Background image for the top navigation. About the Cancer Institute Ways to Give page link Cancer Institute Homepage link
Email to a friend    Printer Friendly Page
Text Size: decrease font increase font

Visit the MaineHealth Cancer Resource Center

MAINE DIGESTIVE HEALTH CENTER
Genetic Testing

Hereditary Non-Polyposis Colon Cancer (HNPCC) or Lynch Syndrome
Lynch Syndrome is an inherited colorectal cancer-related syndrome that accounts for close to 3% of all colorectal cases. This genetic disorder is caused by alterations in the ‘mismatch repair genes’. Those with mutations in these genes have up to an 80% certainty of developing colon cancer without intervention. The average age of diagnosis is 45 years. Lynch Syndrome increases the likelihood of developing other types of cancer, such as cancers of the small bowel, stomach, uterus, ovaries, urinary system and biliary tract. A careful review of personal and family history alerts physicians to patients who may have Lynch Syndrome but do not realize it. Colonoscopy, and for women close surveillance of the ovaries and uterus, are important screening tools for those diagnosed with Lynch Syndrome. Other tests sometimes done based on family history, include upper endoscopy and evaluation of the urinary tract. Preventive surgery is a consideration for those with this condition. Those who meet diagnostic criteria should consider genetic counseling and testing.

FAP (Familial Adenomatous Polyposis)
FAP is an inherited colorectal cancer-related condition that accounts for close to 1% of all colorectal cancer cases. The APC gene is known to be associated with this disorder. For those with FAP, numerous polyps develop throughout the colon and in some patients, in the stomach and small intestine. These polyps often begin to form in childhood. Without intervention, nearly 100% of those with FAP will develop colorectal cancer by age 40. Additional symptoms may include development of desmoid tumors, osteomas (benign bony growths), benign skin changes, congenital findings involving the retina (eye). There is an increased risk of other cancers, such as thyroid, stomach, and small intestine. A review of personal and family history alerts physicians to patients who may have FAP but do not realize it. Early colon screening to detect polyps is an important tool for those diagnosed with FAP. Surgery is required for removal of the colon; individual removal of the polyps is impossible due to the vast number of them. Those who meet diagnostic criteria should consider genetic counseling and testing.

The Cancer Risk and Prevention Clinic  provides cancer genetic risk assessment and counseling. These services are available with a physician referral.

What We Treat
Common Procedures
Our Specialized Team
Online Resources
Printable Patient Education
Educational VIdeos
Educational Presentations
Published Articles
Educational Events
Evidence Based Patient Care Algorithms
Referral Forms
Contact Us

Return to the Maine Digestive Health Center Home


Health Information

22 Bramhall Street | Portland, Maine 04102-3175 | 1-(877)-831-2129