What is Lynch Syndrome?
Lynch syndrome is a hereditary condition that increases the risk of colon cancer and endometrial cancer, as well as a few other cancers including stomach, liver, kidney, brain and certain types of skin cancer. Individuals with Lynch syndrome have a higher risk of developing colon cancer at a younger age, especially before age 50. They may also have a family history of colon cancer at a younger age, or a family history of endometrial cancer.
This syndrome is caused by a mutation in one of five distinct genes (the MMR gene) that fix errors in DNA. It runs in families in an autosomal dominant inheritance pattern, meaning if one parent carries a gene mutation for Lynch syndrome, there is a 50% chance that the mutation will be passed on to each child.
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How is Lynch Syndrome Diagnosed?
There is a set of criteria used to help doctors determine who should be tested for Lynch syndrome called the revised Bethesda guidelines. These criteria include those who:
- Develop colorectal or endometrial cancer before 50 years of age.
- Develop colorectal cancer, endometrial cancer or other types of cancer with a mismatch repair deficiency or high-level microsatellite instability found on tumor testing.
- Develop colorectal cancer or other types of cancer linked with Lynch syndrome at the same time or separately.
- Have colorectal cancer in one or more first-degree relatives who also has or have had another cancer related to Lynch syndrome with one of these cancers developing before the age of 50.
- Have colorectal cancer in two or more first- or second- degree relatives with another cancer related to Lynch syndrome.
If Lynch syndrome is a possibility, your doctor will ask you about your family history of cancer, which may result in further testing or procedures for diagnosis. Tests may include the following:
Tumor Testing: If you or a family member has been diagnosed with cancer, tumor testing can be done to reveal whether the cancer was caused by genes related to Lynch syndrome. Tumor tests may include immunohistochemistry (HIC) testing or microsatellite instability (MSI) testing.
Genetic Testing: Genetic testing of a blood sample look to identify changes in the genes that may indicate Lynch syndrome. Your genetic counselor will discuss the benefits and risks of genetic testing with you.
Treatment Options for Lynch Syndrome
There is currently no cure for Lynch syndrome, however, patients can undergo regular cancer screening beginning in adulthood. Screening for colorectal cancers includes a colonoscopy every couple of years starting at age 20. If colon cancer is found, a colectomy may be performed to remove the entire colon. In certain cases where a colonoscopy cannot be performed, preventative surgery to remove the colon may be a consideration.
Additionally, your doctor may recommend other cancer screening tests if your family has a history of other cancers.
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At South Denver GI, our team of physicians and advanced practice providers have the expertise to provide you with outstanding care. If you would like to learn more about Lynch Syndrome or need to schedule an appointment at our office, contact us today!
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