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

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Contents

At a glance Clinical trials
Following up on a Guidelines
Preventative options for people with an inhertied mutation Resources
Early ovarian cancer Peer support
What does this mean for me? Finding experts

 

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 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 3 or 4. In contrast, during her surgery, Ms. Evert was found to have 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 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 (). 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 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, 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 into harmful or harmless. This process is referred to as “reclassifying variants.”

 

Following up on a test result of a

On average, only 10 percent of results are reclassified as harmful (pathogenic) mutations that may increase cancer risk. The majority (90 percent) of results are reclassified as harmless, with no detectable impact on cancer risk. It can take a long time to understand whether a is harmful or harmless. Although some reclassifications have taken 20 years, a recent study shows that most 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 is too few to recognize its impact on cancer.

If you’ve received a 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 in the gene. Due to the uncertainty associated with results, it is not recommended that family member be tested for .

Several years later, Ms. Evert was informed that her sister's 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

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 possible or to pursue preventive surgical options to lower your risk of developing cancer.

A harmful 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 . 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 1C ovarian cancer.

When cancer is found at an early , 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 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 and much harder to treat successfully.

Some cancers signal their presence in ways that can be monitored. Rising levels in the blood, for example, may signal the presence of 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, blood level testing, is unreliable. Chris Evert’s levels were normal, even though she had ovarian cancer. Similarly, and failed to detect her cancer, which is commonly the case with early ovarian or cancers. For this reason, screening with and 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, , uterine) as a women's disease or cancer also needs to change. Mutations to the 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 mutations are also at risk of cancer, including breast cancer (Yes, men have breast tissue too!) and an increased risk of cancer.

And people with 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 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 (), 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 .

 

References

Chris McKendry and Chris Evert, Chris Evert opens up about her 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

This article is relevant for:

People with genetic test result called a VUS

This article is also relevant for:

people with breast cancer

people with ovarian cancer

people with a family history of cancer

previvors

people with a genetic mutation linked to cancer risk

Be part of XRAY:

Expert Guidelines
Expert Guidelines

The National Comprehensive Cancer Network (NCCN) provides guidelines for management of gynecologic cancer risk in people with and mutations. 

Prevention 

  • Risk-reducing removal of ovaries and , (known as salpingo-oophorectomy) is recommended between ages 35-40 for and 40-45 for and upon completion of childbearing.
    • Research studies show that removing the ovaries can increase survival for women with  mutations. 
    • Women should talk with their doctors about the effects of early menopause and options for managing them.
  • Women should talk with their doctors about the risks and benefits of keeping or removing their uterus (hysterectomy), including:
    • Women with a  mutation have an increased risk for a rare form of aggressive uterine cancer; hysterectomy removes this risk. 
    • For women considering hormone replacement after surgery, the presence or absence of a uterus can affect the choice of hormones used.
      • Estrogen-only hormone replacement is less likely to increase the risk for breast cancer, although it increases the risk for uterine cancer. Women who still have their uterus are typically given hormone replacement with both  and progesterone.
      • Adding progesterone to hormone replacement can protect against uterine cancer. However, the combination of these hormones may increase the risk for breast cancer more than alone. 
    • A medical history of fibroids or other uterine or cervical issues may justify a hysterectomy. 
  • Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in women with  mutations. Research on the effect of oral contraceptives on breast cancer risk has been mixed. Women should discuss the benefits and risks of oral contraceptives for lowering ovarian cancer risk with their doctors. 
  • Removal of the  only () is being studied as an option for lowering risk in high-risk women who are not ready to remove their ovaries. Studies on the effects of are ongoing. At this time whether  lowers the risk for ovarian cancer in high-risk women remains unknown. 
    • Consider enrolling in a research study looking at this procedure to lower cancer risk.

Screening

  • There are no proven benefits to routine ovarian cancer screening using transvaginal  and a  blood test. However, some doctors still recommend this screening, starting at ages 30-35.
  • Women should be aware of the symptoms of gynecologic cancer and report abnormalities to their doctors. 

Updated: 05/08/2024

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • With my personal and family history, should I consider genetic testing?
  • What are the risks and benefits of genetic testing?
  • How do I find a genetic counselor?
  • I have a . Is there updated information about the classification of my ?
  • With the or mutation that I have, what prevention options should I consider?
  • I have cancer and a known , what are my treatment options?
  • I have a strong family history of cancer but have no identified , what are my preventive or treatment options?

Open Clinical Trials
Open Clinical Trials

The following are studies looking at ovarian cancer screening or prevention.  ​​​​​

Additional clinical trials for ovarian cancer screening and prevention may be found here.

Updated: 09/11/2022

Peer Support
Peer Support

The following organizations offer peer support services for people with or at high risk for ovarian cancer:

Updated: 02/05/2022

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselors website has a search tool for finding a genetic counselor by specialty and location or via telehealth. 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • Gene-Screen is a third-party genetic counseling group that can help educate, support and order testing for patients and their families. 
  • JScreen is a national program from Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 

Related experts

Genetics clinics

Other ways to find experts

Updated: 07/21/2023

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