Clinical trial gives women with gene mutation power over disease

By Norma Rabago

After her aunt died and her sister successfully endured ovarian cancer treatments, Juana Padron, a 40-year-old mother of four, chose to have a genetic test at the recommendation of her primary care physician.

Although her extended family members were opposed to the test, Padron moved forward and discovered she carried a BRCA1 gene mutation, which increased her chance of developing certain cancers.

“[My family] told me, ‘What can you do? If you get cancer, then you get cancer. It’s better not to know,’” Padron said. “I prefer to know. If I can prevent it from happening, I will do whatever I need to do.”

Padron’s next step proved even more alarming for her family; she chose to participate in a clinical trial.

Georgia McCann, MD, a gynecologic oncologist at Mays Cancer Center and chief of the Division of Gynecologic Oncology at The University of Texas Health Science Center at San Antonio, said the risks are high for developing ovarian cancer if the mutation is present.

“Women carrying this mutation have a 39% to 58% lifetime risk of ovarian cancer. This is very high in comparison to the average lifetime risk of 1.2%,” McCann said.

Typically, to reduce their risk of ovarian cancer, women with the mutation can have their ovaries and fallopian tubes surgically removed between the ages of 35–40 once they have completed childbearing. Unfortunately, removal of the ovaries results in early surgical menopause for these women — a condition with its own set of challenges.

“Menopause can result in mood changes and weight gain. The estrogen made by ovaries is also important for bone and brain health,” McCann said. “So, as you can imagine, many women aren’t excited about choosing surgical menopause at such a young age.”

McCann leads a clinical trial comparing two different surgical options for women carrying the genetic mutation. The non-randomized trial gives participants the choice to have the standard removal of ovaries and fallopian tubes or the option of surgical removal of the fallopian tubes followed later by surgical removal of the ovaries closer to the age of natural menopause. The option is based on data suggesting that some ovarian cancers start in the fallopian tubes.

“If the origin of a lot of ovarian cancers, especially in BRCA1 patients, is the fallopian tubes, then the question is, can we offer women a staged surgical procedure,” McCann said.

According to the American Cancer Society, over 19,000 women will receive an ovarian cancer diagnosis in 2023. Of those, 25% will be the result of a gene mutation.

Padron learned about the trial through her primary care physician and was the first to sign up. With BRCA1 results and intense menstrual cycles resulting in anemia, Padron hoped to find relief and peace of mind.

“More than anything, I wanted to tell my daughters and my family that we have this mutation in our family so they can do something to prevent getting cancer,” she said.

McCann said giving women the choice of surgical ovarian cancer risk reduction gives them power over the potential of developing the disease.

“Ovarian cancer is a devastating diagnosis. Knowing about a mutation that increases your risk of ovarian cancer is empowering,” McCann said. “Knowledge is power, and the information allows you to do something to make a difference for you and your family.”

Padron chose to have both her fallopian tubes and her ovaries removed. She said she encourages others to participate in clinical trials.

“If I didn’t participate in the study, how would my daughters know what could happen to them?” she said.