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.