[Familial polyposis coli].
Familial polyposis coli (FAP) presents multiple adenomas in the large bowel. Also, polyps in the upper gastrointestinal tract are observed in some cases of FAP. Since the risk of developing colorectal cancer is almost 100% in FAP, patients need surgical treatment (colectomy) after a diagnosis of FAP is made. After a gene for FAP (APC gene) was identified, an accurate diagnosis of FAP is becoming possible by examining APC gene, even though patients show no clinical manifestations. Many studies revealed various mutations of APC gene and examined the relation between the site of the germline APC mutation and the phenotypic expression of FAP. These studies suggested that there was a Genotype-Phenotype Correlation in FAP. Some differences of clinical features in FAP, such as profuse type and attenuated type of FAP (AAPC), are now considered to be caused by the difference of the site of the germline APC mutation.
First Department of Surgery, University of Tokyo.
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Watanabe
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Muto
D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000628:therapy; D005192:Family Health; D017491:Genes, APC / Q000235:genetics; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D010641:Phenotype