Biomarker Testing and Genetic Testing for People with Endometrial Cancer

This section covers the following topics:

• Biomarker testing for treatment selection 
• Genetic testing for inherited mutations

Biomarker tests

Biomarker tests look at samples of blood, tumor or other tissue for changes or abnormalities caused by cancer. These tests can give doctors clues about the cancer, including:

• how fast the cancer is growing
• which treatments are most likely to work
• whether or not the cancer is responding to treatment or growing
• whether or not the cancer has come back after remission

Biomarkers for treatment selection

Biomarker tests may be used to select treatments, and help patients avoid side effects from treatments that will not work for them. Biomarker tests used to select a specific treatment are sometimes called "companion diagnostic tests." These tests may be done on tumor tissue or (in many cases) on blood. See our Biomarker Testing section for more information. 

• Experts recommend testing all endometrial cancers for an abnormality known as MSI-H (“microsatellite instability high") also known as "mismatch repair deficiency" (dMMR or MMR-D).
  • MSI-high cancers are common in people with a Lynch syndrome gene mutation. People with advanced or metastatic MSI-high endometrial cancer may respond well to a type of immunotherapy known as an immune checkpoint inhibitor. 
  • People with advanced, recurrent endometrial cancer that is not MSI-H, may benefit from a combination of the targeted therapy, Lenvima (lenvatinib) and the immunotherapy agent Keytruda.
• Examples of additional biomarker tests used in endometrial cancer include:
  • A rare type of endometrial cancer—known as a uterine sarcoma—may have a genetic change called an NTRK fusion, which can be found on tumor testing. Endometrial with an NTRK fusion may benefit from the targeted therapy Vitrakvi (larotrectinib).
  • Estrogen receptor testing is used for advanced and recurrent endometrial cancers. 
  • HER2 testing is used to find advanced or recurrent endometrial cancers that may respond to drugs that target the HER2 protein.
  • Additional tumor biomarker testing may help identify people who are elegible for certain clinical trials. 

Genetic testing for inherited mutations

About 10 percent of endometrial cancers are caused by an inherited mutation. Genetic testing can help people with endometrial cancer and their relatives learn more about their cancer risks and medical options. 

Who should get genetic testing?

Genetic testing for hereditary endometrial cancer is recommended in the following situations:

• endometrial cancer diagnosed at age 50 or younger
• dMMR or MSI-H endometrial cancer
• personal or family history of other cancers

See our section on genetic testing for a more complete list of who should consider genetic testing.