Article: Chris Evert's ovarian cancer diagnosis highlights the importance of genetic counseling and testing

Contents

ARTICLE AT A GLANCE

What is this article about?

Chris Evert's ovarian cancer was found when she had risk-reducing surgery because of an inherited mutation that increases the risk for ovarian cancer. The majority of ovarian cancer is advanced by the time it is diagnosed; about 75 percent of cases are diagnosed at stage 3 or stage 4. In contrast, during her surgery, Ms. Evert was found to have stage 1 cancer, which is frequently curable. Her story highlights the importance of genetic counseling and testing and the importance of following up with a genetics expert to understand test results and preventive options.

Types of genetic test results

Most genetic testing for inherited cancer risk provides clear answers about whether an individual has a harmful mutation that is linked to cancer. Clear results include gene changes (mutations) that are known to be either benign (harmless) or pathogenic (harmful). Sometimes, however, it’s unclear whether the identified change is harmless or harmful. This type of test result is known as a Variant of Uncertain Significance (VUS). Variants of uncertain significant are just that - uncertain. This term means that experts cannot be sure  whether the mutation is harmless or harmful.

Knowing whether you have a harmful mutation allows you to better understand your risk for cancer and take action to manage these risks. If you test positive for a mutation, expert guidelines recommend screening and preventive options. Depending on the mutation, risk-management options may include preventive surgery to lower your risk or increased surveillance to identify cancer at the earliest stage possible when treatment is more likely to be successful.  

Your genetic test results can also provide your relatives with information about their own cancer risk. If you test positive for a harmful mutation that is linked to an increased risk for cancer, your relatives can be tested for the same mutation. On the other hand, VUS results can be frustrating because they don’t provide you or your relatives with much information about your cancer risk. Over time, as more people have genetic testing and the science improves, researchers will be able to categorize more results that are now VUS into harmful or harmless. This process is referred to as “reclassifying variants.”

Following up on a test result of a Variant of Uncertain Significance

On average, only 10 percent of VUS results are reclassified as harmful (pathogenic) mutations that may increase cancer risk. The majority (90 percent) of VUS results are reclassified as harmless, with no detectable impact on cancer risk. It can take a long time to understand whether a VUS is harmful or harmless. Although some VUS reclassifications have taken 20 years, a recent study shows that most VUS are reclassified about 3.5 years after they are first detected. Some of these uncertain changes are never reclassified, usually because they are rare and the number of people with that VUS is too few to recognize its impact on cancer.

If you’ve received a VUS result from genetic testing, it is important to stay in touch with your genetic counselor to be aware of a reclassification. Chris Evert experienced this firsthand. Her sister, Jeanne Evert Dubin, was diagnosed with ovarian cancer in her late 50s. After her diagnosis, she had genetic testing, which showed that she had a VUS in the BRCA1 gene. Due to the uncertainty associated with VUS results, it is not recommended that family member be tested for VUS.

Several years later, Ms. Evert was informed that her sister's VUS had been reclassified as a pathogenic (harmful) mutation. Due to the reclassification, Ms. Evert then had genetic testing and found that she and her sister had inherited the same harmful mutation.

Preventive options for people with an inherited mutation

Knowing that you are at increased risk of cancer allows you to decide whether to increase surveillance to identify a future cancer at the earliest stage possible or to pursue preventive surgical options to lower your risk of developing cancer.

A harmful BRCA1 mutation increases the risk for several cancers, including breast, ovarian and pancreatic cancer. Given her sister's ovarian cancer diagnosis, Chris Evert chose to reduce her cancer by having her uterus and ovaries removed.

As she noted:

"We thought we were being proactive...Since Jeanne had ovarian cancer, that was the priority. A breast decision is down the road."

