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Endometrial Cancer: Genetic Testing for Inherited Mutations

Learn about genetic testing and the genes associated with hereditary endometrial cancer.

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Risk Management & Treatment > Cancer Treatment > By Cancer Type > Endometrial > Inherited Mutations

Overview Endometrial Cancer: Stages and Subtypes Endometrial Cancer: Standard Therapy Endometrial Cancer: Biomarker Testing Endometrial Cancer: Targeted and Immunotherapies Endometrial Cancer: Genetic Testing for Inherited Mutations

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Genetic Testing for People Diagnosed with Endometrial Cancer

This section covers the following information about genetic testing in people diagnosed with endometrial cancer:

Guidelines for genetic testing after tumor testing	Genes linked to hereditary endometrial cancer
Additional guidelines for people with endometrial cancer

People with endometrial cancer should ask about genetic testing

Endometrial cancer survivors and those in treatment should speak with a genetics expert to decide if genetic testing is right for them. About 10% of people diagnosed with endometrial cancer have an that caused their cancer.

Genetic test results may affect your cancer treatment and prognosis.

Some genetic test results can help guide treatment decisions. People with endometrial cancer who test positive for an may benefit from targeted or to treat their cancer.

Genetic test results may help you and your relatives understand the risk for cancer and take action to stay healthy.

If you test positive for an , you may have an increased risk for other cancers.
Expert guidelines outline cancer screening and prevention options for people at high risk for cancer due to an .

Guidelines for tumor testing followed by genetic testing

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 .

Additional guidelines for genetic testing in people diagnosed with endometrial cancer

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.

Other endometrial cancer survivors who may benefit from genetic counseling and testing

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.

Relatives of people with endometrial cancer may also benefit from testing.

Genetic counseling and testing is also recommended for anyone with the following family history of endometrial cancer:

one or more 1st-degree relatives who has been diagnosed with endometrial cancer before age 50.
one or more 1st-degree relatives wo have been diagnosed with endometrial cancer and a second cancer related to (e.g., colon cancer).
two or more 1st- or 2nd- degree relatives who have been diagnosed with a cancer related to with at least one of the cancers diagnosed before age 50.
three or more 1st- or 2nd- degree relatives who have been diagnosed with a cancer related to at any age.

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	EPCAM, MLH1, MSH2, MSH6, PMS2	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.
PTEN Hamartoma Tumor syndrome	PTEN	People with PTEN Hamartoma Tumor syndrome have an increased risk for other types of cancers.
Peutz-Jeghers syndrome	STK11	Peutz-Jegher syndrome have an increased risk for other types of cancer.
Hereditary breast and ovarian cancer syndrome (HBOC)	BRCA1, BRCA2	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.