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, APC or MYH mutation carrier, or another type of hereditary colon cancer gene mutation