Genetic Testing for Endometrial (Uterine) Cancer
The Genetic Link to Endometrial (Uterine) Cancer
Endometrial cancer, or uterine cancer, is the most common gynecologic cancer in the United States, and a significant percentage of cases trace back to an inherited gene change. When a genetic mutation is contributory, cancer tends to develop at younger ages than in the general population and can be accompanied by a personal or family history of colon, ovarian, stomach, or other cancers. Genetic testing for endometrial cancer looks at the genes most closely tied to the disease for any harmful changes, so you and your doctor can plan monitoring, prevention, and/or treatment accordingly.
Understand Your Hereditary Risk: Why Endometrial Genetic Testing is Important
Up to 15%¹ of those diagnosed with endometrial cancer carry an inherited gene change that increases their risk of developing the disease.
Current guidelines recommend that every newly diagnosed endometrial cancer be evaluated for signs of a hereditary cause, which may begin with a genetic test of the tumor cells themselves for certain features that may point to an underlying inherited gene mutation, regardless of the patient's age or family history.² For anyone who has not had a cancer previously, a genetic test designed to detect inherited mutations that increase the risk for endometrial cancer flag inherited risks in advance, creating the opportunity for earlier monitoring.
The Genetic Syndromes Behind Hereditary Endometrial Cancer
Many hereditary uterine cancers trace back to one of two well studied genetic syndromes. Both can be identified through cancer genetic testing designed to detect risk of endometrial cancer, and each comes with its own approach to monitoring and prevention.
Lynch Syndrome
Lynch syndrome is the leading cause of hereditary endometrial cancer and is caused by an inherited change in one of the DNA mismatch repair genes, most often MLH1, MSH2, MSH6, PMS2, or EPCAM. It's thought to be behind about 3% of all endometrial cancer cases.³
Cowden Syndrome
Cowden syndrome is better known for raising the risk of breast and thyroid cancer, but it also raises the chance of developing endometrial cancer to nearly 28%.⁴
Is Genetic Testing for Uterine Cancer Right for You?
Several factors in your personal and/or family history may point to an inherited risk for endometrial cancer. Genetic testing may be recommended if any of the following apply:
Family History of Cancer-Related Gene Variant(s), and/or Lynch Syndrome
Your risk may be higher if a close blood relative has a known cancer-related gene variant, if your family has a history of Lynch syndrome, a hereditary condition linked to both uterine (endometrial) and colorectal cancers, or if your family has a pattern of colorectal, uterine (endometrial), or related cancers across multiple generations.5
You Have a Personal History of Uterine Cancer
Your risk may also be higher if you've personally had uterine cancer, especially at a younger age or alongside other Lynch syndrome-related cancers. Having more than one of these cancers over your lifetime, or being diagnosed before age 50, can be an especially important signal worth discussing with a genetic counselor.5
Your Tumor Testing Results Showed a Possible Inherited Link
Your risk may also be signaled by tumor testing itself. If a uterine tumor was tested and found to be "mismatch repair deficient" (your doctor may call this dMMR or note MSI-high results), this can point to an inherited condition, and genetic testing is recommended to confirm it. It also matters if tumor testing found a gene variant that would be significant for you and your family if it turns out to also be present in your inherited (germline) DNA.6
You Tested Before, But Not Fully
If you had limited genetic testing in the past (like testing for just one gene) and are interested in more comprehensive testing now, it may be worth a conversation. Testing can guide your care as results can help inform decisions about surgery or ongoing medical management, particularly around reducing future cancer risk.5
Key Genes Linked to Hereditary Endometrial Cancer
The gene table shows a sampling of all of the genes included in the comprehensive hereditary cancer test panel, including those most strongly tied to inherited endometrial cancer risk.
Results are reviewed by board certified genetic counselors.
Another of the two Lynch syndrome genes most strongly linked to endometrial cancer. Changes in MLH1 raise the chance of developing endometrial cancer to about 34% to 54%.³
Another Lynch syndromeassociated with endometrial cancer risk. Changes in MSH2 raise the chance of developing endometrial cancer to about 21% to 57%.³
A Lynch syndrome gene where endometrial cancer, rather than colon cancer, is often the first sign of the syndrome. According to some estimates, the risk for endometrial cancer with an MSH6 mutation is even higher than the risk of developing colon cancer, at about 16% to 49%.³
The Lynch syndrome gene with the lowest associated cancer chance among the four mismatch repair genes, though still clinically meaningful. Changes in PMS2 are linked to a chance of developing endometrial cancer as high as 26%.6
Not a mismatch repair gene itself, but a mutation in the EPCAM gene can silence activity in the nearby MSH2 gene and cause Lynch syndrome. Endometrial cancer risk with an EPCAM mutation is similar to that seen in MSH2 carriers.³
The gene responsible for Cowden syndrome. Changes in PTEN raise the chance of developing endometrial cancer as high as 28%.⁴
Simple, from Home to Results
Order Your Kit
Register online and receive a saliva collection kit shipped directly to your home within a few days.
Collect Your Sample
Provide a simple saliva sample at home, following the easy step-by-step instructions included in your kit.
Lab Analysis
Your sample is analyzed at a CLIA-accredited laboratory using advanced sequencing technology across the full gene panel.
Receive Results
Receive your results within 3 to 4 weeks. You can choose to schedule a complimentary consultation with a certified genetic counselor to review your findings.
Costs and Insurance Coverage
Insurance Billing
Self-Pay Option
Endometrial cancer often runs in families more than people realize.
References
1. Genetic Testing: Endometrial Cancer. FORCE (Facing Our Risk of Cancer Empowered), October 2025. https://www.facingourrisk.org/info/risk-management-and-treatment/cancer-treatment/by-cancer-type/endometrial/inherited-mutations
2. Hereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions. PMC, 2025. https://pmc.ncbi.nlm.nih.gov/articles/PMC12897599/
3. Updates in gynecologic care for individuals with Lynch syndrome. Frontiers in Oncology, February 2023. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014618/
4. PTEN Hamartoma Tumor Syndrome. GeneReviews®, NCBI Bookshelf, August 2025. https://www.ncbi.nlm.nih.gov/books/NBK1488/
5. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, Esophageal, and Gastric. Version 1.2026. National Comprehensive Cancer Network; 2026. Accessed August 20, 2026. https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceeg.pdf
6. Lynch Syndrome in Women Less Than 50 Years of Age With Endometrial Cancer. PMC, 2013. https://pmc.ncbi.nlm.nih.gov/articles/PMC3665081/