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Most endometrial cancer cases are not hereditary, meaning that the disease isn’t passed down in your family. But a few are linked to inherited genetic conditions — particularly Lynch syndrome. This syndrome increases the risk of several cancers, including endometrial cancer. Women can have up to a 60 percent chance of developing endometrial cancer if they have Lynch syndrome, according to Memorial Sloan Kettering Cancer Center.
In this article, we’ll review how genetics can contribute to your risk for endometrial cancer. We’ll also discuss how these conditions are diagnosed and what can be done after diagnosis to keep you healthy.
Lynch syndrome is a genetic condition that causes you to have a high risk of getting cancer. Carriers of Lynch syndrome have an increased risk of developing many types of cancer, including:
People with Lynch syndrome often develop cancer before they’re 50 years old. Most people without this syndrome who develop cancer do so after they’re 50. About 3 percent of women in the general population are diagnosed with uterine cancer, according to Cleveland Clinic. But for people with Lynch syndrome, the risk is much higher. They have a 40 percent to 60 percent lifetime chance of developing endometrial cancer — the most common type of uterine cancer.
Cancer and tumors form when normal, healthy cells in the body start to grow abnormally and divide too much. This can happen when the genes in those cells get damaged or change. When genes change, it’s called a mutation. One way the body prevents cancer is by using other genes that repair these mutations. Lynch syndrome occurs when the repair genes have mutations that prevent them from working correctly.
Mutations in the following DNA repair genes can cause Lynch syndrome:
Lynch syndrome is the most common genetic factor that can increase your risk for cancer, but many other genetic factors increase this risk as well.
Endometrial cancer is strongly tied to excess weight and hormone issues, so if those issues or diabetes run in your family, you may be at a higher risk.
Cowden syndrome is another hereditary syndrome that can be passed to you from your parents. This syndrome happens when there are gene mutations that control cell growth and survival, primarily the PTEN gene. About 21 percent to 28 percent of people with Cowden syndrome get endometrial cancer.
Other mutated genes that control DNA and cell proliferation, survival, and repair can also give you a higher chance of developing endometrial cancer. This includes the gene that is associated with breast cancer, BRCA1.
Some genes that affect how estrogen works in the body are also linked to endometrial cancer.
All parents, regardless of their Lynch syndrome status, have the option to get genetic testing for their children before they’re born. These tests can be done with a blood draw or a mouth swab to test the parents’ DNA. It’ll tell the doctor if the parent or the child has any of the mutations associated with Lynch syndrome or other conditions.
If one of your parents has Lynch syndrome or Cowden syndrome, you have a 50 percent chance of also having that syndrome, regardless of your biological sex. Because Lynch syndrome doesn’t cause symptoms on its own, most people don’t know they have it unless they get genetic testing. Often, it’s only discovered after someone develops cancer.
If you don’t know if you have a risk for Lynch syndrome, you can get genetic counseling to help you figure it out. A genetic counselor is someone who is educated in genetic diseases and can help you navigate your healthcare if you’re diagnosed with one. You’ll tell them if you have a family history of cancer. They can draw a family tree to see how common cancer is in your family and see if you’re likely to be at a higher genetic cancer risk.
It’s especially important to note if your family members had endometrial, colorectal, or ovarian cancer. You should also note whether they were diagnosed with cancer before they were 50 years old and whether they were diagnosed with Lynch syndrome.
If someone in your family is very young and is diagnosed with cancer, this could be a sign that Lynch syndrome runs in your family. That person may get genetic testing done to see if they have the syndrome. If so, their doctor will encourage them to reach out to their family members so they can get tested, too.
If you have cancer, your doctor may test you for genetic mutations that would have caused the cancer, especially if you develop cancer at a young age.
Endometrial cancer usually has an early warning sign of abnormal vaginal bleeding during or outside of normal menstruation. Other symptoms include pain in your pelvis or abdomen and unexplained weight loss. You should contact your doctor if you have any of these symptoms.
If you know you have Lynch syndrome, you should have cancer screening as often as is recommended by a healthcare professional. Screening is when the doctor tests you for diseases before you show any signs or symptoms of disease. Endometrial cancer typically develops far earlier in people with Lynch syndrome, and they usually haven’t started menopause. This means that abnormal bleeding is harder to identify. This could lead to a delay in diagnosis, which may mean that the cancer will be at a more advanced stage when it’s diagnosed.
Additionally, people with Lynch syndrome who have the MLH1 or MSH2 mutations have a higher risk of developing cancer than people with the MSH6 or PMS2 mutations. This means that screening recommendations can differ between these two groups.
For the general population, endometrial cancer screening is not currently recommended. People with Lynch syndrome or other genetic conditions that can cause cancer need to go in for more in-depth testing than the general population.
During an endometrial cancer check-up, you’ll likely see a gynecologist — a healthcare provider who specializes in the reproductive system. Depending on your level of cancer risk, they may recommend an endometrial biopsy, a transvaginal ultrasound, or both.
For a biopsy, a small tube is inserted into the uterus to collect a tissue sample from the endometrium (the lining of the uterus). This tissue is sent to a lab to check for signs of cancer.
A transvaginal ultrasound involves inserting a wandlike device into the vagina to create detailed images of the uterus and surrounding tissues.
Researchers have found that the risk of developing endometrial cancer before the age of 75 ranges from 13 percent to 41 percent for people who have the MSH6 and PMS2 mutations. This risk ranges from 37 percent to 49 percent for those with the MLH1 and MSH2 mutations.
For people in the lower-risk group with MSH6 and PMS2 mutations, an endometrial cancer screening is recommended every two to three years. If you have the higher-risk MLH1 and MSH2 mutations, you should talk with your doctor about getting this testing done every one or two years. Your doctor may recommend that you start getting these tests when you’re as young as 20.
For colon cancer, healthcare professionals recommend getting a yearly colonoscopy starting around age 30 for the lower-risk Lynch syndrome group (MSH6 and PMS2 mutations). For those who have the higher-risk MLH1 and MSH2 mutations, a doctor may even recommend starting colonoscopies at age 20. People without genetic conditions that cause cancer are generally advised to get colonoscopies every 10 years starting at age 45.
Doctors may also recommend an upper endoscopy every other year to check for stomach and small intestine cancer.
Cancer is far more treatable the earlier it is caught. Thankfully, cancers that are related to Lynch syndrome typically respond well to cancer treatments.
One way to prevent endometrial cancer is to get a prophylactic hysterectomy. This means that a doctor will remove your uterus and other reproductive organs before you’re diagnosed with cancer. Your doctor will have detailed conversations with you about risk factors and family planning to ensure that a hysterectomy is the right call for you.
Being diagnosed with Lynch syndrome — or any of the other genetic conditions listed above — doesn’t mean you’re guaranteed to develop cancer or face a shortened life. But staying on top of regular checkups can go a long way in helping detect cancer early and supporting long-term health.
MyEndometrialCancerTeam is a social network for people with endometrial cancer and their loved ones. On MyEndometrialCancerTeam, members come together to ask questions, give advice, and share their stories with others who understand life with endometrial cancer.
Do you or someone in your family have Lynch syndrome? Do you have a genetic condition that we didn’t discuss that caused endometrial cancer? Your team would love to hear from you. Share your thoughts and experiences by commenting below or by posting on your Activities page.
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