APC is a tumor suppressor gene that is mutated in the germline of individuals with Familial Adenomatous Polyposis Coli (FAP), a disease in which numerous benign polyps carpet the colon and without a colectomy, development of colon cancer is inevitable. In addition to inherited colon cancer, chain-terminating mutations in APC are found in approximately 50% of sporadic colorectal adenomas and 80%...

The c-myc oncogene plays an important role in tumorigenesis and is frequently deregulated in many human cancers, including gastrointestinal cancers. In humans, mutations of the adenomatous polyposis coli (Apc) tumor suppressor gene occur in most colorectal cancers. Mutation of Apc leads to stabilization of beta-catenin and increases in beta-catenin target gene expression (c-myc and cyclin D1), ...

The APC gene is mutated in the germline of people from families where there is a predisposition to develop polyposis coli. Many mutations have been described but the relation between their site and the phenotypic expression of the disease remains unclear. The most commonly seen mutation occurs at codon 1309. Many other mutations have been described towards the 5' end of exon 15 of the APC gene ...

BACKGROUND The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult and early onset colorectal cancer, to the occurrence of sparse adenomas in the older adult, "attenuated" FAP, due to mutations at the 5' or 3' ends of the APC gene. AIMS To investigate marked intrafamilial phenotypic variati...

Large deletions in the APC (adenomatous polyposis coli) gene, causing familial adenomatous polyposis (FAP), cannot easily be detected by conventional mutation-detection techniques. Therefore, we have developed two independent quantitative methods for the detection of large deletions, encompassing one or more exons, of APC. Multiplex ligation-dependent probe amplification (MLPA) is performed in ...

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. The APC gene (adenomatous polyposis coli) is considered as the major mutated gene in FAP. It has been shown that biallelic germline mutations in the base-excision-repair gene MYH can be responsible for a recessive in...

The adenomatous polyposis coli (APC) gene is proposed to function as a gatekeeper of colorectal neoplasia. A germ-line variant of this gene, the Al'C 11307K alÃ-ele,is present in —6%of the Ashkenazi Jewish population. To assess the role in tumorigenesis of the variant (A)g tract produced by this alÃ-ele,we undertook a somatic mutation analysis of the region sur rounding codon 1307 in colorect...

CONTEXT Patients with multiple colorectal adenomas may carry germline mutations in the APC or MUTYH genes. OBJECTIVES To determine the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone genetic testing and to compare the prevalence and clinical characteristics of APC and MUTYH mutation carriers. DESIGN, SETTING, AND PARTICIPANTS ...

introduction : activated protein c (apc) inactivates factor v by cleavage of its heavy chain at arg306, arg506, arg679, and lys994. mutational changes, which abolish apc cleavage sites, may predispose thrombosis by altering the inactivation process of factor v.  factor v leiden (arg506glu) has been demonstrated as a strong risk factor for thrombosis. in the current study, we have studied whethe...

Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominant hereditary predisposition to the development of multiple colorectal adenomas and of a broad spectrum of extra-intestinal tumors. Moreover, somatic APC mutations play a rate-limiting and initiating role in the majority of sporadic colorectal cancers. Not...