Endometrial Cancer: Inherited Mutations
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Sign Up for FORCE NewslettersGenetic Testing for People Diagnosed with Endometrial Cancer
This section covers the following information about genetic testing in people diagnosed with endometrial cancer:
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People with endometrial cancer should ask about genetic testing
About 10 percent of people diagnosed with endometrial cancer have an that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an linked to cancer. Speak with an expert about genetic testing for the following situations.
Experts recommend tumor testing all endometrial cancers to look for biomarkers known as "" () or microsatellite instability-High () at the time of diagnosis. These two related abnormalities are commonly found in the cancers of people with .
- People with dMMR/MSI-High cancers are recommended to have genetic counseling and testing for .
- dMMR/MSI-High cancers can occur in people who do not have . Not all people with cancers will test positive for a mutation.
- People with inherited mutations who develop endometrial may have cancers that do not have these biomarkers.
- People with cancers that are not may still benefit from genetic counseling and testing.
- Cancers with these biomarkers tend to respond well to treatment with a certain type of treatment known as .
Genetic counseling and testing for an is also recommended for people diagnosed with endometrial cancer who have any of the following:
- a blood relative with a known in a cancer gene.
- diagnosed before age 50.
- diagnosed with another type of cancer seen in people with , including colorectal, ovarian, pancreatic, stomach or other Lynch syndrome-related cancer.
- have a close relative with a Lynch syndrome-related cancer diagnosed under age 50.
- have two or more relatives with a Lynch syndrome-related cancer diagnosed at any age.
People with endometrial cancer may benefit from additional genetic counseling and expanded genetic testing if they had genetic testing in the past, tested negative, and:
- their situation matches any of the other guidelines above, and
- they had a test that only looked for one or a few genes, or
- they had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.
All endometrial cancer survivors and those in treatment should speak with a genetics expert to decide if genetic testing is right for them.
Genes linked to endometrial cancer
Mutations in the following genes have been linked to increased risk for endometrial cancer.
Syndrome (if applicable) |
Genes |
Notes |
Lynch syndrome |
Lynch syndrome is the most common inherited syndrome linked to endometrial cancer. People with Lynch syndrome who develop endometrial cancer are most likely to have tumors that are MSI-H or dMMR. People with Lynch syndrome have an increased risk for other types of cancers, too. |
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PTEN Hamartoma Tumor syndrome |
People with PTEN Hamartoma Tumor syndrome have an increased risk for other types of cancers. |
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Peutz-Jeghers syndrome |
Peutz-Jegher syndrome have an increased risk for other types of cancer. |
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Hereditary breast and ovarian cancer syndrome (HBOC) |
BRCA1 and BRCA2 have been linked to a rare but aggressive form of endometrial cancer. The increase in risk for these cancers is very small. Researchers are continuing to study this link. |