Lynch syndrome is a genetic condition that increases the risk of developing various cancers, often earlier in life. Colon cancer is most commonly associated with the hereditary disorder, along with endometrial cancer in women. Because Lynch syndrome is often undiagnosed, understanding the risk factors and your own family history of cancer can help you to know when to seek genetic counseling, testing, and specialized care.
Not everyone with the condition will develop cancer in their lifetime. However, knowing you are a Lynch mutation carrier can help you receive early screening and regular surveillance, which aids in cancer prevention. That’s why it’s important to seek care from Lynch syndrome specialists who can help manage and monitor your health. At MedStar Health, we offer comprehensive services for patients with Lynch syndrome, ensuring they and their families have access to the most up-to-date information on the condition. Through our high-risk clinics, our specialists provide personalized, life-saving screening recommendations aimed to aid in early detection and cancer prevention.
Risk factors
Because Lynch syndrome is passed down from family members, having a relative who has Lynch syndrome significantly increases your risk of also having it. In addition, if you or your family has a history of colon cancer or other cancers at a young age, you may be at increased risk.
Who should get tested for Lynch syndrome?
You should consider talking to a genetic counselor or Lynch syndrome specialist about genetic testing if you:
- Have a family member diagnosed with Lynch syndrome
- Were diagnosed with colorectal or endometrial cancer
- Know several family members have been diagnosed with cancers linked to Lynch syndrome
People with Lynch syndrome have a 50 percent chance of passing the gene alteration to their children. If you’ve been diagnosed, it’s important to encourage your siblings or children to also talk to a healthcare provider specializing in genetics. They can help you and your family understand the condition and the benefits of genetic testing and early intervention.
Symptoms
Lynch syndrome itself does not produce any symptoms unless cancer develops. If you develop cancer, early stages of the disease may not show any signs either. That’s why it’s important to understand early screening options so you can detect precancerous changes before cancer appears. For example, individuals with Lynch syndrome may need to begin colonoscopies as early as 20 years of age. Early detection is critical to finding cancer when it is most treatable.
As cancer advances, it can cause general cancer symptoms, such as unexplained weight loss or anemia, as well as symptoms specific to the tumor location. For example, colon cancer symptoms may include vomiting, diarrhea, constipation, or other gastrointestinal issues. If you notice anything concerning, talk to your doctor or gastroenterologist right away.
Diagnosing Lynch syndrome
If you have a family history of Lynch syndrome or cancers that suggest a high-risk of the condition, it’s important to discuss genetic testing options with your doctor. Genetic testing allows us to examine a small blood sample for genetic changes that cause Lynch syndrome. A positive test confirms that you have Lynch syndrome and should begin annual colonoscopies and surveillance, as well as additional cancer screenings. Genetic testing will also reveal the type of gene mutation you have, which may impact recommendations for preventative care and treatment.
For patients who have already been diagnosed with colorectal cancer, your doctor may recommend that a sample of cancerous tumor tissue be examined to understand the likelihood that Lynch syndrome may be the cause. These universal tumor screening tests may include microsatellite instability testing and immunohistochemistry testing. Our pathologists analyze these lab results in-house, which enables a quick referral to genetic counseling, when results for Lynch syndrome are positive.
If you are diagnosed with Lynch syndrome or are concerned about your risk, our specialists offer comprehensive, personalized care through our GI Cancer Prevention Program in Washington, D.C., and our High-Risk Cancer Program in Baltimore. There, we can help you understand your diagnosis, coordinate yearly follow-up to monitor your health and lower your cancer risks, and discuss the impact for any at-risk family members.
Managing risks
Managing cancer risks related to Lynch syndrome
At MedStar Health, our dedicated genetic counselors and GI cancer specialists provide specialized care for patients and families at-risk of or diagnosed with Lynch syndrome. Our high-risk programs ensure patients receive personalized surveillance and prevention plans that take into account their family history, personal history of cancer, genetic mutation type, and personal preferences. Through yearly visits to our clinics, patients can stay up-to-date on screening recommendations, review changes in personal or family history, discuss lifestyle interventions, and explore next steps for family members, all within one network of providers. When appropriate, we also work closely with a multidisciplinary team of cancer experts, including surgeons, oncologists, and other specialists to best manage your health.
Our collaboration with the Washington, D.C., region’s only comprehensive cancer center designated by the National Cancer Institute, Georgetown Lombardi Comprehensive Cancer Center, ensures patients have access to clinical trials and opportunities to participate in research advancing the diagnosis and care of people with Lynch syndrome.
Genetic counselors
-
Amy Daly, MS, CGC
-
Nicole Johnson, MS, CGC
-
Samuel Levy, MS, CGC
-
Hannah Stutzman, MS, CGC
To learn more about genetic counseling or to schedule an appointment, call 443-777-6725.
Frequently asked questions
How common is Lynch syndrome?
Lynch syndrome is one of the most common cancer-related genetic disorders. Although it often goes undiagnosed, about one in every 300 people carry the gene mutation.
What causes Lynch syndrome?
Lynch syndrome is caused one of several gene alterations, or “mutations” involved in DNA mismatch repair. A change in one of the following genes can cause Lynch syndrome:
- MLH1
- MSH2
- MSH6
- PMS2
- EPCAM
Gene mutations have a 50 percent chance of being passed down from parents to children. While not everyone who has a genetic condition linked to Lynch syndrome will develop cancer, it’s important to stay on top of cancer screenings and stay connected to your care team so you can monitor any early signs and potentially prevent cancer from developing.
What cancers are linked to Lynch syndrome?
Lynch syndrome is most closely associated with colorectal cancer as well as uterine (endometrial) cancer in women. However, a variety of other cancers are also related to Lynch syndrome, including:
How can I get care for Lynch syndrome?
If you have risk factors for Lynch syndrome or you have been diagnosed, you can get a referral to our Gastrointestinal Cancer Prevention Program by:
- Asking your primary care doctor or oncologist to refer you
- Calling us directly to self-refer
Scheduling an appointment
Maryland: To schedule an appointment with our High Risk Clinic in Baltimore, call 443-777-6725
Washington, D.C.: To schedule an appointment with our GI Cancer Prevention Program at MedStar Georgetown University Hospital, call 202-444-1667
Virginia: To schedule an appointment with our GI Cancer Prevention Program at MedStar Health Medical Center at Mclean in Virginia, call 703-850-8060