When Elisa Schoenfeld, a child development specialist, learned she had tested positive for a BRCA gene mutation, she knew it raised her risk for breast and ovarian cancer. She and her daughter, Amira, who received similar genetic test results, visited the BRCA Ovarian Previvor Clinic at Cedars-Sinai. That visit set the two on unique, personalized paths to managing their ovarian cancer risk.

“Our previvor clinic is here to empower people who have tested BRCA1 or BRCA2 positive to make informed choices about their health,” said BJ Rimel, MD, the gynecological oncologist who oversees the clinic, part of Cedars-Sinai Cancer and the Department of Obstetrics and Gynecology. “Patients receive regular ovarian cancer screenings and information about prevention options based on their level of risk, personal preferences and future plans for fertility.”

Elisa, who is 56, was tested for BRCA gene variants five years ago because she has a family history of cancer. Her results showed what is called a “variant of uncertain significance.” 

“This was a variant that they didn't know about. Most of these variants are considered to be negative, meaning no increased cancer risk,” Elisa said. “Five years later, my genetic counselor at Cedars-Sinai called to tell me that my particular variant was studied more and is now reclassified as positive.”

Amira, a 34-year-old speech-language pathologist who lives in Los Angeles, was recently tested and also had a variant of uncertain significance.

“The BRCA genes are massive and have many variants,” Rimel said. “Some are harmless—like a typo where you can still read the word—and produce a normal protein. Some produce a nonfunctional protein that increases cancer risk. There are others we aren’t yet certain about, but as we do more testing, we can reclassify those variants as either benign or risk-increasing and let those patients know.”

Rimel, who is also medical director of the Cancer Clinical Trials Office at Cedars-Sinai Cancer, recommends genetic testing through a healthcare provider for people of Eastern European Jewish descent—the group with the highest concentration of BRCA mutations—as well as any woman with a parent, aunt, uncle or child diagnosed with breast or pancreatic cancer before age 50, or ovarian cancer at any age.

She also encourages participation in the Gilda Radner Hereditary Cancer Program to help investigators learn more about the risks associated with being BRCA positive.

“The BRCA Ovarian Previvor Clinic and the Gilda Radner Hereditary Cancer Program are an important part of our service to the local community and to the broader patient and research community throughout the country,” said Dan Theodorescu, MD, PhD, director of Cedars-Sinai Cancer and the PHASE ONE Foundation Distinguished Chair. “They represent two of the many ways that we are leveraging precision medicine to improve treatment and save lives.”

The average woman’s risk for developing ovarian cancer during her lifetime is about 1.7%, according to Rimel. But that risk rises to 26% for women with a BRCA2 mutation and 45% for women with a BRCA1 mutation. Because of this, Elisa’s genetic counselor sent her information about the Cedars-Sinai previvor clinic, and she and Amira decided to make an appointment.

“We were the first mother and daughter to visit the clinic together,” Elisa said. “We both received really helpful information and I decided to have a hysterectomy and have my ovaries removed.”

Separately, Elisa also chose to have a double mastectomy and reconstruction. After discussions with Rimel, Amira visits the clinic every six months but likely won’t take further action until her late 30s or 40s.

“At this point in my life, I'm not looking to do anything as significant as what my mom did,” Amira said. “Dr. Rimel shared information about removal of my ovaries and fallopian tubes, but she doesn’t recommend it yet. For now, I feel like I’m doing everything I can to keep tabs on this in the best way possible. It gives me peace of mind and I feel confident in the advice I am receiving.”

The twice-monthly BRCA Ovarian Previvor Clinic is open to BRCA1- and BRCA2-positive patients who are between 30 years old, when ovarian cancer risk begins to rise, and 50, when health experts recommend that all BRCA-positive patients have their ovaries removed.

The hourlong appointment offers ovarian cancer-focused screening including a medical and family history, review of genetic tests, transvaginal ultrasound and pelvic exam. The final step is a blood draw that includes testing for an ovarian cancer tumor marker called CA-125, as well as other tests that might be needed based on findings from the exams. Most patients visit the clinic every six months.

“The goal of each visit is to pinpoint early warning signs that suggest a patient has developed ovarian cancer, and to help these patients as they journey through their reproductive years with conversations about their plans and about managing their risk,” Rimel said.

Patients can choose fertility-preserving options, such as egg freezing prior to removal of their fallopian tubes and ovaries, or they can join a clinical trial investigating whether removal of the fallopian tubes alone is enough to reduce a patient’s cancer risk.

Patients who do not wish to preserve their fertility can discuss removal of the fallopian tubes and ovaries during the recommended interval of ages 35-40 for BRCA1 carriers and 40-45 for BRCA2 carriers. Patients continue to visit the clinic for screenings until their ovaries have been removed, and Rimel stresses that each patient’s individual risk and preferences are taken into account.

“Our goal is for patients in clinic, as they reach that interval age, not to feel pressured to make choices about their reproduction at that moment, but to have the information they need to help them make these decisions, and an open and established dialog with supportive caregivers who can guide them,” Rimel said.

Amira and Elisa Schoenfeld each benefited from this guidance.

“The clinic was great,” Elisa said. “Everyone there makes you feel comfortable—and like you’re doing the right thing by staying ahead of your health.” (Newswise/KV)