introduction: due to the whole network of polyposis registers worldwide and early prophylactic treatment, survival of familial adenomatosis (fap) patients is improved. extracolonic manifestations are remarkable feature of fap. two extracolonic manifestations (duodenal adenomatosis, leading duodenal cancer and desmoid tumours) play a very important role in the reasons of death in polyposis popul...

A detailed clinical study of 30 families with familial polyposis coli is presented. Seven 'isolated' cases are also described. It was found that some families did not exhibit any extracolonic manifestations, but the majority of families showed various numbers of members who had these manifestations of differing types and degrees. In view of the great variability within the members of a family, ...

BACKGROUND Familial adenomatous polyposis (FAP) patients develop various extracolonic lesions; however, the relationship between germline mutation of the APC gene and extracolonic manifestations is mostly unknown. To examine the genotype-phenotype relationship, we compared the APC mutation and clinical data. METHODS Germline mutations from codon 157 to 1465 of the APC gene were identified in ...

Desmoid tumors are one of the most common extracolonic manifestations of the familial adenomatous polyposis. However, other soft tissue tumors are seen rarely in patients with familial adenomatous polyposis, including gastrointestinal stromal tumor. There is only one case reported in the literature. We describe a 29-year-old female who developed ileal malignant gastrointestinal stromal tumor 15...

BACKGROUND/AIMS The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. In this study, direct mutation analysis of the APC gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to...