All in the Family

March 12, 2013 | Dagny Stuart

Polyps, small growths found on the lining of the intestinal tract, can be benign or they can be a harbinger of cancer.

Families whose members have a history of colon polyps may have a genetic mutation that makes them more susceptible to colorectal cancer.

The Vanderbilt Hereditary Colorectal Cancer Registry, which was launched in January 2007, is dedicated to the understanding of hereditary colorectal cancers by gathering information on patients and their family members who have been diagnosed with colorectal cancer or who, because of family history, are at high risk of developing colorectal cancer. The registry also provides services to families with colorectal cancer syndromes.

More than 600 patients are now included in the Registry.

Tissue samples from every colorectal cancer patient who undergoes surgery at Vanderbilt, regardless of age, are automatically sent to Vanderbilt University Medical Center’s molecular genetics laboratory for a special test that screens for Lynch syndrome, a hereditary colorectal cancer syndrome also known as hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. If the test shows a possible hereditary cause, then further genetic investigation is indicated.
Lynch syndrome, which is caused by a mutation in one of the DNA mismatch repair genes, is perhaps the best-known hereditary cause of colorectal cancer. Patients who have or are suspected of having this mutation are encouraged to have a colonoscopy every one to two years starting at 20 to 25 years of age along with other important screening tests.

Polyps can often be removed during the colonoscopy before they become cancerous.

But too many polyps can be a marker for another type of hereditary colorectal cancer syndrome. In familial adenomatous polyposis (FAP), the colon is carpeted with polyps from one end to another. Patients with FAP have a nearly 100 percent risk of developing colon cancer by the age of 40. The gene responsible for FAP is passed down from parent to child 50 percent of the time.

“We talk to some patients who tell us ‘Everybody in my family dies of colon cancer,’ and it’s because it’s never been diagnosed,” explained Duveen Sturgeon, R.N., program coordinator of the Registry. “With proper treatment we can reduce that risk.”

Sturgeon provides counseling for patients who know or think they may be at risk for some type of colorectal cancer. She also helps patients decide if genetic testing is appropriate.

Individuals who are interested in participating or who would like to find out more about the Registry are encouraged to contact Sturgeon at (615) 322-1590 or (800) 340-7752 or email duveen.sturgeon@vanderbilt.edu.

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