Lynch Syndrome Genetic Testing
Lynch Syndrome is the most common cause of hereditary colorectal cancer.¹ It raises your chance of developing colorectal, uterine, and several other cancers, often before age 50.¹ About 1 in 279 people carry a genetic mutation linked to Lynch Syndrome.² Lynch Syndrome genetic testing checks for these mutations from home, so you and your doctor can plan earlier checkups and take steps to lower your risk.³
What Is Lynch Syndrome?
Lynch Syndrome happens when someone inherits a mutation in one of the genes that normally fix mistakes made when DNA is copied.¹ When these genes don't work properly, the body is less able to protect itself from certain cancers.¹
People with Lynch Syndrome are more likely to develop colorectal and uterine (endometrial) cancer.¹ The condition is also linked to cancers of the ovaries, stomach, small intestine, urinary tract, biliary tract, pancreas, prostate, brain, and some types of skin.¹ Which cancers you're most likely to develop depends on which gene has the mutation.⁴
Knowing your status makes a real difference. With regular colonoscopies, doctors can find and remove polyps before they turn into cancer.⁵
Genes Linked to Lynch Syndrome
Lynch Syndrome can be caused by a mutation in any of five genes: MLH1, MSH2, MSH6, PMS2, and EPCAM.¹ The hereditary cancer test available through jscreen checks all five. Each gene carries a different level of cancer risk, so knowing which gene is involved helps your doctor build the right plan for you.⁴ A higher chance of cancer isn't a cancer diagnosis, and you have options. Getting a colonoscopy every 1 to 2 years has been shown to lower both the number of colorectal cancer diagnoses and deaths in people with Lynch Syndrome.²
People with an MLH1 mutation have an estimated 41% to 68% chance of developing colorectal cancer.² For women, the chance of uterine cancer has been estimated at about 44%.²
An MSH2 mutation carries an estimated 48% to 68% chance of colorectal cancer.² Women with an MSH2 mutation have up to a 71% chance of developing uterine cancer.² In the United States, one specific MSH2 mutation, known as the American Founder Mutation, has been estimated to account for as much as 20% of the mutations that occur in this gene.²
MSH6 mutations carry an estimated 12 to 22% chance of developing colorectal cancer. Cancer tends to appear at a later age than with MLH1 or MSH2.² For women, the chance of uterine cancer is about 26% by age 70.²
PMS2 mutations are the most commonly carried Lynch Syndrome causing gene changes.² By age 70, the chance of colorectal cancer is about 20% for men and 15% for women, and the chance of uterine cancer is about 15% in women.²
About 1% of people with Lynch Syndrome have a mutation in EPCAM, which switches off the MSH2 gene.² In one European study, people with an EPCAM mutation had about a 75% chance of colorectal cancer by age 70, with an average age at diagnosis of 43.² The chance of uterine cancer was about 12%.²
Why Lynch Syndrome Genetic Testing Matters
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Knowing you have Lynch Syndrome lets you and your doctor act early. If you have Lynch Syndrome, you'll likely start colonoscopies at a younger age and have them more often than most people.⁵ The CDC recommends a colonoscopy every 1 to 2 years, starting 2 to 5 years before the age of the earliest colorectal cancer diagnosis in your family.⁵ Your doctor can also talk with you about surveillance options for uterine, ovarian, stomach, and other cancers linked to Lynch Syndrome.⁵
Your results can help your family, too. If you test positive, your relatives should explore being tested for the same genetic mutation, so they, along with their doctors, can make more informed healthcare decisions.³
Your Odds of Having a Lynch Syndrome Genetic Mutation
About 1 in 279 people carry a genetic mutation linked to Lynch Syndrome.² Here's how often mutations in each gene occur:
- PMS2: about 1 in 714 people²
- MSH6: about 1 in 758 people²
- MLH1: about 1 in 1,946 people²
- MSH2: about 1 in 2,841 people²
Lynch Syndrome can affect people of any background. These mutations occur at similar rates in populations around the world.² Some communities do have specific founder mutations, which are mutations passed down from shared ancestors. These include two common MLH1 mutations in Finland, founder mutations in several European countries, and the American Founder Mutation in MSH2 in the United States.² People of Ashkenazi Jewish descent also have known founder mutations in MSH2 and MSH6.⁶
Who Should Consider Testing
Genetic testing for Lynch Syndrome is especially worth considering if any of these apply to you:
A Relative With Lynch Syndrome
If a family member has tested positive for Lynch Syndrome, you can be tested for the same genetic mutation.³ Each child of a parent with Lynch Syndrome has a 50% chance of inheriting it.²
Several Relatives With Lynch Syndrome Cancers
Testing is often recommended when several members of your family have had cancers related to Lynch Syndrome, such as colorectal or uterine cancer.³ Lynch Syndrome can be passed down through either your mother's or your father's side of the family.² Learn more about hereditary colon cancer and hereditary uterine cancer.
A Personal History of Colorectal or Uterine Cancer
Testing is usually recommended if you've had colorectal cancer, uterine cancer before age 50, or more than one type of cancer.³ It's also recommended if testing on your tumor showed abnormal results that may be consistent with Lynch Syndrome findings.³
Cancer at a Younger Age in Your Family
People with Lynch Syndrome are more likely to develop cancer before age 50.¹ If relatives were diagnosed with colorectal or uterine cancer at a younger age than usual, share that with a genetic counselor.
