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 are the approximate rates of cancer that develop in people carrying a mutation of one of these genes?

Key Concepts

Lynch Syndrome

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic condition that significantly increases the risk of various cancers, particularly colorectal and endometrial cancers. It is caused by mutations in mismatch repair (MMR) genes, which are responsible for correcting DNA replication errors. Individuals with Lynch syndrome have a higher lifetime risk of developing certain cancers, often at a younger age than the general population.

Mismatch Repair Genes

Mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2, play a crucial role in maintaining genomic stability by repairing DNA replication errors. Mutations in these genes lead to an accumulation of errors in the DNA, which can result in cancer development. Understanding the specific MMR gene involved in Lynch syndrome can help predict the associated cancer risks and guide screening and prevention strategies.

Cancer Risk Assessment

Cancer risk assessment in individuals with Lynch syndrome involves evaluating the likelihood of developing specific cancers based on genetic mutations. Studies indicate that individuals with Lynch syndrome have a lifetime risk of colorectal cancer ranging from 40% to 80%, and a significant risk for endometrial cancer as well. This assessment is essential for implementing appropriate surveillance and preventive measures to manage cancer risk effectively.