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.
Uterine cancer is cancer that begins in the uterus,
People with the
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
- hereditary breast and ovarian cancer (HBOC) syndrome
- hereditary nonpolyposis colorectal cancer syndrome
That said, uterine cancer is caused by genetic factors in around
The
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
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
- EPCAM
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:
- being age 50 and older
- having obesity
- a history of estrogen replacement therapy (without progesterone)
- a history of infertility or amenorrhea before menopause
- prior use of tamoxifen to treat breast cancer
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
| SEER stage | 5-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
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
What are some things that may lower my risks?
The
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 “
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.