In This Article
In This Article
Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a condition passed down from parents to children.1
Lynch syndrome is associated with a genetic predisposition to different types of cancer. It increases your risk of developing colorectal or endometrial cancer.
It also increases your risk for various other types of cancer. Statistics suggest that Lynch syndrome contributes to 2 to 4 percent of all colorectal cancer cases and approximately 2.5 percent of endometrial cancer cases.2
This article aims to provide reliable information about Lynch syndrome and help those affected, their families, and anyone interested in learning more about it.
Lynch syndrome is one of the most common familial cancer syndromes caused by a genetic mutation. An estimate suggests 1 in 300 people may carry the altered gene related to it.1
Lynch syndrome is caused by a germline mutation in any of the five mismatch repair (MMR) genes. A germline mutation occurs in the reproductive cells.
Errors during the cell process division can cause gene mutations.
Your mother or father can either pass down the gene mutation, and it’ll be present in all the cells in your body.
Families with Lynch syndrome have a higher risk of developing many types of cancer, including colon cancer.
MMR genes are responsible for correcting DNA errors that occur during the replication process.3
The five MMR genes are:
However, not all families with Lynch syndrome have identifiable alterations with these MMR genes. Researchers are still identifying other genes linked with this genetic condition.
Lynch syndrome follows an autosomal dominant inheritance pattern. It means you can inherit the condition even if only one of your parents carries the mutated gene.1
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People with Lynch syndrome face an increased risk of developing multiple types of cancers during their lifetime.
The lifetime risk of colorectal cancer can be up to 80 percent. On the other hand, the risk of endometrial cancer can reach up to 60 percent.
The most common cancers linked with Lynch Syndrome include:
An early diagnosis of Lynch syndrome is critical for detecting and treating colon and rectal cancers.
Doctors rely on two sets of guidelines to determine if testing is appropriate for you.
The diagnostic criteria for Lynch Syndrome serve as a roadmap for identifying who may be at a higher risk for this hereditary condition.
The Amsterdam criteria are based on family history. Doctors found that families with Lynch syndrome typically have specific characteristics.
They use these criteria if three relatives in two or more generations have colorectal cancer, of which:4
If all of these conditions apply to your family, then consider seeking genetic counseling. Although meeting all the Amsterdam criteria doesn’t necessarily mean you have Lynch syndrome, it’s good to be sure about your risks.
The second set of criteria is known as the revised Bethesda guidelines.
It helps determine if a person with colorectal cancer should undergo testing for genetic changes linked with Lynch Syndrome.
The guideline includes that the person experience at least one of the following:4
If a person with colorectal cancer meets the Bethesda criteria, doctors will advise microsatellite instability (MSI) testing.
Microsatellites are DNA regions with repeated sequences that show instability when mismatch repair malfunctions.
Should MSI be detected, they typically recommend further testing for Lynch Syndrome-associated gene mutations.
The screening procedures for Lynch syndrome include the following:
If you have a family history of Lynch syndrome, your doctor can recommend a genetic test. Testing helps assess your risk of developing cancer linked to the condition.
A genetic test is often done using a blood sample. Once your doctor confirms you have a genetic mutation linked to Lynch syndrome, they’ll schedule you for regular screening.
A colonoscopy is the top choice for diagnosing Lynch Syndrome. It's the most effective method for detecting polyps or cancer since it enables doctors to examine the entire bowel.5
Preparations might involve a liquid diet, an enema, and laxatives to clear your colon of stool. It ensures optimal visibility of your bowels.
During a colonoscopy, your doctor inserts the colonoscope through the rectum and into the anus and large intestine. The colonoscope helps them inspect for cancer or polyps.
If needed, biopsy forceps can be passed through the scope. It can collect a small tumor tissue sample for further testing. If a polyp is detected, it can be removed using the colonoscope.
You’ll usually be sedated before undergoing the procedure. But you may experience some cramping or discomfort during the process.
Women at risk for Lynch syndrome need an endometrial biopsy. It is vital if they're experiencing abnormal bleeding symptoms.
The procedure involves your doctor removing a small tissue sample from your endometrium (the lining of your uterus).
They’ll send the sample to a lab to examine the cells for cancer or other abnormalities. Your healthcare provider may perform an annual endometrial biopsy from age 30 to 35.
MSI and IHC tests are screening tools. They assess how likely your cancer resulted from a Lynch syndrome gene mutation.
A positive test result suggests the cancer might be linked to a gene mutation. You can proceed with genetic blood testing to confirm.5
Reducing your risk of developing cancer with Lynch syndrome involves regular screening, preventive surgeries, and lifestyle changes.
Regular checkups and screenings are essential for early detection intervention. They can significantly impact the prevention and management of your condition.
In some cases, doctors may recommend preventive surgery to reduce the risk of certain cancers.
For example, doctors may suggest removing the uterus, fallopian tubes, and ovaries for women at high risk of endometrial and ovarian cancer.
Similarly, they may advise considering a colectomy for someone at risk of colorectal cancer. It is a procedure for the removal of part or all of the colon.
Adopting a healthy lifestyle can help lower your overall cancer risk. You can start taking care of your health today by:
Living with Lynch syndrome requires an attentive and proactive approach to maintaining your health. Here are some essential tips to help you manage your condition effectively:
These coping strategies can help people with Lynch syndrome to minimize the impact of their condition on their lives.
Consuming a well-rounded diet is essential for overall health, especially if you’re living with Lynch syndrome.
Here are some tips on what to eat and avoid to help reduce your risk of developing cancer:
However, it’s important to consult a certified genetic counselor. They can work with you on a personalized approach based on your genetic makeup and lifestyle.
Several studies have linked physical activity to numerous health benefits. The benefits include a reduced risk of certain cancers.7
Aim for at least 150 minutes of moderate or 75 minutes of vigorous exercise in a week.8
Effective stress management is essential for people with Lynch Syndrome. Chronic stress can weaken the immune system and increase the risk of illnesses, including cancer.
Develop healthy coping strategies, such as:
Several groups offer support to people with Lynch Syndrome and their families. They can provide access to support groups, educational conferences, and valuable health information.
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