Adenomatous Polyposis Coli Protein: A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.Adenomatous Polyposis Coli: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.Genes, APC: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)beta Catenin: A multi-functional catenin that participates in CELL ADHESION and nuclear signaling. Beta catenin binds CADHERINS and helps link their cytoplasmic tails to the ACTIN in the CYTOSKELETON via ALPHA CATENIN. It also serves as a transcriptional co-activator and downstream component of WNT PROTEIN-mediated SIGNAL TRANSDUCTION PATHWAYS.Cytoskeletal Proteins: Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.Genes, Tumor Suppressor: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.Fatigue: The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli.Databases, Protein: Databases containing information about PROTEINS such as AMINO ACID SEQUENCE; PROTEIN CONFORMATION; and other properties.Intestinal Polyps: Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.Glycogen Synthase Kinase 3: A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.Centrosome: The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).Microtubule-Associated Proteins: High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and stabilize the assembled microtubules.Tubulin: A microtubule subunit protein found in large quantities in mammalian brain. It has also been isolated from SPERM FLAGELLUM; CILIA; and other sources. Structurally, the protein is a dimer with a molecular weight of approximately 120,000 and a sedimentation coefficient of 5.8S. It binds to COLCHICINE; VINCRISTINE; and VINBLASTINE.Intestinal Neoplasms: Tumors or cancer of the INTESTINES.Adenoma: A benign epithelial tumor with a glandular organization.PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Pregnancy Tests: Tests to determine whether or not an individual is pregnant.Intrauterine Devices: Contraceptive devices placed high in the uterine fundus.Contraceptives, Oral: Compounds, usually hormonal, taken orally in order to block ovulation and prevent the occurrence of pregnancy. The hormones are generally estrogen or progesterone or both.Contraception: Prevention of CONCEPTION by blocking fertility temporarily, or permanently (STERILIZATION, REPRODUCTIVE). Common means of reversible contraception include NATURAL FAMILY PLANNING METHODS; CONTRACEPTIVE AGENTS; or CONTRACEPTIVE DEVICES.Gardner Syndrome: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.Axin Signaling Complex: A specific complex of WNT SIGNALING PATHWAY proteins that mediates the phosphorylation-dependent destruction of cytosolic BETA-CATENIN. The complex is disrupted by cell surface binding of WNT PROTEINS, which allows beta-catenin levels to rise to the point where they migrate to the CELL NUCLEUS and activate transcription.Genetics: The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)Axin Protein: A scaffolding protein that is a critical component of the axin signaling complex which binds to ADENOMATOUS POLYPOSIS COLI PROTEIN; GLYCOGEN SYNTHASE KINASE 3; and CASEIN KINASE I.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Wnt Signaling Pathway: A complex signaling pathway whose name is derived from the DROSOPHILA Wg gene, which when mutated results in the wingless phenotype, and the vertebrate INT gene, which is located near integration sites of MOUSE MAMMARY TUMOR VIRUS. The signaling pathway is initiated by the binding of WNT PROTEINS to cells surface WNT RECEPTORS which interact with the AXIN SIGNALING COMPLEX and an array of second messengers that influence the actions of BETA CATENIN.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Wnt Proteins: Wnt proteins are a large family of secreted glycoproteins that play essential roles in EMBRYONIC AND FETAL DEVELOPMENT, and tissue maintenance. They bind to FRIZZLED RECEPTORS and act as PARACRINE PROTEIN FACTORS to initiate a variety of SIGNAL TRANSDUCTION PATHWAYS. The canonical Wnt signaling pathway stabilizes the transcriptional coactivator BETA CATENIN.Leukemia-Lymphoma, Adult T-Cell: Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.Leukemia, T-Cell: A malignant disease of the T-LYMPHOCYTES in the bone marrow, thymus, and/or blood.Azacitidine: A pyrimidine analogue that inhibits DNA methyltransferase, impairing DNA methylation. It is also an antimetabolite of cytidine, incorporated primarily into RNA. Azacytidine has been used as an antineoplastic agent.DNA Methylation: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.Literature, ModernOsteogenesis: The process of bone formation. Histogenesis of bone including ossification.Medicine in ArtCell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.alpha Catenin: A catenin that binds F-ACTIN and links the CYTOSKELETON with BETA CATENIN and GAMMA CATENIN.Catenins: A family of cytoskeletal proteins that play essential roles in CELL ADHESION at ADHERENS JUNCTIONS by linking CADHERINS to the ACTIN FILAMENTS of the CYTOSKELETON.Stem Cell Research: Experimentation on STEM CELLS and on the use of stem cells.Neurites: In tissue culture, hairlike projections of neurons stimulated by growth factors and other molecules. These projections may go on to form a branched tree of dendrites or a single axon or they may be reabsorbed at a later stage of development. "Neurite" may refer to any filamentous or pointed outgrowth of an embryonal or tissue-culture neural cell.TOR Serine-Threonine Kinases: A serine threonine kinase that controls a wide range of growth-related cellular processes. The protein is referred to as the target of RAPAMYCIN due to the discovery that SIROLIMUS (commonly known as rapamycin) forms an inhibitory complex with TACROLIMUS BINDING PROTEIN 1A that blocks the action of its enzymatic activity.Intestinal Polyposis: The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).Adenomatous Polyps: Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)Xenopus laevis: The commonest and widest ranging species of the clawed "frog" (Xenopus) in Africa. This species is used extensively in research. There is now a significant population in California derived from escaped laboratory animals.Xenopus Proteins: Proteins obtained from various species of Xenopus. Included here are proteins from the African clawed frog (XENOPUS LAEVIS). Many of these proteins have been the subject of scientific investigations in the area of MORPHOGENESIS and development.Colonoscopy: Endoscopic examination, therapy or surgery of the luminal surface of the colon.

Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. (1/796)

The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin. Complex formation induces the rapid degradation of betacatenin. In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]). Here, we report the identification and genomic structure of APC homologues. Mammalian APC2, which closely resembles APC in overall domain structure, was functionally analyzed and shown to contain two SAMP domains, both of which are required for binding to conductin. Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC -/- colon carcinoma cells. Human APC2 maps to chromosome 19p13.3. APC and APC2 may therefore have comparable functions in development and cancer.  (+info)

Expression of CD44 in Apc and Tcf mutant mice implies regulation by the WNT pathway. (2/796)

Overexpression of cell surface glycoproteins of the CD44 family is an early event in the colorectal adenoma-carcinoma sequence. This suggests a link with disruption of APC tumor suppressor protein-mediated regulation of beta-catenin/Tcf-4 signaling, which is crucial in initiating tumorigenesis. To explore this hypothesis, we analyzed CD44 expression in the intestinal mucosa of mice and humans with genetic defects in either APC or Tcf-4, leading to constitutive activation or blockade of the beta-catenin/Tcf-4 pathway, respectively. We show that CD44 expression in the non-neoplastic intestinal mucosa of Apc mutant mice is confined to the crypt epithelium but that CD44 is strongly overexpressed in adenomas as well as in invasive carcinomas. This overexpression includes the standard part of the CD44 (CD44s) as well as variant exons (CD44v). Interestingly, deregulated CD44 expression is already present in aberrant crypt foci with dysplasia (ACFs), the earliest detectable lesions of colorectal neoplasia. Like ACFs of Apc-mutant mice, ACFs of familial adenomatous polyposis (FAP) patients also overexpress CD44. In sharp contrast, Tcf-4 mutant mice show a complete absence of CD44 in the epithelium of the small intestine. This loss of CD44 concurs with loss of stem cell characteristics, shared with adenoma cells. Our results indicate that CD44 expression is part of a genetic program controlled by the beta-catenin/Tcf-4 signaling pathway and suggest a role for CD44 in the generation and turnover of epithelial cells.  (+info)

Analysis of masked mutations in familial adenomatous polyposis. (3/796)

Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the development of hundreds of adenomatous polyps of the colorectum. Approximately 80% of FAP patients can be shown to have truncating mutations of the APC gene. To determine the cause of FAP in the other 20% of patients, MAMA (monoallelic mutation analysis) was used to independently examine the status of each of the two APC alleles. Seven of nine patients analyzed were found to have significantly reduced expression from one of their two alleles whereas two patients were found to have full-length expression from both alleles. We conclude that more than 95% of patients with FAP have inactivating mutations in APC and that a combination of MAMA and standard genetic tests will identify APC abnormalities in the vast majority of such patients. That no APC expression from the mutant allele is found in some FAP patients argues strongly against the requirement for dominant negative effects of APC mutations. The results also suggest that there may be at least one additional gene, besides APC, that can give rise to FAP.  (+info)

Administration of an unconjugated bile acid increases duodenal tumors in a murine model of familial adenomatous polyposis. (4/796)

