Anat Or, her mother Sarah, and daughter Etty faced a considerable dilemma after discovering they were carriers of the BRCA gene, which significantly increased their risk of developing breast and ovarian cancer.
About three years ago, on the recommendation of her gynecologist, 51-year-old Anat underwent a series of genetic tests to determine if she was a carrier of one of three genes associated commonly found in Ashkenazi Jews and indicative of an increased cancer risk. Her health maintenance organization (HMO) suggested additional screening for other risk-related genes. Anat agreed—a decision that ultimately saved her life.
The test results revealed that she carried the BRCA2 gene, which is linked to breast cancer. “I was shocked,” she recalls, “but a few hours later, I calmed down and reminded myself that the diagnosis didn’t mean I was sick. I’m healthy, and I put things into perspective.”
Anat had already witnessed the devastating effects of breast cancer firsthand when the disease took her aunt’s life 12 years earlier. Knowing she had the BRCA2 gene, she decided to do everything possible to prevent getting sick.</P><P>
Anat sought treatment at Rambam Health Care Campus (Rambam) in Haifa, Israel and opted to undergo two preventive surgeries: a bilateral mastectomy and an oophorectomy (removal of the ovaries). She was resolute in her decision. “I knew my recovery from the mastectomy would be difficult, but I was at peace with my choice.” After the surgeries, the pathology report revealed early signs of ovarian cancer.
Anat’s diagnosis also led her family to undergo genetic testing. Her 75-year-old mother, Sarah Klosovsky, and her brother were found to be carriers of the BRCA mutation. Sarah explained, “If Anat was a carrier, we all needed testing since the mutation can be inherited from either parent. Before this, it never occurred to me to be tested. Several years ago, my sister was also diagnosed with cancer, but her tests didn’t reveal the gene, so I didn’t worry.”
After her diagnosis, Sarah chose to undergo an oophorectomy but, despite the risks, decided against a preventive mastectomy. “Ovarian cancer is often detected late, so I opted to have my ovaries removed,” she explained. She recovered quickly from the surgery.
Testing for the BRCA1 and BRCA2 genes is recommended for women aged 25 or older of Ashkenazi Jewish descent, even if there is no known cancer risk. Just a few days after her 25th birthday, Etty took the test. “Given our family history and my mom and grandmother’s diagnoses, I felt it was important to get tested,” she explains. Her results confirmed that she, too, was a carrier. “It was a very stressful time, especially after witnessing my mother’s suffering.”
“I didn’t worry about myself, but my heart ached for Anat and her siblings,” Sarah recounts. It was hard to cope when Etty discovered she was a carrier. “She isn’t married, and we’re encouraging her and her partner to get married and start a family—then we’ll decide what to do next.”
Etty is fully aware of the risks but is hesitant to undergo surgery. “I’m not ready,” she says. “I’ll monitor my situation at Rambam’s BRCA clinic, but right now, the thought of surgery is overwhelming.”
The clinic’s nurse coordinator, Rita Wortman, emphasizes that the clinic provides comprehensive care personally adapted to each woman. This includes follow-up visits and breast imaging such as MRI, mammogram, and ultrasound, which must be performed more frequently in this at-risk population. “The clinic guides patients through the process, covering warning signs and changes in the breast as well as recommendations for ongoing follow-up,” she explains. Wortman points out that many women experience guilt about passing the gene on. Hence, the clinic also offers psychological support to help them cope. “Many women fear surgery, but today, with growing awareness and understanding the available options and solutions, they can overcome these challenges.”
Carriers of the BRCA gene have a 50-80% risk of developing breast cancer and a 50% risk of ovarian cancer. The mutation also increases the likelihood of skin, stomach, and pancreatic cancers. Male carriers can also develop breast, prostate, and other types of cancer.
Women with a family history of cancer in first-degree relatives, even if not of Ashkenazi descent, might also carry the mutation. In such cases, Wortman recommends genetic testing, adopting a healthy lifestyle, regular exercise, and a balanced diet.
Anat, Sarah, and Etty undergo follow-up care at the BRCA clinic twice a year. They try not to let health concerns dominate their lives. “We feel down if we think or talk about it all the time,” says Sarah. “It’s better to know earlier rather than later. I don’t neglect my health; my mother and grandmother are always supportive.”
The three convey an important message: “You must get tested, and if the results are positive, don’t ignore them—consult a physician.”
Based on a Hebrew article that appeared on Mako.