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Lynch Syndrome and the Risk of Ovarian Cancer

Medically reviewed by Julie Scott, DNP, ANP-BC, AOCNP — By Jill Seladi-Schulman, Ph.D. on October 18, 2022Lynch syndrome is an inherited condition. That means that it’s passed down to a person from their parents. People who have Lynch syndrome are at an increased risk of several types of cancer compared with the general population. One of these cancers is ovarian cancer. In this article, we discuss how Lynch syndrome increases the risk of ovarian cancer and other types of cancers and what you can do to lower your risk of developing ovarian cancer if you have Lynch syndrome. Share on PinterestCancers associated with Lynch syndrome. Illustration by Maya Chastain

How does Lynch syndrome increase the risk of ovarian cancer

Lynch syndrome is caused by a single mutation in one of several genes that are involved in DNA mismatch repair. The proteins encoded by these genes are a vital part of DNA replication, the process by which DNA is copied in cells. DNA mismatch repair proteins work to fix situations in which the building blocks of DNA, called nucleotides, pair incorrectly during DNA replication. When these mismatches aren’t fixed, they can lead to DNA changes that can cause cancer. Lynch syndrome increases the risk of many different types of cancer, including ovarian cancer. The exact level of risk depends on which gene contains the mutation. Overall, ovarian cancer is rare. The American Cancer Society estimates that 1 in 78 (1.2%) of people with ovaries will develop ovarian cancer during their lifetime. Additionally, more than half of people receive a diagnosis at age 63 or older. In contrast, people with Lynch syndrome have a 3% to 17% lifetime risk of developing ovarian cancer. They also often develop cancer at a younger age than people without Lynch syndrome.

What other cancers are associated with Lynch syndrome

In addition to ovarian cancer, people with Lynch syndrome are also at risk of several other types of cancer. These cancers typically develop at a younger age than is typical. The table below shows these cancer types and the risk of developing them by age 50, according to a 2019 study.Location of cancerFemale riskMale riskAny locationup to 41.5%up to 39.2%Colon/rectumup to 20.8%up to 36.6%Endometriumup to 17.5%Stomach, small bowel, bile duct, pancreasup to 2.2%up to 2.1%Kidney and ureterup to 2.2%up to 2.4%Bladderup to 2.1%up to 4.3%Brainup to 0.6%up to 1.1%Prostate—up to 4.6%Female breastup to 3.3%— It’s important to remember that cancer risk can vary based on factors like age and mutation type. Generally speaking, risk increases with age. Additionally, some mutations carry a higher risk of certain cancers, but not others. Because of this, it’s important to discuss your individual cancer risk with a doctor if you have Lynch syndrome. They can give you a better idea of what to expect for your specific situation.

Should you get a hysterectomy if you have Lynch syndrome

Since Lynch syndrome increases the risk of both ovarian and endometrial cancer, you may be wondering if getting a hysterectomy that also removes the ovaries is a good cancer prevention tactic. A hysterectomy is a surgery to remove the uterus. The procedure to remove both ovaries and fallopian tubes is called a bilateral salpingo-oophorectomy. These procedures are typically done at the same time. An older 2006 study of people with Lynch syndrome found that those who had risk-reducing surgery didn’t develop ovarian or endometrial cancer. These cancers were diagnosed in 5% and 33% of those that didn’t receive surgery, respectively. As such, risk-reducing surgery is recommended for people with Lynch syndrome after childbearing is complete. This is supported by research that suggests risk-reducing surgery provides little benefit prior to menopause or age 40. In the meantime, talk with a doctor about cancer screenings, including those for ovarian cancer, that are recommended for people with Lynch syndrome. Staying on top of screenings can help detect cancer early, when it’s easier to treat.

Symptoms of ovarian cancer

Ovarian cancer can cause various symptoms. However, many of these don’t begin until the cancer is more advanced. Some to look out for include:pain in your abdomen or pelvisabdominal bloatingfeeling full shortly after eatingincreased urinary urgency or frequencyfatigueconstipationpain during sexperiods that are heavier or more irregular than is typical for you Many of these symptoms are caused by other more common conditions. However, being symptom aware is still important. See a doctor for any symptoms that happen more frequently or are more severe than usual.

