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Familial Adenomatous Polyposis (FAP)
Registry
in South Carolina
Brenda J. Hoffman, MD
College of Medicine
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Specific Aims:
- Identify people at risk of
carrying the Adenomatous
Polyposis Coli gene before
they develop cancer
- Refer patients for
counseling, genetic testing,
and screening with flexible
sigmoidoscopies
- Evaluate patient
participation via a
questionnaire
- Train students to deliver
health care and
work-related skills to an
underserved population
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| Since 1987 there has been a test for a gene
(Adenomatous Polyposis Coli) that causes a type of colon
cancer (familial adenomatous polyposis, FAP). An
estimated 450 individuals in South Carolina may have
inherited this gene, which causes the persons to develop
polyps (growths in the intestine) in childhood that
become cancer, usually by the age of 40. Dr. Hoffman
and her colleagues will identify persons who have this
gene before the polyps and cancer develop. Once
identified, these individuals will benefit from genetic
counseling and additional testing, including periodic
colon examinations, and appropriately timed surgery to
prevent the development of colon cancer. Development of
the FAP Registry in South Carolina will begin by
identifying potential patients through evaluating medical
records of patients who previously had a diagosis and
treatment of FAP at MUSC. Outside MUSC, the registry
will be made known to all general practitioners, family
practice physicians, internists, gastroenterologists, and
surgeons in the State so that they may register their
patients. Patients will be asked to evaluate their
participation in the Registry by completing a
questionnaire. |
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