ABSTRACT
The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations. Typical disease symptoms were observed in families who harboured mutations between exon 4 (codon 169) and codon 1393 of exon 15. Mutations beyond codon 1403 were associated with more varied phenotype with respect to the development of extracolonic symptoms. In this report we provide support for the notion that there appears to be a correlation between the location of an APC mutation (beyond codon 1403) and extracolonic manifestations of familial adenomatous polyposis.
Subject(s)
Adenomatous Polyposis Coli/genetics , Codon , Mutation , Adenomatous Polyposis Coli/pathology , Adolescent , Adult , Chromosome Mapping , Codon/genetics , Electrophoresis, Polyacrylamide Gel/methods , Female , Humans , Male , Middle Aged , Pedigree , Polymerase Chain Reaction , Polymorphism, Single-Stranded ConformationalABSTRACT
About 10-30% of benign duodenal tumors are Brunner's gland tumors. These are almost always benign. Usually they present as incidental findings in the form of small polypoid lesions at barium examination or at panendoscopy. We present a case with a large obstructing and bleeding Brunner's gland adenoma located in the duodenal bulb which was removed by endoscopic polypectomy.