Intestinal carcinogenesis involves the successive accumulation of multiple genetic defects until cellular transformation to an invasive phenotype occurs. This process is modulated by many epigenetic factors. Unconjugated bile acids are tumor promoters whose presence in intestinal tissues is regulated by dietary factors. We studied the role of the unconjugated bile acid, chenodeoxycholate, in an animal model of familial adenomatous polyposis. Mice susceptible to intestinal tumors as a result of a germline mutation in Apc (Min/+ mice) were given a 10 week dietary treatment with 0.5% chenodeoxycholate. Following this, the mice were examined to determine tumor number, enterocyte proliferation, apoptosis and beta-catenin expression. Intestinal tissue prostaglandin E2 (PGE2) levels were also assessed. Administration of chenodeoxycholate in the diet increased duodenal tumor number in Min/+ mice. Promotion of duodenal tumor formation was accompanied by increased beta-catenin expression in duodenal cells, as well as increased PGE2 in duodenal tissue. These data suggest that unconjugated bile acids contribute to periampullary tumor formation in the setting of an Apc mutation.  (+info)

Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. (5/796)

OBJECTIVE: Using an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined. SUMMARY BACKGROUND DATA: Germline mutations in the APC gene predispose to FAP. Established and proposed genotype-phenotype correlations as well as the influence of mutation site on surgical procedures have been reported. The predictive value of APC mutation analysis for disease manifestation and therapeutic decision making needs to be investigated further. METHODS: One hundred twenty-three kindreds of the local FAP registry were included in this study. CHRPE phenotype was defined as at least one large characteristic lesion or a total of four lesions in both eyes. APC mutations were identified by protein truncation test and automated DNA sequencing from patient lymphocyte DNA and RNA. RESULTS: APC germline mutations were identified in 85/123 families with FAP. They were located between codons 213 and 1581 of the APC gene and displayed distinct genotype-phenotype correlations. CHRPE status facilitated mutation analysis by discriminating regions of interest within the APC coding region. Severe manifestations of desmoids were restricted to mutations between codons 1444 through 1581. Whereas 91% (75/82) of at-risk persons were excluded as mutation carriers, APC germline mutations were detected before clinical examination in 9% (7/82) of at-risk persons. One patient agreed to endoscopy only after mutation detection. CONCLUSIONS: This study supports the feasibility of combined molecular and clinical screening of families with FAP and may provide a guideline for routine presymptomatic molecular diagnostics in a clinical laboratory.  (+info)

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. (6/796)

Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors. Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of the APC gene. The truncating mutation is the result of a 337-bp insertion of an Alu I sequence into codon 1526 of the APC gene. The presence of a poly(A) tail at the 3' end of the insertion suggests that the Alu I sequence was inserted by a retrotranspositional event. Germline insertions of Alu I sequences have occasionally been reported to cause other genetic diseases including type I neurofibromatosis, hereditary site-specific breast cancer (BRCA2), and hemophilia B. However, this is the first report of a germline mutation of the APC gene resulting from an Alu I insertion.  (+info)

Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis. (7/796)

BACKGROUND: Mutations of the APC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome. AIMS: To conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer. METHODS: All direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model. RESULTS: The baseline analysis predicted that screening a prototype FAP family would cost $4975/ pound3109 by molecular testing and $8031/ pound5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if the APC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/ pound4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives. CONCLUSIONS: In FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.  (+info)

Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. (8/796)

Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis. Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life. The severity of the disease correlates with the position of the inherited APC mutation (genotype-phenotype correlation). Together with the fact that both germ-line and sporadic APC mutations cluster in the central region of the APC gene, this points to a dominant negative effect of certain APC mutants. Loss of APC function was recently shown to result in enhanced beta-catenin-/Tcf-mediated transcription in colon epithelial cells. Here, we provide experimental evidence for a dominant negative effect of APC gene products associated with severe polyposis. Wild-type APC activity in beta-catenin-/Tcf-mediated transcription was strongly inhibited by a mutant APC that is truncated at codon 1309. In contrast, mutant APC gene products that are associated with attenuated polyposis (codon 386 or 1465) interfered only weakly with wild-type APC activity. These results suggest a molecular explanation for the genotype-phenotype correlation in FAP patients and support the idea that colorectal tumor growth might be, in part, driven by selection for a mutation in the mutation cluster region.  (+info)

