Mismatch repair cancer syndrome

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Mismatch Repair Cancer Syndrome (pronounced: mis-match re-pair can-cer syn-drome) is a type of hereditary nonpolyposis colorectal cancer (HNPCC) that is associated with a high risk of developing various types of cancer. It is also known as Turcot syndrome or Constitutional mismatch repair-deficiency syndrome (CMMR-D).

Etymology

The term "Mismatch Repair Cancer Syndrome" is derived from the function of the genes involved in this condition. These genes are responsible for repairing mismatches in DNA, and when they are mutated, they can lead to an increased risk of cancer.

Genetics

Mismatch Repair Cancer Syndrome is caused by mutations in one of several genes, including MLH1, MSH2, MSH6, and PMS2. These genes are involved in the repair of DNA mismatches, which are errors that occur during DNA replication. When these genes are mutated, the DNA repair process is impaired, leading to an increased risk of cancer.

Symptoms and Diagnosis

The symptoms of Mismatch Repair Cancer Syndrome can vary widely, but often include early-onset colorectal cancer, endometrial cancer, and various other types of cancer. Diagnosis is typically made through genetic testing, which can identify mutations in the genes associated with this condition.

Treatment and Prognosis

Treatment for Mismatch Repair Cancer Syndrome typically involves regular cancer screenings and preventive surgeries. The prognosis for individuals with this condition can vary widely, depending on the types and stages of cancer that develop.

See Also

External links

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