Clinical trial gives women with gene mutation power over disease

September 8, 2023 9:00 am

The following article is provided by The Clearity Foundation to support women with ovarian cancer and their families. Learn more about The Clearity Foundation and the services we provide directly to women as they make treatment decisions and navigate emotional impacts of their diagnosis.

Shared by Norma Rabago

When Juana Padron, a 40-year-old mother of four, chose to have a genetic test, going against her friends and family’s advice was the last thing on her mind.

Padron’s aunt died from breast cancer, and she watched her sister endure two surgeries and chemotherapy as she successfully fought off ovarian cancer.

Her primary care physician recommended a genetic test to determine if the cause of cancer in both family members resulted from a genetic mutation. But family and friends were opposed to the idea.

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

The test showed that Padron had a mutation to the BReast CAncer 1 gene (BRCA1), making her more likely to develop ovarian cancer. Padron’s next step proved even more alarming for her family; she chose to participate in a clinical trial.

Georgia McCann, MD, a gynecological oncologist at Mays Cancer Center, home to UT Health San Antonio MD Anderson Cancer Center, said the risks are high for developing ovarian cancer if the mutation is present.

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

The recommended preventive measure to reduce the risk of ovarian cancer in women with BRCA1 mutations is to 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 that compares two different surgical options for women carrying genetic mutations in the BRCA1 gene. 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 actually 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,” she said. “Once they are done childbearing, they have only their fallopian tubes removed, preventing early surgical menopause. Later, closer to natural menopause, women can choose to have a second surgery to remove the ovaries.”

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

BRCA1 is a gene that everyone carries, with one set from their mother and one from their father, according to the Centers for Disease Control and Prevention. If the genes function correctly, they serve as cancer suppressors. However, if a mutation in the gene occurs, it increases the risk of developing breast cancer and ovarian cancer.

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,” she said. “So they can do something to prevent getting cancer.”

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. It affords affected women some control over the intervention and some power to affect the outcome,” McCann said. “Knowledge is power, and the information allows you to do something to make a difference for you and your family. What we do know is that if a woman develops ovarian cancer, it’s often deadly.”

McCann said the risk-reducing surgery typically performed is minimally invasive, requiring small incisions and shorter recovery time.

“Patients experience lower risk of blood loss, infection and complications,” McCann said. “A lot of women do recover from this surgery very quickly.”

Padron chose to have both her fallopian tubes and her ovaries removed. She said the recovery has been relatively easy. She did experience hot flashes, but medication helped her overcome the symptoms.

She said she encourages others to participate in clinical trials. As a Mexican national, Padron said participants from all cultures are needed to advance science.

“People from my culture don’t think that way,” she said. “If I didn’t participate in the study, how will my daughters know what could happen to them?”

This article was published by: UT Health San Antonio

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