Chris Evert says genetic testing saved her life

Genetic testing and a subsequent decision to have a hysterectomy to prevent ovarian cancer likely saved tennis legend Chris Evert’s life, she announced this past summer.

Evert was diagnosed after the loss of her sister to the disease in 2020. It was discovered through genetic testing that her sister had the BRCA 1 gene, which put Evert at risk of also developing ovarian cancer.

She decided to have a hysterectomy and was diagnosed with stage 1C ovarian cancer, when it was discovered that she had cancer cells in her tissue. She underwent six months of chemotherapy and is now doing well, she reported. Her physicians told her if they hadn’t found the cancer, she would likely have had a stage 4 diagnosis within four months.

“Expanded genetic testing has really increased to identify women at risk,” said Jaclyn Flanigan, MD, medical oncologist at Davenport-Mugar Cancer Center at Cape Cod Hospital. “It is completely standard now for every woman with a diagnosis of ovarian cancer to get genetic testing. This will lead to the woman’s family members having early identification of mutations.”

In addition to gene mutation defects, other risks of ovarian cancer, according to Dr. Flanigan, include:

• Advancing age
• Early menarche defined as less than 12 years of age
• Late menopause defined as greater than age 52
• Never having a full-term pregnancy
• First-degree relative with ovarian cancer, regardless of genetic testing,
• Lynch syndrome
• Endometriosis (slightly increases risk)
• Women who have pelvic radiation for other reasons.

While Evert didn’t have any symptoms of the disease, her sister had complained of shortness of breath, which led her to see her physician.

“The signs and symptoms we see are pretty broad,” said Dr. Flanigan.

They can include:

• Abdominal discomfort
• Pelvic pain
• Bloating
• The feeling of gaining weight when you haven’t changed your diet or exercise routine
• Decreased appetite
• Change in bowel habits
• Nausea
• Change in urination habits when feeling like you have to go all the time, frequency and urgency
• Shortness of breath.

She recommends if you have symptoms that you can’t explain, and that are persistent for a few weeks, you should pursue a diagnostic evaluation.

Fallopian Tubes Involvement

“In the past, we thought fallopian tube carcinoma was exceedingly rare and what we have learned is that it is actually quite common,” said Dr. Flanigan. “What we think is ovarian cancer may actually be starting in the fallopian tubes and spreading to the ovaries.”

Dr. Flanigan explained that more women in the general population, and at average risk for this cancer, are having opportunistic salpingectomy, or removal of their fallopian tubes, for primary prevention of ovarian cancer when they are having pelvic surgery for another reason.

“When you are past child-bearing age and you don’t need your fallopian tubes, I will often encourage it, and it is worth a discussion with your gynecologist,” she said.

She stresses that this surgery is different than risk-reducing surgery or risk-reduction bilateral salpingo-oophorectomy, which is removal of fallopian tubes and ovaries for women with a genetic mutation and who have been deemed at risk for developing ovarian and tubal cancer. For those women, it isn’t appropriate to just remove the fallopian tubes, they need to have their ovaries removed as well.

New Treatment and Targeted Therapies

Dr. Flanigan is enthusiastic about the new therapies available to women with ovarian cancer. While surgery followed by platinum-based chemotherapy in conjunction with Taxane are the mainstay, she said new advances in combination medications, targeted therapies and immunotherapy, hold promise to change the face of treatment.

Poly ADP-ribose polymerase inhibitor (PARP) inhibitors can be used as maintenance after a first-line treatment with chemotherapy. They help to repair damaged DNA inside cells.

Targeted therapy: Bevacizumab following chemotherapy as maintenance therapy has been shown to increase survival rates.

Immunotherapy: Pembrolizamab (Keytruda), in combination with other medications, shows promise for women who have recurrence as another treatment option.

“Only a small subset of women are candidates for immunotherapy, if they have a marker that indicates they will respond well to immunotherapy. It is an exciting option for use,” said Dr. Flanigan. “If a patient shows a certain marker that we have a targeted therapy against, such as Keytruda, then we are able to treat that patient’s tumor rather than the traditional one-size-fits-all approach.”

Dr. Flanigan stressed the importance of remaining up-to-date with health screenings.

“Even though we don’t have testing for ovarian cancer, if women get their mammograms, they are getting screened when they go to Cuda Women’s Health Center for increased risk of female malignancies,” she said. “That is how you get tapped into genetic testing even if you don’t have a history. Trust yourself, follow your gut and get your health screenings.”