Turcot syndrome


What gene mutation causes Turcot syndrome?

Turcot syndrome comes from having a mutation in one of the following genes: APC, MLH1, or PMS2. The APC gene is associated with a condition called familial adenomatous polyposis, and the MLH1 and PMS2 genes are associated with a different condition called Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC).

  • https://rarediseases.info.nih.gov/gard/420/turcot-syndrome/resources/1
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What does mismatch repair deficiency mean?

Is Turcot syndrome a predisposition or a cause?

What does mismatch repair deficiency mean?

Mismatch repair is a process the body uses to repair damage to DNA. Damaged DNA can cause tumors to grow. Using mismatch repair corrects damage done to DNA to prevent a tumor from growing. Sometimes a mutation (change in DNA sequence) causes the parts of the mismatch repair system not to work, which means that it cannot fix other mutations. This leads to a higher chance of having a tumor grow.

  • http://www.hhmi.org/biointeractive/mismatch-repair
Is Turcot syndrome a predisposition or a cause?

Turcot syndrome is a predisposition to certain types of cancer, primarily colon and brain. Having Turcot syndrome gives a person a higher chance of developing cancer, but is not a certainty.

  • http://www.omim.org/entry/276300
  • http://www.cancer.net/cancer-types/turcot-syndrome

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