Uterine cancer is a gynecologic disease that starts in the uterus and may spread. Since it can run in families, you may want a genetic test to help know your risk of developing uterine cancer.

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Uterine cancer is cancer that begins in the uterus, usually in the lining (endometrium). When cancer is in the endometrium, it’s called endometrial cancer.

People with the highest risk for uterine cancer include those who have reached menopause, have had certain hormonal or cancer treatments, or have a family history of the disease.

Here’s what you need to know about uterine cancer, what role genetics play, and what questions to ask your doctor.

Familial gynecologic cancer is a cancer of the female reproductive system that runs in families. This means that the predisposition or increased likelihood of cancer may be genetically inherited before a person is even born.

The most common types include:

That said, uterine cancer is caused by genetic factors in around 5% of all cases.

The most common type of uterine cancer is endometrial cancer.

Learn more about uterine cancer.

Genetic testing allows healthcare professionals to look for changes in genes that may increase your risk of developing cancer or other conditions.

First, your doctor or care team will collect a sample of your blood, saliva, or tissue to test. This may be through a blood test, saliva sample, or scraping cells from your cheek or skin.

This sample is then sent to a laboratory that handles genetic testing. Results may take several weeks, sometimes longer, to process. Once the results are sent to your healthcare team, you will meet to discuss the findings.

Lynch syndrome is the inherited condition most associated with uterine cancer. It’s a type of autosomal dominant hereditary cancer syndrome. This means that to inherit this syndrome, you only need to receive one affected gene from either parent during conception.

The syndrome involves the following DNA mismatch repair genes:

  • MLH1
  • MSH2
  • MSH6
  • PMS2

Having Lynch syndrome increases a person’s chances of developing endometrial cancer by 25–60%. It also increases a person’s chances of developing colon cancer and ovarian cancer and impacts between 1 in 600 to 1 in 3,000 people worldwide.

Less common genetic conditions associated with uterine cancer include Cowden syndrome and Peutz-Jeghers syndrome.

Genetic testing for cancer is a personal choice. Your doctor may suggest testing if you have a family history of uterine or other gynecologic cancers.

You may also consider testing if your medical history includes:

  • more than one first-degree relative with cancer (mother, father, sister, brother)
  • a cancer diagnosis at a young age (under 50 years old)
  • a cancer in your family linked to genetic syndromes
  • multiple cancer diagnoses in the same person
  • several relatives on one side of the family with similar cancers
  • lab results that indicate a link to a genetic cancer mutation

Your primary care doctor may refer you to a genetic counselor for more information about risk factors and reasons for testing. A genetic counselor can assist you in understanding the results of the genetic tests, along with recommending next steps based on the results.

Besides family history and individual genetic predisposition, other factors may raise someone’s risk of developing uterine cancer. Factors include:

The outlook for endometrial cancer depends on how far the cancer has spread. The more confined the cancer is to the uterus, the better the survival rate.

According to the American Cancer Society, here are the 5-year survival rates based on stage:

SEER stage5-year survival rate
Localized (confined to the uterus)96%
Regional (spread to nearby tissue or lymph nodes)72%
Distant (spread to other areas of the body, like the liver, brain, or bones)20%

This information is collected over the course of 5 years (2012–2018) and reported in the Surveillance, Epidemiology, and End Results (SEER) database.

The 5-year survival rate with all stages combined is 84%.

What happens if my test reveals I have an increased risk?

No matter your test results, you should speak with your doctor or genetic counselor.

Receiving a positive result on your test does not mean you will definitely get cancer. Your doctor may suggest certain medications, surgeries, lifestyle changes, and regular follow-up exams to reduce your risk.

What are some things that may lower my risks?

The Centers for Disease Control and Prevention (CDC) say that eating a healthy diet, exercising regularly, and maintaining a healthy BMI may reduce cancer risk. Quitting smoking and drinking alcohol may also help.

What if I do not have a family history of gynecologic cancer?

It is still possible to get cancer even if you have no family history. You are considered “average risk” if cancer does not run in your family.

Continue with regular cancer screenings as recommended by your doctor.

Uterine cancer is caused by genetic disease in a small percentage of cases. If you have a family history of uterine or associated cancers, you may want to consider genetic testing to see if a genetic condition, like Lynch syndrome, is the cause.

Genetic testing is relatively noninvasive. While it doesn’t predict with absolute certainty that you’ll get cancer, it can provide information on whether your risks are increased.

If you do receive a positive test result, you can use this information to your advantage and discuss measures to lower your cancer risk with your doctor.