Finding cancer during preventive surgery

When people at increased risk have risk-reducing surgeries, the removed tissue is examined for cancer. Sometimes unexpected cancers are found in this way. To reduce ovarian cancer risk, it is important to examine the tissue that is removed from the ovaries and nearby fallopian tubes. While finding no cancer is ideal, finding ovarian cancer early has been linked to better survival. In Ms. Evert's case, her post-op pathology showed that she had stage 1C ovarian cancer.

When cancer is found at an early stage, like Chris Evert's diagnosis, treatment is often more effective, and outcomes are better.

As Chris Evert's provider Dr. Joel Cardenas pointed out:

"Seventy to eighty percent of ovarian cancer is diagnosed at Stage 3 or 4."

Early ovarian cancer often has no symptoms

As Chris Evert points out in her article, she had no symptoms. This is common with ovarian cancer, especially at early stages. Until cancer spreads to the abdomen and affects other organs, there often is nothing to notice. By the time someone has symptoms, ovarian cancer is often advanced or metastatic and much harder to treat successfully.

Some cancers signal their presence in ways that can be monitored. Rising PSA levels in the blood, for example, may signal the presence of prostate cancer, while a lump in the breast may indicate breast cancer. But currently, no validated tools can detect ovarian cancer. The one measure that is sometimes used, CA-125 blood level testing, is unreliable. Chris Evert’s CA-125 levels were normal, even though she had ovarian cancer. Similarly, ultrasound and MRI failed to detect her cancer, which is commonly the case with early stage ovarian or fallopian tube cancers. For this reason, screening with ultrasound and CA-125 is not seen as a substitute for risk reduction surgery.  

Many of the symptoms that have been linked to ovarian cancer are common conditions of other health situations, including fatigue, bloating, abdominal pain, and a feeling of having to urinate urgently or more frequently than normal. When these commonly occurring symptoms are caused by ovarian cancer, they tend to be more persistent (rather than intermittent) and are a noticeable change in a person's normal health. It is important to discuss these signs with your doctor to determine if they warrant a follow-up.

Chris Evert's advice: be proactive

Chris Evert urges people to:

"Be your own advocate. Know your family's history. Have total awareness of your body, follow your gut and be aware of changes. Don't try to be a crusader and think this will pass."

She also points out that:

"The perception of gynecologic cancers (ovarian, cervical, fallopian tube, uterine) as a women's disease or cancer also needs to change. Mutations to the BRCA1 gene can lead to an increased risk of cancer for people of all gender identities."

Transgender individuals have cancer risks that are associated with the organs present in their bodies.

Men with BRCA mutations are also at risk of cancer, including breast cancer (Yes, men have breast tissue too!) and an increased risk of prostate cancer.

And people with BRCA mutations of any gender have an increased risk of pancreatic cancer.

A common misconception is that the genes linked to breast and ovarian cancer are always from your mother's side of the family. However, a person can inherit a BRCA mutation from either biological parent. Knowing the medical history of both sides of your family is important information to convey to your healthcare provider so they have a complete understanding of your risks.

What does this mean for me?

Research increasingly shows that many inherited mutations can elevate a person’s risk for multiple types of cancer. If your family has a history of cancer on either side, consider consulting a genetic counselor about whether genetic testing is appropriate for you.

If you have been diagnosed with a gene mutation that is a VUS (variant of uncertain significance), check back with your provider regularly to learn whether it has been reclassified as harmless or harmful. Setting an annual reminder to check with your provider may be helpful.

Some families that have a significant history of cancer have no known inherited mutations. The frequency of cancer in these families suggests an increased cancer risk that can be inherited but that the gene or genes responsible have yet to be identified. If you have a strong family history of cancer, you may want to talk to a genetic counselor or another healthcare provider about whether increased surveillance or risk-reducing options are warranted for your situation—even if you do not have a known inherited mutation.

References

Chris McKendry and Chris Evert, Chris Evert opens up about her stage 1C ovarian cancer diagnosis, ESPN.com, published online January 14, 2022.

Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board before publication to assure scientific integrity.

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posted 2/8/22