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 term 'polyposis coli' applies to a condition of multiple polyps of the large intestine and is used synonymously with 'familial polyposis' and 'multiple adenomatosis'. The latter name emphasizes the fact that the individual polyps of this disease in no way differ from adenomas observed as solitary lesions. The object of this paper is to describe the histopathology, clinical features, and fam...

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 familial relationship between intestinal polyposis and the predisposition of polyposis to colonic cancer has been accepted since the publication in 1952/1953 of Dukes's paper. He collected information on every patient presenting at St Mark's Hospital with polyposis coli and investigated the family background in each case. He was able to study 41 families, trace 156 cases of polyposis, and 114...

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) tum...

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...

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...

Familial adenomatous polyposis (FAP) is a well-known autosomal dominant disorder characterized by the formation of multiple adenomatous polyps of the colon. Gardner's syndrome is a variant of familial polyposis coli, and both can be associated with colonic or extracolonic benign and/or malignant tumors. It has been widely recognized that an adenocarcinoma of the colon develops in virtually all ...

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...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...