Replication error phenotype

Replication error phenotype (also known as RER or RER+ phenotype) is a characteristic of cells that are deficient in DNA mismatch repair. This deficiency leads to an increased rate of spontaneous mutations, which can contribute to the development of certain types of cancer, including colorectal cancer and endometrial cancer.

Overview

The replication error phenotype is associated with a high level of microsatellite instability (MSI), which is a condition characterized by the presence of length variations in short, repetitive DNA sequences known as microsatellites. This instability is caused by errors that occur during DNA replication, which are not corrected due to the deficiency in DNA mismatch repair.

Causes

The replication error phenotype can be caused by mutations in several different genes that are involved in DNA mismatch repair, including MLH1, MSH2, MSH6, and PMS2. These mutations can be inherited (as in Lynch syndrome) or acquired (as in sporadic cancers).

Clinical significance

The replication error phenotype is associated with a number of different types of cancer, including colorectal cancer, endometrial cancer, and others. These cancers often have a high level of microsatellite instability, which can be used as a marker to identify patients with the replication error phenotype.

See also

• DNA mismatch repair
• Microsatellite instability
• Lynch syndrome
• Colorectal cancer
• Endometrial cancer

References

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