Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. What genes are most commonly mutated in Lynch syndrome?

Key Concepts

Lynch Syndrome

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic condition that increases the risk of colorectal cancer and other cancers. It is caused by inherited mutations in specific genes responsible for DNA mismatch repair, leading to an accumulation of genetic errors. Understanding Lynch syndrome is crucial for identifying at-risk individuals and implementing appropriate screening and preventive measures.

DNA Mismatch Repair Genes

DNA mismatch repair (MMR) genes are essential for correcting errors that occur during DNA replication. In Lynch syndrome, the most commonly mutated MMR genes include MLH1, MSH2, MSH6, and PMS2. Mutations in these genes impair the body's ability to repair DNA, resulting in increased mutation rates and a higher likelihood of developing cancer, particularly colorectal and endometrial cancers.

Genetic Testing and Screening

Genetic testing for Lynch syndrome involves analyzing an individual's DNA to identify mutations in MMR genes. This testing is vital for diagnosing Lynch syndrome, guiding treatment options, and determining the need for increased surveillance for associated cancers. Early detection through genetic testing can significantly improve outcomes by allowing for proactive management and preventive strategies in at-risk individuals.