Lynch Syndrome

Lynch Syndrome (also known as Hereditary Nonpolyposis Colorectal Cancer or HNPCC) is a type of inherited cancer syndrome associated with a genetic predisposition to different cancer types. This syndrome is named after Henry T. Lynch, an American physician who first described the syndrome.

Genetics

Lynch Syndrome is caused by mutations in the DNA mismatch repair (MMR) genes, most commonly MLH1, MSH2, MSH6, and PMS2. These genes are responsible for repairing errors that occur when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication errors, which can accumulate and lead to uncontrolled cell growth and possibly cancer.

Diagnosis

Diagnosis of Lynch Syndrome can be complex, as the syndrome can present with a variety of symptoms and cancer types. Genetic testing is the most reliable method for diagnosing Lynch Syndrome. This involves sequencing the MMR genes to identify any mutations. In addition, Immunohistochemistry (IHC) can be used to detect the presence or absence of MMR proteins in tumor tissue.

Management

Management of Lynch Syndrome involves regular surveillance for early detection of cancer. This may include regular colonoscopies, endometrial biopsies, and other screening tests. In some cases, preventive (prophylactic) surgeries may be recommended.

Epidemiology

Lynch Syndrome is relatively rare, affecting about 1 in 300 to 1 in 500 individuals. However, it is the most common cause of hereditary colorectal cancer.

See also

• Colorectal cancer
• Genetic testing
• DNA mismatch repair

Lynch Syndrome Resources
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