How Genetic Testing and Conversation May Help Diagnose Ovarian Cancer

Tennis legend Chris Evert revealed last month she has ovarian cancer. She chose to share her diagnosis in a story written for ESPN and in a Twitter post.

“I wanted to share my stage 1 ovarian cancer diagnosis and the story behind it as a way to help others,” Evert wrote. “I feel very lucky that they caught it early and expect positive results from my chemo plan.”

She credits genetic testing for catching the disease at stage 1C, an early stage associated with an outstanding survival rate. According to Dr. Fadi Abu Shahin, a gynecologic surgeon with GenesisCare at the Regional Cancer Center, ovarian cancer stages range from stage I (1) through IV (4). Generally, the lower the number, the less the cancer has spread.

“Most people diagnosed with ovarian cancer are diagnosed at stage III or IV, which are associated with a worse survival rate,” Dr. Abu Shahin says. “In Ms. Evert’s case, only about 20 percent of ovarian cancers are found at an early stage. Her decision to undergo genetic testing to determine any susceptibility to certain cancers revealed a pathogenic (disease-causing) variant of the BRCA1 gene, which showed she was at increased risk for ovarian cancer.”

According to the American Cancer Society, nearly 20,000 women will be diagnosed with ovarian cancer in the United States this year. Ovarian cancer ranks fifth in cancer deaths among women, accounting for more deaths than any other cancer of the female reproductive system.

Evert’s younger sister, Jeanne Evert Dubin, was diagnosed in 2017 with ovarian cancer, which was found at a later stage. In February 2020, her sister died from the illness at the age of 62. While undergoing cancer treatment, Evert Dubin tested negative for harmful variants of the BRCA1 gene and other genes known to be associated with increased risks for ovarian cancer. These genes can be markers for susceptibility to certain cancers, such as breast and ovarian cancers.

At the time, family members were not encouraged to pursue genetic testing. (Are Genetic Tests for Cancer Worth It?) But in the years since her sister’s death, genetic testing has evolved, including reinterpretation of the BRCA1 gene.

In October, Evert learned that her sister’s genetic report was reinterpreted or reclassified after new data emerged and the genetic variant became better understood. Her sister’s BRCA1 gene was reclassified as a pathogenic variant. That month she underwent genetic testing and learned she was at an increased risk for ovarian cancer.

In December, Evert had a preventive hysterectomy, after which a pathology report showed a malignant tumor in her fallopian tube. The diagnosis was stage 1C ovarian cancer, which would require surgery and chemotherapy.

Evert said: "I just couldn't believe it. I had been working out, doing CrossFit, playing tennis. I didn't feel anything different."

Symptoms

Symptoms of ovarian cancer are often vague, making it difficult to detect early. Dr. Abu Shahin says cancer of the ovary is uncommon, but it causes more deaths than other female reproductive cancers.

“The sooner ovarian cancer is found and treated, the better your chance for recovery,” he says. “But ovarian cancer is hard to detect early. Women with ovarian cancer may have no symptoms or just mild symptoms until the disease is in an advanced stage. Then it is hard to treat.”

Symptoms may include:

• A heavy feeling in the pelvis
• Pain in the lower abdomen
• Bleeding from the vagina
• Weight gain or loss
• Abnormal periods
• Unexplained back pain that gets worse
• Gas, nausea, vomiting, or loss of appetite

Dr. Abu Shahin says other risk factors include older age, family history of breast, ovarian, or colorectal cancer.

Evert hopes her story inspires women to be aware of their bodies and to get screened for cancer before it’s too late.

“We need to have these conversations,” Evert says. “Ovarian cancer is a very deadly disease. Any information is power.”

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