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March 25, 2024

What to Know About Lynch Syndrome

ThedaCare Genetic Counselor Explains the Link to Colorectal, Other Cancers

While it is impossible to change our genes, with knowledge comes power. In the case of Lynch syndrome, a genetic condition that can increase a person’s risk for developing colorectal and other types of cancer, that’s especially true.

Colorectal Cancer Awareness Month offers a reminder for everyone to examine their risk for colorectal cancer and to explore options for screening, as well as genetic testing, when recommended.

Lynch syndrome puts a person at a higher risk of developing colorectal, uterine, and ovarian cancer, explained ThedaCare Genetic Counselor, Emma Herlache. It’s also associated with other cancers, including kidney, stomach, bladder, brain, prostate and pancreatic.

“Having Lynch syndrome is not a guarantee that a person will get a cancer,” explained Herlache. “What we do know is that the chances are higher.”

Genetic testing is the only way to confirm whether someone has Lynch syndrome.

“What I tell my patients is in genetics, we are the ‘why’ people,” Herlache said. “We’re trying to help explain why a person might have been diagnosed with cancer very young, or why there is a high prevalence of cancer within a family. The goal is to use that information to be proactive for the future.”

Pursuing Genetic Testing

People who are diagnosed with colon cancer or another Lynch syndrome-related cancer before age 50 should consider genetic testing for Lynch syndrome, Herlache said. Some guidelines also suggest anyone with colorectal cancer, diagnosed at any age, could consider testing for Lynch syndrome.

Others who should consider testing include:

  • People who have a close family member diagnosed before age 50 with a Lynch syndrome-related cancer
  • People who have had two Lynch syndrome-related cancers
  • People who have three or more family members with a Lynch syndrome-related cancer (at any age)

“Confirming whether someone has Lynch syndrome can help individuals and their families in several ways,” Herlache said.

First, it can impact the type of treatment people receive, as those who have Lynch syndrome may respond better to immunotherapy than those who don’t.

Second, because Lynch syndrome increases the risk for multiple types of cancer, making the diagnosis can help guide what kinds of other cancer screenings a person may need.

Third, if there is a genetic risk factor in a patient, then it has implications for their family members as well. A positive genetic test result opens the opportunity for other family members to be tested. Herlache explained that if those family members have the same inherited risk factor, they may be eligible for earlier and/or more frequent cancer screenings, as well as other preventive steps, in certain cases.

“When it comes to the topic of genetic testing, the best place to start is a discussion with a primary care provider,” Herlache said. “Many times, that will result in a referral to a genetic counselor.”

People also can self-refer to a ThedaCare genetic counselor. Genetic counseling begins with a discussion of an individual’s medical and family history.

Individuals do the test via a saliva sample or blood draw, and the specimen goes to a genetic testing laboratory. It takes about three to four weeks to get results back. Genetic counselors will then walk patients through the results. Herlache stressed that genetic counselors are there to provide support and help guide next steps.

“The results will let people know if they are at increased risk for cancer, and should consider additional or earlier screening,” said Herlache. “The genetic counselor is there to help you work through any concerns regarding the results, and help develop a care plan.”  

Colorectal Cancer Screening

A colonoscopy is an excellent test because in many cases, physicians can identify pre-cancerous polyps and remove them before they turn into cancer. While other testing options are available, a colonoscopy is the best method for people at an increased risk, Herlache said.

Guidelines call for the general population to begin colonoscopy screenings at age 45 and to repeat it every 10 years through age 75.

For people with a family history of colorectal cancer, doctors may recommend beginning screening earlier. In addition, those individuals may need to repeat screening every five years instead of 10, Herlache noted. People with Lynch syndrome may begin colonoscopies as early as age 25 and repeat them every one to two years.

For more information about scheduling an appointment for a colonoscopy, visit