DNA Repair-deficiency Disorder - DNA Repair Defects and Increased Cancer Risk

DNA Repair Defects and Increased Cancer Risk

Individuals with an inherited impairment in DNA repair capability are often at increased risk of cancer. If there is a mutation in a DNA repair gene, the repair gene will either not be expressed or expressed in a mutated form. Consequently the repair function will be deficient or altered, and damages will accumulate. Such DNA damages, if not repaired, cause errors during DNA synthesis leading to mutations that can give rise to cancer. The abbreviated names of the most well studied DNA repair genes (for which a mutation results in an increased risk of cancer) are followed by an abbreviated name of the repair pathway affected, and by the tissue in which cancer develops when the gene is mutated. Below the list is shown the full name of each gene and the affected pathway(s).

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