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Risk Management & Treatment

Inherited mutations linked to endometrial cancer

The most common inherited gene mutations associated with hereditary endometrial cancer are:

  •  ()
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  •  (Peutz-Jegher syndrome) 

A rare type of endometrial cancer, uterine serous carcinoma, has also been associated with mutations. However, this remains under investigation.

Panel tests look for mutations in many genes at the same time. Genetic panels may include new or less common genes. Some panels may include additional genes other than those listed above.

guidelines guidelines

Genetic counseling and testing for people diagnosed with colorectal or endometrial cancer

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

  • A tumor test result suggesting an inherited mutation (for example, an MSI-H or tumor). 
  • A blood relative who tested positive for an inherited mutation linked to cancer.
  • Colorectal or endometrial cancer diagnosed before age 50.
  • Diagnosed with more than one cancer.
  • A family history of one or more first or with any of the following types of cancer diagnosed before age 50 or two or more first or with any of the following cancers diagnosed at any age:
    • colorectal
    • endometrial
    • ovarian
    • gastric
    • small bowel
    • biliary tract
    • pancreatic
    • urothelial
    • brain (usually glioblastoma)

updated: 01/22/2022

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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

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 .   

updated: 02/15/2022

Last updated January 22, 2022