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Gardner syndrome is a subtype of familial adenomatous polyposis (FAP) caused by a mutation in the APC gene, which can be passed on from both parents. It causes noncancerous tumors in the intestinal tract and increases the risk of colorectal and other cancers. Testing for the APC gene mutation is necessary for diagnosis and identifying close relatives who may also have the condition.
Gardner syndrome is caused by a mutation in the adenomatous polyposis (APC) gene, which is passed on through genetics. It can be passed on from both father and mother. There are two copies of each gene in each cell, so even if a patient’s mother has Gardner syndrome, only one copy of the gene will be affected, and therefore there is about a 50 percent chance that the affected version of the gene APC is transmitted to the patient.
Gardner syndrome is a form of familial adenomatous polyposis (FAP), which causes several noncancerous tumors to grow within the intestinal tract. Cells within the intestinal lining combine and form growths, and sufferers usually have multiple adenomatous polyps in the colon in their mid-30s. Having the condition, especially if left untreated, leads to a significantly increased risk of developing colorectal cancer or other cancers such as stomach cancer.
The syndrome is passed on through genes, so understanding this relationship is critical to understanding how the genetic mutation can be passed on. If someone has the syndrome, they will have a mutated version of the APC gene and an unmutated version. The chance that the mutated gene will be passed on to her children is only 50 percent. If both parents have a defective version of the APC gene, there is only a 25% chance that the child will get both defective genes.
The chances of getting Gardner syndrome are low because the condition is considered very rare. The chances of both parents having the condition are very small if they are unrelated. However, 30 percent of people who have FAP actually have a new genetic mutation, meaning there is no family history of the condition. FAP is the broader condition of which Gardner syndrome is a subtype, so there is a possibility that a non-genetic development of the condition is possible.
People who have multiple colon polyps and other cancers such as osteomas, which are bone tumors usually found on the jaw, are usually tested for Gardner syndrome, or FAP. To test for the condition, a blood sample is taken and examined for the APC gene mutation. If a mutation is found within a family, the chance that close relatives such as brothers and sisters have the condition is also 50 percent, meaning they will need to be tested.
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