Jefferson University Hospitals

Colon Cancer Genetic Testing

Our experts at Jefferson's Clinical Cancer Genetics Service will work with you to identify if you are predisposed to colorectal cancer.

Hereditary cancer syndromes occur when a genetic change in DNA called a “mutation” is inherited from either parent. About 5 to 10 percent of all colorectal cancers are caused by a mutation that can be passed from parent to child.

The two major subtypes of hereditary colon cancer are called familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) also known as Lynch Syndrome.

Familial Adenomatous Polyposis

Many colorectal cancers originate from benign adenomas (tumors), as in the case of familial adenomatous polyposis, a genetic disease marked by numerous precancerous polyps in the colon and rectum. These polyps usually develop in the second or third decade of a patient's life. The likelihood that patients with FAP will develop colorectal cancer is almost 100 percent unless they undergo a prophylactic colectomy, which is a preventive procedure to remove the colon.

Lynch Syndrome

Lynch Syndrome is the most common form of hereditary colorectal cancer. It develops when people are relatively young, and is associated with polyps – but only a few, not hundreds as in FAP.

Women with this condition also have a high risk of developing cancer of the endometrium (lining of the uterus). Other cancers associated with HNPCC include cancer of the ovary, stomach, small bowel, pancreas, kidney, ureters (tubes that carry urine from the kidneys to the bladder) and bile duct.

Are You at Risk for Hereditary Colon Cancer?

You may be at risk for hereditary colon cancer if you fulfill one or more of the following criteria if you are a patient with a diagnosis of:

  • FAP
  • Colorectal cancer who is 55 years old or younger
  • Four or more noncancerous polyps
  • Juvenile polyposis, Peutz-Jeghers syndrome or other hereditary colorectal cancer syndrome

Our genetic counselor will review your family and medical history and provide the following:

  • Discussion of the roles genes play in the development of colon cancer
  • Personalized colon cancer risk assessment
  • Individualized colon cancer screening recommendations
  • Cancer risk-reduction options and prevention strategies
  • Discussion of the benefits and limitations of genetic testing
  • Testing for genetic colon cancer, if appropriate
  • Opportunity to participate in research studies focused on cancer risk and prevention

Make an Appointment

Schedule an appointment for a colon cancer risk assessment by calling Stephanie Winheld, MS, LCGC Genetic Counselor, at 215-955-1011.