Which genes are involved in Lynch Syndrome?

Lynch Syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is predominantly linked to mutations in several critical mismatch repair (MMR) genes, which are essential for correcting DNA replication errors that occur during cell division. The genes that are most commonly associated with Lynch Syndrome include MLH1, MSH2, MSH6, and PMS2.

Each of these genes is involved in the DNA MMR pathway. When any of these genes are mutated, the efficiency of DNA repair is significantly reduced, leading to microsatellite instability (MSI) and an increased risk of developing certain types of cancer, particularly colorectal and endometrial cancers.

This collective association with Lynch Syndrome underscores the importance of these specific genes in maintaining genomic stability and their broader implications for cancer risk in affected individuals. Thus, identifying mutations in MLH1, MSH2, MSH6, and PMS2 is crucial for diagnosing Lynch Syndrome and for guiding cancer surveillance and preventive strategies in affected families. The other options presented include genes that are not directly associated with Lynch Syndrome, showcasing the specificity of the MMR genes involved in this hereditary condition.