Ashkenazi Jewish Ancestry
Founder mutations in MSH2 and MSH6 have been found in people of Ashkenazi Jewish descent.⁶ Learn more about Jewish genetic testing and the hereditary cancer genes that are more common in Jewish families.
How At-Home Genetic Testing Works
Order and register
Collect your sample
Return your sample
Get your results
Talk to a genetic counselor
Costs and Insurance Coverage
Insurance Billing
Self-Pay Option
Understanding Your Results
Positive (Carrier)
A positive result means you have a genetic mutation that causes Lynch Syndrome. It doesn’t mean you have cancer. Medical options are available to lower your cancer risk or try to detect cancer early.³ A genetic counselor can walk you through what your results mean for you and help you share the news with relatives, who can be tested for the same mutation.³
Negative Result
A negative result means no genetic mutation linked to Lynch Syndrome was found in the genes tested. It doesn’t remove your cancer risk entirely. Your family history still matters, and based on it, your doctor may still recommend earlier or more frequent cancer screenings.
If You and Your Partner Are Both Carriers
In some cases, a child can inherit a mutation in the same Lynch Syndrome gene from both parents. This is called constitutional mismatch repair deficiency (CMMRD).² If you and your partner both carry a mutation in the same gene, a board-certified genetic counselor can help you understand what that means for your family planning.
Take Charge of Your Cancer Risk
Frequently Asked Questions
What Is Lynch Syndrome Genetic Testing?
Lynch Syndrome genetic testing is a test that looks for inherited changes in the genes linked to Lynch Syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM. It’s usually done as part of a larger hereditary cancer testing panel that looks at many genes at once.³
With jscreen, Lynch Syndrome genetic testing is included in our hereditary cancer test. You collect a sample at home and mail it back. Your results come with access to a genetic counselor, who can explain what they mean for you and your family.
What Are Other Names for Lynch Syndrome?
Lynch Syndrome is also known as hereditary nonpolyposis colorectal cancer, or HNPCC.¹
What Age Can You Be Tested for Lynch Syndrome?
The hereditary cancer test through jscreen is available starting at age 18, although we typically recommend waiting until around age 25, depending on your family history and other risk factors. If you have a strong family history of early cancer, talk with a genetic counselor about the right timing for you.
Do You Need a Blood Test for Lynch Syndrome?
No. Genetic testing for Lynch Syndrome can be done with a sample of saliva or with cells from inside your cheek.⁴ With jscreen, you provide a simple saliva sample at home.
How Much Does Lynch Syndrome Testing Cost?
Most commercial insurance plans cover genetic testing for Lynch Syndrome for people who meet medical criteria as part of a broader hereditary cancer testing panel. People with Ashkenazi Jewish heritage generally meet insurance criteria for hereditary cancer testing. Your exact cost depends on your plan, deductible, and copay. Once you register, your jscreen care navigator will work with you on any questions you may have about your specific plan. Many people pay $0 out of pocket for the lab test.
Will Genetic Testing Affect My Health Insurance or Job?
The Genetic Information Nondiscrimination Act (GINA) helps protect people in the United States from being treated unfairly based on their genetic information in health insurance and employment.³ GINA does not cover long-term care, disability, or life insurance.³
Can Aspirin Lower Cancer Risk for People With Lynch Syndrome?
In a large randomized trial, people with Lynch Syndrome, the most common hereditary cancer syndrome affecting the colon, who took aspirin every day had lower rates of colorectal cancer.² A newer trial found that a low daily dose may work about as well as a high dose, with fewer side effects. Aspirin is one option to talk about with your doctor for lowering colorectal cancer risk.⁵ Like any medicine, it has risks as well as benefits, so talk with your doctor before you start taking it.
References
- About Lynch Syndrome. Centers for Disease Control and Prevention. Updated April 13, 2026. Accessed October 21, 2026.
https://www.cdc.gov/colorectal-cancer-hereditary/about/lynch-syndrome.html - PDQ Cancer Genetics Editorial Board. Genetics of Colorectal Cancer (PDQ®): Health Professional Version. National Cancer Institute. Updated March 21, 2025. Accessed October 21, 2026. https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq
- Genetic Testing for Lynch Syndrome. Centers for Disease Control and Prevention. Updated April 13, 2026. Accessed October 21, 2026.
https://www.cdc.gov/colorectal-cancer-hereditary/testing/index.html - Lynch Syndrome and HNPCC. Cleveland Clinic. Last updated September 12, 2022. Accessed October 21, 2026.
https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome-and-hnpcc - Managing Risk for Cancers Related to Lynch Syndrome. Centers for Disease Control and Prevention. Updated April 13, 2026. Accessed October 21, 2026.
https://www.cdc.gov/colorectal-cancer-hereditary/managing-risk/index.html - Matis T, Domecq C, Hamel N, et al. Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy. BJC Rep. 2024;2:17. doi:10.1038/s44276-024-00045-x. https://www.nature.com/articles/s44276-024-00045-x