Mutations in the adenomatous polyposis coli gene or activating mutations in the beta-catenin gene itself are thought to be responsible for the excessive beta-catenin signaling involved in intestinal carcinogenesis. We generated transgenic mice that expressed large amounts of a NH2-terminally truncated mutant beta-catenin (deltaN131beta-catenin) in the intestine. These mice had multifocal dyspla...

Adrenal hemangioma is an uncommon benign vascular tumor that is often discovered incidentally. It has never been reported in association with familial adenomatous polyposis. We report a case of a 60-year old man with a history of familial adenomatous polyposis, in whom a huge retroperitoneal cyst of 18x17 cm was discovered during routine radiologic evaluation. Because of the impossibility of ru...

Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...

Clear-cut inherited Mendelian traits, such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer, account for <4% of colorectal cancers. Another 20% of all colorectal cancers are thought to occur in individuals with a significant inherited multifactorial susceptibility to colorectal cancer that is not obviously familial. Incompletely penetrant, comparatively rare missen...

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitabl...

Axin antagonizes the developmental effects of Wnt in vertebrates. We show here that Axin simultaneously binds two components of the Wnt pathway, b-catenin and its negative regulator glycogen synthase kinase-3b. In mammalian cells, Axin inhibits Wnt-1 stimulation of b-cateniny lymphoid enhancer factor 1-dependent transcription. Axin also blocks b-catenin-mediated transcription in colon cancer ce...

How did it get its name? APC is short for adenomatous polyposis coli. The APC gene is mutated in familial adenomatous polyposis, a hereditary form of colon cancer. Carriers of APC mutations develop thousands of colon tumours, some of which inevitably progress to malignancy. Inactivating mutations in APC are also found in the large majority of sporadic colon cancers. APC is therefore an importan...

The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5. Sixteen DNA marker loci were used to construct a linkage map ofthe chromosome. When five kindreds segregating a gene for adenomatous polyposis coli were characterized with a number of the markers, significant linkage was found between one marker and the disease gene. Linka...

COLORECTAL CANCER IS CLASSIFIED IN TO THREE FORMS sporadic (70-75%), familial (20-25%) and hereditary (5-10%). hereditary colorectal cancer syndromes classified into two different subtypes: polyposis and non polyposis. Familial Adenomatous polyposis (FAP; OMIM #175100) is the most common polyposis syndrome, account for <1% of colorectal cancer incidence and characterized by germline mutations i...