Leading article
Screening for familial adenomatous polyposis
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Introduction |
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When a serious genetic disorder is diagnosed in the family, an immediate question arises: are other family members at risk? Ethical issues arise when DNA technology allows testing of children for a condition which is unlikely to have significant morbidity until later life. Familial adenomatous polyposis (FAP) exemplifies this dilemma. A rational approach to screening requires both an understanding of the natural history of the condition and an acknowledgement of the ethical issues involved.
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Natural history and presentation |
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FAP is the most common of the hereditary polyposis syndromes.
Patients typically develop multiple adenomas throughout the large
bowel, usually more than 100 and sometimes more than 1000. By the fifth
decade colorectal cancer is almost inevitable if colectomy is not
performed. Adult patients with FAP are also at increased risk of
malignancies of the duodenum, ampulla of Vater, thyroid, and pancreas.
Children under 5 years of age may develop hepatoblastoma. Patients with
Turcot's syndrome have FAP associated
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This article has been cited by other articles:
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Sidhu, R, Sanders, D S, McAlindon, M E, Thomson, M
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