MSH2

Gene

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MSH2 is a gene in humans that encodes the MSH2 protein, which is crucial for DNA repair mechanisms, specifically in the process known as Mismatch Repair (MMR). The MSH2 protein forms heterodimers with other proteins in the MMR family, such as MSH6 or MSH3, to form complexes that recognize and repair base-base mismatches and insertion-deletion loops in DNA.

Function

The primary role of the MSH2 protein is to maintain the integrity of the genetic material by correcting errors that can occur during DNA replication. These errors, if not corrected, can lead to mutations, which in turn can cause cancer. The MSH2 protein, by forming complexes with other MMR proteins, initiates the repair process upon recognizing a mismatch in the DNA.

Clinical Significance

Mutations in the MSH2 gene are associated with Lynch syndrome, a hereditary condition that significantly increases the risk of developing colorectal cancer as well as other types of cancers including endometrial, ovarian, gastric, and urinary tract cancers. Individuals with defective MSH2 gene have a higher likelihood of accumulating mutations throughout the genome, leading to tumor development.

Genetic Testing

Genetic testing for mutations in the MSH2 gene can be crucial for families with a history of Lynch syndrome. Identifying carriers of MSH2 mutations can lead to increased surveillance and preventive measures, potentially reducing the risk of cancer development.

See Also

• DNA repair
• Mismatch repair
• Lynch syndrome
• Oncology
• Genetic testing