How do you know if you have Lynch syndrome

If a close relative has Lynch syndrome or you have a strong family history of cancers associated with Lynch syndrome, it’s important to talk with a doctor. They may recommend that you receive genetic testing. Eligibility for genetic testing for Lynch syndrome often follows a set of criteria called the Amsterdam criteria. This means that you:have at least three relatives that have a cancer associated with Lynch syndrome and:one of these relatives is a close family member, such as a parent, sibling, or child, of the other two relativesat least two consecutive generations have been affected by cancers associated with Lynch syndromeat least one of the relatives received their cancer diagnosis at an age younger than 50 Genetic testing can help to determine if you have Lynch syndrome. If so, you’ll be referred to a genetic counselor who can help you understand your level of cancer risk and what preventive steps you can take.

If you ve received a cancer diagnosis

If you’ve already received a diagnosis of a cancer that’s associated with Lynch syndrome, your cancer may be tested for markers associated with Lynch syndrome. Guidelines called the revised Bethesda guidelines are often used to determine when this testing is recommended. These guidelines recommend testing if you:are younger than age 50 at the time of your diagnosishave or had another cancer associated with Lynch syndromeare younger than age 60 and the cancer has specific characteristics associated with Lynch syndrome when a doctor looks at it under a microscopehave a close relative, such as a parent, sibling, or child, who had cancer associated with Lynch syndrome diagnosed at an age younger than 50have two or more close or more distant relatives, such as grandparents, aunts, or uncles, that had a cancer associated with Lynch syndrome at any age Only one of the criteria above must be met for testing to be recommended.

Techniques used to test for Lynch syndrome

Two techniques can be used to test your cancer for Lynch syndrome:Immunohistochemical staining: Immunohistochemical staining is used to look for DNA mismatch repair proteins in a tissue sample. Missing one or more of these proteins suggests Lynch syndrome.Microsatellite instability: Microsatellite instability testing is used to look at specific DNA sequences to see if they’ve changed in length due to DNA mismatch repair not functioning as it should. When these sequences are longer or shorter than expected, it can suggest Lynch syndrome. If either or both of these tests suggest that you may have Lynch syndrome, genetic testing and genetic counseling will be recommended.

What s the outlook for someone with Lynch syndrome

While people with Lynch syndrome have a higher risk of cancer, the outlook for people with these cancers is often positive. This is likely due to increased screening and prevention measures for people with Lynch syndrome. A 2017 study notes excellent survival rates for many cancers associated with Lynch syndrome, including ovarian cancer. Further, a 2016 review of 747 ovarian cancers in people with Lynch syndrome found that 65% were diagnosed at stage 1 or 2 and that those with a cancer diagnosis had good overall survival. People with Lynch syndrome are also at risk of developing a second cancer. A 2017 study found that the survival rate for those with second cancers is also generally favorable.

Frequently asked questions about Lynch syndrome

How common is Lynch syndrome

Lynch syndrome affects an estimated 1 in 279 people. However, a 2019 review notes that studies of the prevalence of Lynch syndrome are rather limited and could vary by population.

How is Lynch syndrome inherited

Lynch syndrome is inherited in an autosomal dominant manner. That means that only one copy of a mutated gene needs to be present for a person to have Lynch syndrome. We inherit a copy of each gene from each of our parents. So, if one parent has Lynch syndrome, you have a 50% chance of having Lynch syndrome yourself.

Does everyone with Lynch syndrome get cancer

No. Having Lynch syndrome means that you’re at an increased risk of developing cancer compared with the general population. However, it doesn’t mean that you’ll absolutely get cancer during your lifetime.

What is the typical age when people with Lynch syndrome get cancer

According to the Centers for Disease Control and Prevention (CDC), people with Lynch syndrome are more likely to get cancer before age 50. The 2016 review discussed above found that the average age at diagnosis of ovarian cancer in people with Lynch syndrome was 45.3.

Takeaway

Lynch syndrome is an inherited condition that increases your risk of several different cancer types. One of these is ovarian cancer. People with Lynch syndrome can benefit from regular screenings for ovarian cancer. Additionally, a risk-reducing hysterectomy with a bilateral salpingo-oophorectomy may be recommended after childbearing is complete. The outlook for people with Lynch syndrome who have any of many types of cancer, including ovarian cancer, is generally positive. This is because many cancers are detected when they’re still in an earlier stage. If you have a relative with Lynch syndrome or a strong family history of cancers associated with Lynch syndrome, talk with a doctor. They may recommend genetic testing to determine if you have Lynch syndrome. Last medically reviewed on October 18, 2022

How we vetted this article

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Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 18, 2022 By Jill Seladi-Schulman, PhD Edited By Willow Banks Medically Reviewed By Julie Scott, DNP, ANP-BC, AOCNP Copy Edited By Christina Baswell Share this articleMedically reviewed by Julie Scott, DNP, ANP-BC, AOCNP — By Jill Seladi-Schulman, Ph.D. on October 18, 2022

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