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Clinical features of familial adenomatous polyposis: Genotype-phenotype correlation and chemoprevention

Clinical features of familial adenomatous polyposis: Genotype-phenotype correlation and chemoprevention

Stomach & Intestine 32(4): 543-550

According to the number of colorectal adenomas, familial adenomatous polyposis is classified under three phenotypes; profuse type, sparse type and attenuated type. The mean age of diagnosed polyposis, cancer and of death differs depending on which type is present. Each phenotype has a relationship with a certain mutation on the APC gene. Some of the extra colonic manifestations, such as desmoid tumor and hypertrophy of the retinal pigment epithelium also have a certain relationship with a specific mutation. Sulindac induces regression of colorectal adenomas. The number and size of adenomas were reduced after 6 months administration of sulindac. Desmoid tumor is also reduced by sulindac therapy. Both genotype-phenotype correlation and sulindac chemoprevention are important for managing patients so that they wont develop desmoid tumor and tumor of the residual rectum.

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