What is Lynch Syndrome?

What is Lynch Syndrome?

About 1 in 500 have Lynch Syndrome in the US


1 in 500 Americans

The Healthy Nevada Project research team is looking at the occurrence of important inherited genetic mutations in our population that increase the risk of certain diseases. These include Familial Hypercholesterolemia, BRCA1/2 mutations and Lynch Syndrome. Research and communication with Healthy Nevada Participants about these risks is starting in the summer of 2018. Early detection of disease causing mutations in the genes associated with these conditions has the power to improve health outcomes in the Healthy Nevada Project participants. The Healthy Nevada Project is excited to roll out more community outreach research projects that benefit the community that has helped this project prosper!

What is Lynch Syndrome?

Lynch Syndrome is a genetic condition that raises your risk of colon cancer, endometrial cancer, and other cancers(1). It is also known as hereditary nonpolyposis colorectal cancer (HNPCC)(2). People with Lynch Syndrome are also susceptible to colon polyps at a younger age(3).

How does one get Lynch Syndrome?

Lynch Syndrome is a genetic disorder, therefore you cannot contract it from another person. To inherit Lynch Syndrome, only one of your biological parents needs to pass down a mutation to you. It is important to remember that Lynch Syndrome just increases an individual’s risk of cancer, it is not guaranteeing that you will get cancer.

What is the likelihood I have Lynch Syndrome?

Out of the ~140,000 new cases of colorectal cancer in the U.S each year, approximately 3-5% or 4,200-7000 cases are caused by Lynch Syndrome (4). Broad population screening and detection of people with Lynch Syndrome can lead to improved outcomes, especially for those unaware of family history or family genetics.

What is the genetic test looking for when testing for lynch syndrome?

Are there physical symptoms of Lynch Syndrome that I should be looking out for?

Lynch Syndrome has no physical symptoms but there are other things that people with Lynch Syndrome may experience(1):

  • Colon Cancer at a young age, especially if before age 50(1)
  • A family history of colon or endometrial (cancer of the uterus) cancer at young ages(1)
  • A family history of other related cancers(1)

How is Lynch Syndrome diagnosed?

Lynch Syndrome is diagnosed through a variety of methods that include:

  • Your physician asking about your family history of colon and other related cancers(1)
  • Tumor Testing- if you or a family member have had a tumor removed, additional testing can be done on it to confirm a diagnosis of Lynch Syndrome(1)
  • Genetic Testing- Healthy Nevada Project participants’ DNA from your saliva sample is used to conduct the genetic testing for pathogenic mutations for not only Lynch Syndrome but FH and BRCA1/2.

How will I know if my genetic data has a possible Lynch Syndrome mutation?

When we have your genetic results the research team at the Healthy Nevada Project will analyze the genetic data to see if you have any pathogenic mutations in the MLH1, MSH2, MSH63 genes. If you consented to be contacted, we will reach out to you with your results and help guide you through the next steps such as working with your physician or a genetic counselor. For those identified to have a possible mutation we will continue to follow up and confirm that you have the necessary information to provide to a primary care provider.

What should I do if I have a known Lynch Syndrome mutation?

If your results show a pathogenic mutation on any of the genes associated with Lynch syndrome it means you have an increased risk of certain cancers. A genetic mutation does not automatically mean you have cancer or will get cancer, but it means you have a higher risk of colorectal cancers, as well as other cancers(1). If you receive your results it is important to talk to your physician about your family history of cancer and the next steps that should be taken.

Why is the Healthy Nevada Project looking at Lynch Syndrome?

The CDC Office of Public Health Genomics has provided the public with a list of Genomic Tests by Level of Evidence, ranging from Tier 1 to Tier 3. Tier 1 results have been shown to be important enough that both the patient and your doctor should know the results. Mutations associated with Lynch Syndrome are considered tier 1 results and appropriate action should be taken by both the patient and doctor to prevent the premature onset of disease.

Helpful Links

[1] MAYO Clinic: Lynch Syndrome

[2] NIH-Genetic and Rare Diseases Information Center: Lynch Syndrome

[3] NIH- Genetics Home Reference: Lynch Syndrome

[4] Heather Hampel and Albert de la Chapelle, The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends justify the means? (Cancer Prevention Research 2011)

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