What are the benefits of genetic testing for endometrial cancer genes?

Up to 15% of people diagnosed with endometrial cancer have an inherited mutation that caused their cancer. For people with endometrial cancer, genetic test results may affect your cancer treatment options, including allowing you access to newer therapies or to avoid therapies that are less likely to help you. 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 inherited mutation, you may have an increased risk for other cancers. Your test may allow relatives to learn if they are at increased or average risk for cancer. Expert guidelines outline cancer screening and prevention options for people who test positive for a mutation linked to endometrial cancer risk.

Should relatives of people with endometrial cancer get genetic 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 Lynch syndrome (e.g., colon cancer). two or more 1st- or 2nd- degree relatives who have been diagnosed with a cancer related to Lynch syndrome 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 Lynch syndrome at any age.

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Endometrial Cancer Genetic Testing

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

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What are the benefits of genetic testing for genes?

Up to 15% of people diagnosed with have an that caused their cancer.

For people with endometrial cancer, genetic test results may affect your cancer treatment options, including allowing you access to newer therapies or to avoid therapies that are less likely to help you.
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.
Your test may allow relatives to learn if they are at increased or average risk for cancer.
Expert guidelines outline cancer screening and prevention options for people who test positive for a mutation linked to endometrial cancer risk.

Guidelines for genetic testing after tumor testing

Guidelines for people with endometrial cancer and a familly history of cancer

Guidelines for relatives of people with endometrial cancer

Genes linked to hereditary endometrial cancer

Should everyone with get genetic testing?

Expert guidelines recommend genetic counseling and testing for an for all people diagnosed with at any age. A genetics expert can help you understand genetic testing, guide you through the process, and explain what the results mean for you and your relatives.

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 . For this reason, people with dMMR/MSI-High cancers are recommended to have genetic counseling and testing for .

Read more about this type of testing on our biomarker page.

survivors who had testing in the past may benefit from additional genetic counseling and testing

People with may benefit from additional genetic counseling and expanded genetic testing if they had genetic testing in the past, tested negative, 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.

Should relatives of people with get genetic 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 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.

Which genes are linked to ?

Mutations in the following genes have been linked to increased risk for .

Syndrome (if applicable)	Genes	Notes
	, , , ,	is the most common inherited syndrome linked to . People with who develop are most likely to have tumors that are or . People with have an increased risk for other types of cancers, too.
Hamartoma Tumor syndrome		People with Hamartoma Tumor syndrome have an increased risk for other types of cancers.
		Peutz-Jegher syndrome have an increased risk for other types of cancer.
Hereditary breast and ovarian cancer syndrome ()		has been linked to a rare but aggressive form of . The increase in risk for these cancers is very small. Researchers are continuing to study this link.

How do I get genetic testing for hereditary ?

Genetic testing is a type of blood or saliva test performed on blood, saliva or tissue. The sample is collected and sent to a genetic testing lab. A doctor or nurse with expertise in genetics or a genetic counselor can help you get genetic testing. You can read more about the process here.