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Heritable Colon Cancer Syndromes

Familial Colon Cancer

There are different types of inherited colon cancer conditions, including Familial adenomatous polyposis (FAP) and Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC).

FAP accounts for approximately 1% of all colon cancers.  FAP predisposes people to develop 100’s to 1,000’s of colon polyps, which are benign growths. Although benign, polyps have the ability to become cancer and therefore, people with FAP are at increased risk to develop colon cancer and at a much younger age than the general population (20’s, 30’s, and 40’s).  There is also a milder version of this condition, called Attenuated FAP, where individuals tend to develop fewer than 100 polyps, often at later ages than with the classic form of FAP.

Lynch syndrome accounts for approximately 3-5% of all colon cancers. It is the most commonly inherited known condition that predisposes a person to develop colon cancer.  Women with Lynch syndrome are also at increased risk to develop endometrial cancer (cancer of the uterus).  There are additional cancer risks associated with Lynch syndrome.

More recently, a condition called MYP polyposis was discovered, and presents another opportunity to identify possible genetic risk for colon polyps and colon cancer.  Those with MYH polyposis tend to have more than 20, but fewer than 100 polyps in the colon.  Genetic testing is also available for this condition.

Some families may have a hereditary predisposition to colon polyps, colon cancer, and other gastrointestinal cancers, from heritable conditions other than FAP and Lynch syndrome.  Some of the conditions include: Juvenile Polyposis, Peutz-Jeghers, Cowden’s, and other conditions that have yet to be discovered.

If an individual is suspected to have any of the above mentioned hereditary cancer syndromes, genetic counseling can help identify who in the family is at risk while our physicians are experienced with the evaluation and management of these diagnoses.

Familial Risk of other Gastrointestinal Cancers

Some families may have an inherited predisposition to other types of gastrointestinal cancer.  Barrett’s esophagus, esophageal cancer, stomach cancer, pancreatic cancer, and GI sarcomas, for example, are known to run in families.  In addition, there seems to be a familial association between breast and colon cancer.  Penn’s team is familiar with these conditions and is able to provide genetic counseling, testing, and recommendations for medical management in all areas.

Is genetic testing right for you and your family?

Genetic testing is a process in which the inherited genetic material, called DNA, is carefully tested for alterations.  DNA is obtained from a simple blood test.  Penn’s team offers genetic testing for families with a known or suspected history of FAP, Lynch syndrome, and other conditions.

While having genetic testing involves a simple blood draw, results are not always straightforward.  Testing is best ordered by someone with experience in cancer genetics who can provide the appropriate interpretation, as well as medical recommendations, irrespective of the result. 

If you are eligible for genetic testing, it is a personal choice whether or not to pursue testing.  Our program provides education about the benefits, limitations, and potential drawbacks of genetic testing to help you make the decision that is right for you.

We encourage you to visit with our GI Cancer Risk Evaluation team if you feel that the provided information may apply to you or your family.  Please contact our clinic coordinator at 215-662-3544 to learn more about the visit process and to schedule an appointment.

Additional questions can be addressed by our genetic counselors:

Jessica Long, MS CGC at 215-662-2773
Jacquelyn Powers, MS at 215-349-8141
Jill Stopfer, MS CGC at 215-349-8143

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University of Pennsylvania | Perelman School of Medicine