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Johns Hopkins Health Alert

FAP Families at Risk for Colorectal Cancer

It is estimated that about 15% of colorectal cancers run in families. For that reason, it's important to know the health history of your immediate family and to tell your children. A family history of colorectal cancer puts you at higher risk for developing the disease, which means you should have screenings more often than the average person.

People with familial adenomatous polyposis (FAP) develop hundreds of polyps in the colon and rectum. Without treatment, FAP usually leads to colorectal cancer by age 40. Less than 1% of all colorectal cancers are due to this rare form of inherited cancer, which is caused by a change in the APC gene. A genetic variant of FAP, known as APCI1307K mutation, is found in about 6% of Ashkenazi Jews whose ancestors are from eastern Europe. About 10% of colorectal cancers in Ashkenazi Jews are associated with this mutation.

Now surprising data indicates that despite knowing they are at heightened risk for colorectal cancer, some people with or at risk for FAP fail to follow recommendations for endoscopic screening.

These are the findings from a survey of 71 people with FAP (an inherited condition that usually leads to colorectal cancer unless treated) or attenuated FAP (a related genetic condition that heightens the risk of developing colorectal cancer) and 79 close relatives. The investigators found that only 54% of those with a personal history of FAP (all of whom had intact colons and/or rectums) and 42% of the at-risk relatives had recently followed current guidelines for colorectal cancer surveillance.

The major reason respondents gave for not following up with endoscopic screening was that their healthcare provider had not recommended it. Other reasons included a lack of health insurance or reimbursement and a belief that they were not at increased risk.

The benefits of early detection in preventing death from colorectal cancer are well known, but the advice bears repeating. If you or a family member has FAP or attenuated FAP, routine screening can improve your chances of preventing the development of colorectal cancer or identifying and treating it early, which will improve your chances for survival.

This data was reported in The American Journal of Gastroenterology (Volume 102, page 153).

Posted in Colon Cancer on May 5, 2009
Reviewed July 2009

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