Author: Jay W. Marks, MD
Editor: Michael Lill, MD
There has been much excitement during the past decade because of the
identification of defective genes (mutations) associated with
colon cancer
in families where colon cancer is common. When a defective gene can be
identified, it is possible to examine other members of the family to see if they
also carry the defective gene. Those individuals who carry the defective gene
are at a very high risk (75%-100%) for developing colon cancer. The reason for
the excitement is that if an individual is found to have the defective gene, his
or her colon can be removed before the cancer occurs.
Only 5% of all colon cancers occur in families with a history of colon cancer and identifiable genetic defects. Therefore, genetic testing as it exists today is useful for only a minority of the 130,000 people each year who are destined to develop colon cancer. Nevertheless, genetic testing is important because the risk is so extremely high among individuals who are found to have the genetic defect. In addition, more defective genes are likely to be found during the next few years, and this will make genetic testing valuable for an increasing number of individuals who will develop colon cancer.
At present, there are two types of familial colon cancer in which defective genes can be identified. One type of cancer is associated with a strong family history of colon polyps. The other type of colon cancer is not associated with a family history of colon polyps. The polyp-associated cancerous disease is called familial adenomatous polyposis (FAP). (Adenomatous polyps are a type of polyp that have the potential to become cancerous.) The nonpolyp-associated cancerous disease is called hereditary nonpolyposis colorectal cancer (HNPCC).
The human colon is a muscular, tube-shaped organ measuring about 4 feet long. It extends from the end of your small bowel to your anus, twisting and turning through your abdomen (belly). The colon has 3 main functions.
The right side of your colon plays a major role in absorbing water and electrolytes, while the left side is responsible for storage and evacuation of stool.
Cancer is the transformation of normal cells. The transformed cells grow and multiply abnormally.
In the United States, 1 in 17 people will develop colorectal cancer.
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