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Study: Genes, genetic counseling and disparities in endometrial cancer


Endometrial cancer is on the rise, and it can run in families. Genetic counseling has benefits for people with cancer and their family members. However, Black women with endometrial cancer more often have worse outcomes than white women.  Black women with endometrial cancer who test positive for an inherited mutation are less likely to see a genetic counselor. Given these disparities, Black women would benefit from better access to and referrals for genetic counseling. (Posted 12/14/23)

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Genes, genetic counseling and disparities in endometrial cancer
Glossary on


Most relevant for: People diagnosed with endometrial cancer.
It may also be relevant for:

  • people with a family history of cancer
  • people with a genetic mutation linked to cancer risk

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Relevance Rating Details

What is this study about?

This study looks at the racial and ethnic differences in genetics and genetic counseling rates in a group of people with endometrial cancer to better understand disparities in outcomes. The authors tested tissue samples from a racially and ethnically diverse population of people with endometrial cancer. Their goal was to see who tested positive for an and whether they received genetic counseling.

Why is this study important?

Endometrial cancer is becoming more common and has few effective treatment options. Black women with endometrial cancer are two to three times less likely to survive than white women. The reasons for this are not fully known. Black women are also more likely to develop endometrial cancers that are harder to treat.

Around five to 15 percent of people with endometrial cancer test positive for an linked to cancer. The most common gene mutations associated with endometrial cancer are the five genes that cause (, , , and ). Genetic counseling is recommended for people with cancer who test positive for an . Genetic counseling can help people understand their disease, their risk of developing other cancers and what genetic test results might mean for their relatives.

This study looked at inherited mutations in endometrial cancer: how common they are among people of different races and ethnicities, and who receives genetic counseling after testing positive. Prior research showed that Black American people with cancer are less likely to receive genetic counseling and testing. This study is the first to look specifically at race and ethnicity and inherited mutations among people with endometrial cancer.

This study used genetic testing data to better understand endometrial cancer disparities. The research team tested 1,625 people with endometrial cancer for inherited mutations linked to cancer. They looked at genetic testing results and rates of genetic counseling by self-reported race and ethnicity and ancestry using these categories (sample sizes are shown in parentheses):

  • Non-Hispanic white participants (1,129; 69 %))
    • (202; 12 %)
    • Not (927; 57%)
  • Non-White participants (419; 26%)
    • Black (171; 10%)
    • Asian (124; 8%)
    • Hispanic (124; 8%)
  • Participants not reporting race/ethnicity or ancestry (77; 5%)

The key findings were:

  • 216 (13%) of participants tested positive for an .
    • On average, people with an were diagnosed with endometrial cancer at younger ages than people without an .
    • The most common inherited mutations were in four of five genes that are associated with (, , , ) and or BRCA2:
      • 39 (2.4 %) had a mutation in one of these four genes.
      • 20 (1.2 %) had a mutation in either or .
      • In about half of those who tested positive for an , their tumor test result was not high (MSI-H). In other words, looking only at tumors for signs of tumor instability may miss half of those with hereditary cancer; consideration of personal and family cancer history is also important.
  • The frequency of inherited mutations was different between groups based on self-reported race, ethnicity or ancestry:
    • Black participants  (7%).
    • Asian participants (12%)
    • Non-Hispanic white participants (14%)
    • Hispanic participants (12%)
    • participants (20%)
  • The frequency of IV () disease differed between groups; Black participants were more likely to be diagnosed with IV  () disease:
    • Black participants (21%).
    • Asian participants (14%)
    • Non-Hispanic white participants (11%)
    • Hispanic participants (11%)
    • participants (13%).
  • Black participants were twice as likely to be diagnosed with harder-to-treat tumor types:
    • 33% of Black participants had serous endometrial cancer
    • 10-15% of non-Black participants had serous endometrial cancer
  • The use of genetic counseling overall was high (89%) but Black participants had the lowest rates of genetic counseling (75%).

What does this mean for me?

Experts recommend tumor testing of all endometrial cancers to look for abnormalities known as MSI-H (“ high") or "" ( or ). People with are more likely to have cancers with these abnormalities.

Genetic testing is recommended for some people with endometrial cancer based on tumor test results and personal and family history of cancer. Test results may help determine treatment and provide information that can be helpful to family members. A genetic counselor can help you understand how cancer runs in families, how to talk with family members about cancer risk and the next steps for you and your family.

Some of the genes involved in endometrial cancer can also increase the risk of other cancers, including breast, colorectal, ovarian, pancreatic, , skin and stomach cancers. If any of these cancers have developed in your family, ask your doctor if genetic testing or counseling is recommended for you.

It can be difficult to talk with family members about cancer. Read more about why these conversations are important and how to get started here.


Liu YL, Gordhandas S, Arora K, et al., Pathogenic germline variants in patients with endometrial cancer of diverse ancestry. Cancer; 2023; 1-12. Published online October 27, 2023.

Disclosure: FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

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posted 12/14/23

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • For people with endometrial cancer:
    • Do you recommend genetic testing? Why or why not?
    • Have you tested my cancer for genetic mutations? If yes, what are the results of these tests?
  • For people who are at increased risk of endometrial cancer:
    • Which cancer screenings do you recommend for me—at what age and how often?
    • Can I get tested for inherited mutations linked to cancer because my family member(s) had cancer?


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

Updated: 11/12/2023

Peer Support
Peer Support

The following organizations offer peer support services for people with or at high risk for endometrial cancer:

Updated: 08/28/2022

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselors website has a search tool for finding a genetic counselor by specialty and location or via telehealth. 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • Gene-Screen is a third-party genetic counseling group that can help educate, support and order testing for patients and their families. 
  • JScreen is a national program from Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 

Related experts

Genetics clinics

Other ways to find experts

Updated: 07/21/2023

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