Hereditary Colorectal Cancer Syndromes

Colon cancer affects close to 150,000 individuals in the United States each year; 5 - 10% of this cancer burden is due to a hereditary type of colorectal cancer. The most common types are:

Cancer/Syndrome	Gene(s)
Lynch Syndrome or (HNPCC)	MLH1, MSH2, MSH6, PMS2, EPCAM
Muir-Torre Syndrome (variant of Lynch Syndrome with sebaceous skin findings)	MSH2, some MLH1
Familial Adenomatous Polyposis (FAP)	APC
Gardner's Syndrome (variant of FAP)	APC
Attenuated FAP (AFAP)	APC
MYH-Associated Polyposis (MAP)	MYH

We are able to test for several genes known to be associated with each of the hereditary colorectal syndromes. The presence of a mutation in one of these genes could increase one's risk of colorectal cancer, and other associated cancers: endometrial (uterine), ovarian, gastric, ureter/renal pelvis, biliary tract, small bowel, pancreatic, brain, and sebaceous adenomas.

Individuals who should be offered genetic risk assessment are those with a personal or family history of:

Colorectal cancer diagnosed before age 60
Endometrial cancer diagnosed before age 50
Two or more Lynch-related cancers (see above) in an individual or family
An individual with abnormal tumor screening (microsatellite instability or immunohistochemistry)
Individuals with 10 or more cumulative colorectal adenomatous polyps
Relatives of a Lynch, MAP mutation carrier, or another type of hereditary colon cancer gene mutation

To learn more, visit the Diagnosis, Treatment, Cancer Types and Clinical Trials sections of this site.

When Kathleen Luft had colon cancer at age 45, her doctor recommended she be tested to see if the diagnosis at such a young age could be traced to something in her genetic makeup. Through Beaumont's Cancer Genetics Program, her family gained valuable insights and explanations, while identifying risk reduction strategies.