[Clinical features and current progress of familial adenomatous polyposis]

Abstract

Familial adenomatous polyposis(FAP) is inherited disease as an autosomal dominant trait in which the large intestine is diffusely carpeted by numerous adenomas with a high incidence of colorectal cancer. Current clinical aspects and biological progress were discussed with emphasis on diagnostic imaging, natural histories of gastrointestinal polyps and intra-mandibular osteomas. Genotype-phenotype correlation including attenuated type and function of APC gene, identified in 1991 as a responsible tumour suppressor one for FAP and Gardner syndrome, were also reviewed.