent cancer from developing in her left breast. A few weeks after the surgery, Sarah’s pathology report showed that the tumor broke through-meaning some of the cancer cells moved beyond the margins of the tumor, likely caused by pregnancy hormones. Since BRCA1 is also associated with a significantly increased risk of ovarian cancer, Sarah decided to remove her ovaries and fallopian tubes. “Once I found out I had BRCA1, I just decided. I have a chance to do something,” she says. “How do I say no to an opportunity to reduce all these chances of having cancer and still be there for my children and my family?” Genetic changes that increase the risk of cancer-like Sarah’s BRCA1 result-are inherited, so one patient’s genetic test results can guide entire families to make choices that support their health. “I was the uncovering factor for my entire family,” Sarah says. “I don’t want 20 years to go by and for them to get sick.” Sarah sent out an email to let her family members know they each had a 50% chance of being affected.⁵ She knew she couldn’t force anyone to do anything, but she told them, “For your own safety, and your children’s safety, I think you should get tested. At a minimum, have your female children get their mammograms-and get them early.” With two surgeries and a breast reconstruction behind her, Sarah’s doing incredibly well, both in spirit and health. “I’m incredibly happy with my surgical and reconstructive results,” she says. Sarah and her medical team will continue monitoring her health for the rest of her life. She’s now taking hormone-blocking medication, but says that’s nothing compared to experiencing chemotherapy, radiation, or worse. Sarah attributes avoiding more aggressive treatments to her genetic test. Without it, she may have chosen a different course—one that gave the cancer time to grow and to spread. “I found this out so I can do something about it. I can continue to live my life,” she says. “I feel so glad that I know about my genetic variant so I can help protect my kids, and for me, there are so many options. I have faith that I’m going to be ok.” Today, there is no evidence of existing cancer and Sarah’s medical team feels confident that her risk of recurrence is really low. She knows eventually she’ll need to talk to her two children about getting tested in the future, but for now, she’s glad they have the option to see whether they have the BRCA1 gene. If they do, there’s something they can do to prevent cancer from being in their future too. Sarah also has faith in science: “Treatment and options are going to continue to improve for this.” When it comes time for her children to know, their options will be even better than what’s available today. “I feel so good that if my children do have BRCA1, they will have options. And I feel blessed we can take control with preventive measures if needed,” Sarah says. To help others by contributing her data to research, Sarah joined two clinical trials looking at the link between BRCA1 and DCIS. She continues to advocate for education on genetics and promotes early detection of variants. Invitae offers genetic testing for all stages of life. To explore genetic testing options that are right for you, visit us online. To hear more stories from people like Sarah, visit us here. References: Calcifications. BREASTCANCER.ORG. November 19, 2018. Accessed May 1, 2021. https://www.breastcancer.org/symptoms/benign/calcifications NCI Staff. Risk of breast cancer death is low after a diagnosis of ductal carcinoma in situ. NIH website. August 26, 2015. Accessed May 1, 2021. https://www.cancer.gov/news-events/cancer-currents-blog/2015/dcis-low-risk Narod SA, Iqbal J, Giannakeas V, Sopik V, Sun P. Breast Cancer Mortality After a Diagnosis of Ductal Carcinoma In Situ. JAMA Oncol. 2015;1(7):888–896. doi:10.1001/jamaoncol.2015.2510 Kuchenbaecker, K. B., et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA, 317(23), 2402–2416. https://doi.org/10.1001/jama.2017.7112 Besser AG, Mounts EL. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening. Reprod Biomed Online. 2017;34(4):369–74. Genetic Testing Breast Cancer Cancer Health Womens Health WRITTEN BY Invitae Follow Invitae Corporation is a genetics company committed to providing genetic information to help inform healthcare decisions throughout all stages of life. Health decoded: The science of healthy living Follow Invitae’s mission is to bring genetics to mainstream medicine to improve healthcare for billions. 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