Disease relevance of Adenomatous Polyposis Coli

• We have studied family N, which is affected with multiple colorectal adenomas and carcinoma but lacks an inherited mutation of the adenomatous polyposis coli gene (APC) that is associated with familial adenomatous polyposis [1].
• Germ-line mutations in the adenomatous polyposis coli (APC) gene characteristic of familial adenomatous polyposis were evaluated, as well as DNA replication errors and germline mutations in nucleotide mismatch-repair genes characteristic of hereditary nonpolyposis colorectal cancer [2].
• Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there is a rare dominantly inherited susceptibility to colon cancer, familial adenomatous polyposis (FAP; also often previously called familial polyposis coli) [3].
• We analyzed and compared expression of the inducible COX-2 isoform in colorectal neoplasms from patients with hereditary nonpolyposis colorectal cancer (HNPCC), familial adenomatous polyposis (FAP), and sporadic CRC [4].
• Sulindac causes regression of rectal polyps in familial adenomatous polyposis [5].

Psychiatry related information on Adenomatous Polyposis Coli

• Both have familial adenomatous polyposis (FAP) and mild mental retardation [6].
• BACKGROUND: Knowledge of postoperative health status is important in decision-making about the type of operation necessary in patients with familial adenomatous polyposis (FAP) [7].

High impact information on Adenomatous Polyposis Coli

• The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis [8].
• Bim1 homolog EB1 was originally identified through its interaction with adenomatous polyposis coli (APC) tumor suppressor, raising the possibility that an APC-EB1 linkage orients microtubules in higher cells [9].
• Finally, we investigated the expression of BMP2 in microadenomas from familial adenomatous polyposis patients [10].
• High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis [11].
• BMP2 expression is lost in the microadenomas of familial adenomatous polyposis patients [10].

Chemical compound and disease context of Adenomatous Polyposis Coli

• Sulindac in familial adenomatous polyposis [12].
• To test this hypothesis sulindac sulfide, which is used to treat familial adenomatous polyposis, was selected to detect gene modulation in human colorectal cells at physiological concentrations with microarray analysis [13].
• We report that adenomatous polyposis coli (APC) mutant zebrafish harbor an RA-deficient phenotype including aberrant intestinal differentiation and that these mutants can be rescued by treatment with retinoic acid or injection of rdh1l mRNA [14].
• Caffeine phenotyping of cytochrome P4501A2, N-acetyltransferase, and xanthine oxidase in patients with familial adenomatous polyposis [15].
• In a familial adenomatous polyposis trial, patients were treated with 4 g of ascorbic acid plus 400 mg of alpha-tocopherol per day alone or with a grain fiber supplement (22.5 g/day) over a 4-year period [16].

Biological context of Adenomatous Polyposis Coli

• We have used quantitative measures of gene expression to show that constitutional 50% decreases in expression of one adenomatous polyposis coli tumor suppressor gene (APC) allele can lead to the development of familial adenomatous polyposis [17].
• Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial adenomatous polyposis) [18].
• METHODS: This study evaluated the phenotype of 74 patients with familial adenomatous polyposis from 11 unrelated families with an identical 5-base pair deletion at codon 1309 of the APC gene [19].
• Therefore, we determined the effect of a null Nos2 genotype on intestinal tumorigenesis and Cox-2 expression/activity in the Apc(Min/+) mouse model of familial adenomatous polyposis [20].
• CONCLUSIONS: On the basis of our data, patients with attenuated familial adenomatous polyposis with >30 adenomas and no obvious vertical transmission of the disease should be considered for MYH gene testing [11].

Anatomical context of Adenomatous Polyposis Coli

• Here we show colocalization of COX-1, COX-2 and mPGES in the intestinal polyp stromal fibroblasts of Apc(Delta 716) mice, a model for familial adenomatous polyposis [21].
• Mutations in the human adenomatous polyposis coli (APC) gene are responsible for not only familial adenomatous polyposis but also many sporadic cancers of the digestive tract [22].
• Reduced levels of KLF5 mRNA were also detected in APC(min) mouse and human familial adenomatous polyposis adenomas compared with normal crypt epithelium, indicating that down-regulation of KLF5 is an early event in intestinal tumorigenesis in vivo [23].
• Previous work has shown abnormalities in the proliferative activity of the colorectal mucosa in familial adenomatous polyposis (FAP) [24].
• This study investigated the effect of a synthetic vitamin D analogue, calcipotriol, and EGF on human rectal epithelial cell proliferation in patients with familial adenomatous polyposis (FAP) [25].

Gene context of Adenomatous Polyposis Coli

• CONCLUSIONS: Nos2 plays an antineoplastic role in the Apc(Min/+) mouse model of familial adenomatous polyposis [20].
• The adenomatous polyposis coli (APC) gene, whose mutations are responsible for familial adenomatous polyposis, is a major negative controller of the Wnt/beta-catenin pathway [26].
• The effects of intrinsic APC protein alteration on beta-catenin expression levels and its subcellular localization were examined in colonic epithelia of eight patients with familial adenomatous polyposis [27].
• Cyclooxygenase-2 overexpression and tumor formation are blocked by sulindac in a murine model of familial adenomatous polyposis [28].
• Multiple intestinal neoplasia mice (a model for human familial adenomatous polyposis) were crossed with cyclin D1 knockout (Ccnd1(-/-)) mice [29].

Analytical, diagnostic and therapeutic context of Adenomatous Polyposis Coli

• BACKGROUND & AIMS: Management of patients with familial adenomatous polyposis (FAP) can consist of colectomy with ileorectal anastomosis (IRA) [30].
• Prostanoids, ornithine decarboxylase, and polyamines in primary chemoprevention of familial adenomatous polyposis [31].
• One case of non-penetrance of the familial adenomatous polyposis (FAP) gene at 59 years of age and late onset of polyps on endoscopy and biopsy in this and two other families is described [32].
• Two hundred and thirteen samples from 20 patients with familial adenomatous polyposis (FAP) were investigated by flow cytometry and the results compared with 100 sporadic adenomas [33].
• During a systematic search for germ-line APC mutations causative of familial adenomatous polyposis, we discovered what appeared to be an insertion mutation while simply checking exon 14PCR products by agarose gel electrophoresis (AGE) [34].

References