| Colon
cancer registry established at MUSC
Characterized by the presence of hundreds of polyps throughout the colon, familial adenomatous polyposis coli, also known as FAP, is an unusual inherited condition associated with the development of cancer. Polyps first appear in childhood and invariably undergo malignant transformation, usually by age 40. The recent identification of the gene mutations in FAP make presymptomatic molecular diagnosis possible. A registry to detect FAP in patients before they develop colon cancer has been set up at MUSC. The computerized registry will decrease mortality by referring affected patients in a timely fashion for surgical intervention. It is the only registry of its kind in the Carolinas. Many people in families with known familial adenomatous polyposis coli are not aware of their risk of developing the condition, or of its serious consequences. FAP affects one in 8,000 people in the United States. Within the affected families, however, it is extremely prevalent. The registry team The core team forming the FAP registry at MUSC consists of Brenda J. Hoffman, M.D., medical director; Judith Green, MSW, registry coordinator; Mahesh Mokhashi, M.D., research fellow; G. Shashidar Pai, M.D., genetics; Paul L. Baron, M.D., oncologic surgeon; Susan S. Baker, M.D., Ph.D., pediatric gastroenterologist; and David Lewin, M.D., gastrointestinal pathologist. How the registry works The mission of the registry is to prevent colon cancer. Its goal is to identify, educate and help patients with FAP and their family members at risk for developing FAP, Green said. The registry offers counseling, genetic testing, and coordination of flexible sigmoidoscopies and surgery, as needed. However, clinical services are not provided through the registry unless requested by the primary caregiver. Ideally, screening endoscopies should be set up and performed by the patient's physician, who then forwards results to the registry coordinator for entry into the registry data base. Patients also may come to the MUSC Digestive Disease Center for screening. Each identified FAP patient will meet with the coordinator of the computerized registry to map out the patient's family tree. The registry will offer genetic testing to appropriate individuals. There is no charge for the genetic testing, and results are kept strictly confidential. The patient or his insurance company will be billed for all other screening procedures, as they are a part of normal care for patients with FAP or colon cancer. The registry is particularly interested in reaching pediatricians with its message. Data show that effective management for a child with a family history of FAP should start at age 11. Screening with flexible sigmoidoscopies should be done:
Treatment Although FAP is a serious condition that may become life-threatening, it can now be detected early and treated successfully. With prompt treatment, FAP patients can lead normal, healthy lives. Treatment for any individual identified with FAP includes surgery of the colon, Green said. There are several successful procedures that are effective, definitive interventions for preventing colon cancer. The patient's doctor will advise regarding the appropriate surgery for an individual, she said. Funding The FAP registry is possible because of a grant from the Healthy South Carolina Initiative. The registry is based on the expertise and infrastructure of two already existing organizations within MUSC, the Digestive Disease Center and Hollings Cancer Center. For consultation or referrals, call MUSC Health Connection at 792-1414. Editor's note: The article is reprinted from MDialogue newsletter, a physician liaison program publication. Most patients develop polyps without symptoms. However, a combination of the following may occur:
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