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Inherited Mutations
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Glossary on

Inherited mutations and endometrial cancer

Genes linked to hereditary endometrial cancer

About 1 out of 10 endometrial cancers is caused by an . The genes listed below have been linked to an increased risk for hereditary endometrial cancer. Note: this is not a complete list.  

  •  ()
  •  ()
  •  ()
  •  ()
  •  ()
  •  ()
  •  (Peutz-Jegher syndrome) 

A rare and aggressive type of endometrial cancer may be linked to mutations. However, researchers are still studying this link.

Genetic testing results may affect endometrial cancer treatment

  • People with endometrial cancer who test positive for an may benefit from targeted or to treat their cancer. 

Expert Guidelines
Expert Guidelines

The National Comprehensive Cancer Network (NCCN) has guidelines for genetic counseling and testing for people diagnosed with colorectal or endometrial cancer. People who have any of the following should speak with a genetics expert about genetic testing:

  • A tumor test result that suggests an (for example, an MSI-H or tumor). 
  • A blood relative who tested positive for an  linked to cancer.
  • Colorectal or endometrial cancer diagnosed before age 50.
  • Diagnoses of more than one cancer.
  • A family history of one or more first- or second-degree relatives with any of the following types of cancer diagnosed before age 50 or two or more first- or second-degree relatives with any of the following cancers diagnosed at any age:
    • colorectal
    • endometrial
    • ovarian
    • gastric
    • small bowel
    • biliary tract
    • pancreatic
    • urothelial
    • brain (usually glioblastoma)
  • Colorectal cancer and a personal history of polyps:
    • 10 or more adenomatous
    • 2 or more hamartomatous
    • 5 or more serrated close to the rectum

Paying For Care
Paying For Care

Insurance coverage for genetic counseling and testing

Most health plans cover genetic counseling and testing for inherited gene mutations linked to cancer in people who meet the national guidelines. The cost of testing and your out-of-pocket charges may vary based on several factors.

People who are denied coverage for genetic testing can file an appeal (FORCE has sample appeal letters). Your healthcare provider can work with your insurance company and help you file an appeal if needed. Low cost testing may be available for $250 or less. Learn more about coverage for genetic counseling and testing here

If you need information about finding an insurance plan, watch our video: Choosing Wisely: How to Pick Insurance Plans.

testing under the Affordable Care Act

Under the Affordable Care Act (ACA), insurance companies must pay for both genetic counseling and  testing with no out-of-pocket costs for women who meet certain criteria. The ACA regulations are limited to testing for and only and do not cover genetic counseling or testing in all situations. You can learn more about testing under the ACA here

Medicare and Medicaid coverage of genetic testing

Genetic counseling and testing is typically covered by Medicare for people already diagnosed with cancer who are in treatment or for whom test results may affect their care. Most state Medicaid programs cover genetic testing for and mutations for people who meet requirements, which vary by state. You can read more about Medicare and Medicaid coverage of genetic testing here.

Financial assistance or low cost genetic testing

JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify .   

Last updated August 24, 2023