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Published on October 27, 2011

New Genetic Testing Can Help Determine Colorectal Cancer Risk

In Brief

  • Genetic testing is now available to help patients and family members know if they are at risk for Lynch syndrome, which is also called hereditary nonpolyposis colorectal cancer (HNPCC).
  • Lynch syndrome is a type of inherited susceptibility to cancer of the digestive tract, particularly in the colon and rectum.
  • If a person has inherited the genetic change associated with Lynch syndrome, it is recommended that he/she have a colorectal screening in their 20s and a colonoscopy every 1 to 2 years

Genetic testing is now available to help patients and family members know if they are at risk for Lynch syndrome, which is also called hereditary nonpolyposis colorectal cancer (HNPCC). Lynch syndrome is a type of inherited susceptibility to cancer of the digestive tract, particularly in the colon and rectum.

People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver and gallbladder ducts, urinary tract, brain as well as a particular type of skin cancer known as a sebaceous carcinoma. According to the National Institutes of Health, more then 160,000 cancers of the colon and rectum are diagnosed each year, and approximately 3 percent or more of those are caused by Lynch syndrome.

Women with Lynch syndrome have a high risk of cancer of the endometrium or uterus and an increased risk for cancer of the ovaries. The cancers associated with Lynch syndrome tend to develop at a younger age than in the average risk population. Men and women with Lynch syndrome are at greater risk for developing a second cancer following an initial diagnosis of cancer.

Crozer-Keystone hospitals currently screen tumor tissue samples from patients undergoing resections for colon cancer and hysterectomies for endometrial cancer for signs of Lynch syndrome. “The screening results don’t diagnose an individual with Lynch syndrome but, along with a history of cancers in the family, may indicate a strong probability that Lynch syndrome runs in the family,” says Virginia Speare, Ph.D., genetic counselor for Crozer-Keystone Cancer Services.

If a person has inherited the genetic change associated with Lynch syndrome, it is recommended that he/she have a colorectal screening in their 20s and a colonoscopy every 1 to 2 years. “Colorectal cancers associated with Lynch syndrome are preventable when precancerous polyps are removed,” Speare says.

Genetic testing is a blood test that can tell you if you carry a changed or mutated gene that can cause colon cancer. “If diagnosed with the gene for Lynch syndrome, your genetic counselor will work with you to help reduce the risk for colorectal cancer by recommending a healthy diet with plenty of fiber, not smoking, limiting alcohol exposure and getting plenty of exercise. But most importantly, get regular checkups from your physician and screenings for colorectal cancer; so if you are diagnosed, the cancer is in an early stage,” Speare says. 

If you are concerned about your family’s risk or other hereditary cancers, call 1-866-695-HOPE (1-866-695-4673) to schedule an appointment with a genetic counselor.

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Crozer-Keystone Health System

Grant Gegwich, Vice President

Phone: 610-447-6316
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Phone: 610-447-6314
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Healthplex Sports Club
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Delaware County Memorial Hospital

Mary Wascavage
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Taylor Hospital

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