BACKGROUND: The reported proportion of patients with familial adenomatous polyposis who have adrenal lesions varies between 7% and 13% compared with 4% in the general population; the prevalence of adrenal lesions in patients with attenuated familial adenomatous polyposis and MUTYH-associated polyposis is unknown. Data on the clinical relevance and clinical course are limited. OBJECTIVE: We aimed to report on the frequency, characteristics, and progression of adrenal lesions in polyposis patients. DESIGN: This was a historical cohort study. SETTINGS: The study was performed at the Academic Medical Center, Amsterdam. PATIENTS: All of the patients with familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis were included. Medical charts and imaging reports were analyzed for data on adrenal lesions. A radiologist reassessed all of the images. Patients had not routinely been screened for adrenal lesions. MAIN OUTCOME MEASURES: The frequency, ...
What is familial adenomatous polyposis fap? Learn about familial adenomatous polyposis fap symptoms, familial adenomatous polyposis fap causes, diagnosis, and...
TY - JOUR. T1 - Variable phenotype of familial adenomatous polyposis in pedigrees with 3 mutation in the APC gene. AU - Brensinger Trimbath, Jill. AU - Laken, S. J.. AU - Luce, M. C.. AU - Powell, S. M.. AU - Vance, G. H.. AU - Ahnen, D. J.. AU - Petersen, G. M.. AU - Hamilton, S. R.. AU - Giardiello, Francis M. PY - 1998. Y1 - 1998. N2 - Background - Germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5 causes familial adenomatous polyposis. Attenuated phenotype has been reported with mutation in the 5 end of the gene (5 to codon 158), but genotype-phenotype relations at the 3 end (3 to codon 1596) have not been described fully. Aims - To describe and compare colorectal and extracolonic phenotypes in a case series of families with mutation in the 3 end of the APC gene. Methods - Thirty one at risk or affected members from four families with a mutation in the APC gene located at codon 1979 or 2644 were evaluated. Results - Variable intrapedigree colorectal ...
BACKGROUND: Familial adenomatous polyposis (FAP) is caused by germline mutation of the adenomatous polyposis coli (APC) gene on chromosome 5q. AIMS: This study assessed genotype-phenotype correlations for extraintestinal lesions in FAP. METHODS: Mutations of the APC gene were compared with the occurrence of seven extraintestinal manifestations in 475 FAP patients from 51 families. The frequency of manifestations was adjusted for different ages of patients using person years of exposure. In pedigrees without identified APC gene mutation, analysis of linkage to chromosome 5q and/or assessment of neoplasms for replication errors characteristic of mutation in mismatch repair genes were performed. RESULTS: FAP patients from the 42 families (82%) with identified mutations of the APC gene had more frequent expression of extraintestinal manifestations than affected individuals without identified mutations (risk ratio 1.2-4.0; significant difference for cutaneous cysts). The presence of a cutaneous cyst ...
The root cause of FAP is understood to be a genetic mutation-a flaw in the bodys tumour suppressor genes that prevent development of tumours. The flaw allows numerous cells of the intestinal wall to develop into potentially cancerous polyps when they would usually reach the end of their life; inevitably one or more will eventually progress and give rise to cancer (7% risk by age 21, rising to 87% by age 45 and 93% by age 50). The flawed genes do not trigger cancer, but rather, they reduce the bodys ability to protect against the risk of aged cells becoming cancerous. Even with the flawed gene, it may still take time before a cell actually does develop that is cancerous as a result, and the gene may in some cases still partially operate to control tumours, therefore cancer from FAP takes many years to develop and is almost always an adult-onset disease. The second form of FAP, known as attenuated familial adenomatous polyposis has the APC gene functional but slightly impaired. It is therefore ...
RATIONALE: Exisulind may be effective in preventing the development and growth of polyps in patients who have familial adenomatous polyposis.. PURPOSE: Randomized phase II/III trial to determine the effectiveness of exisulind in preventing the development and growth of polyps in patients who have familial adenomatous polyposis. ...
An adenoma is a polyp made up of tissue that looks much like the normal lining of your colon, although it is different in several important ways when it is looked at under the microscope. The growth pattern is only important because it helps determine when you will need your next colonoscopy to make sure you dont develop colon cancer in the future. Cell overgrowth resulting from mutations in the APC gene leads to the adenomatous polyps of the colon colon polyps seen in familial adenomatous polyposis. There are 2 major growth patterns: tubular and villous. In addition to this, a stroboscope (flashing light) may be used to observe the movement of the vocal folds during speech. Adenomas with a villous growth pattern are also more likely to have cancers develop in them. Erratum in: Gastroenterology. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. Larger adenomas more often have cancers developing in them. The average ...
... (FAP) is a genetic condition that causes growths of tissue (polyps) to develop in the large intestine (colon) and rectum. If these polyps are not removed, the polyps will become cancerous with time. There are three forms of FAP: classic, attenuated (milder), and autosomal recessive FAP. In the classic form, a person can have thousands of polyps and usually develops colon cancer in their 30s. In attenuated FAP, colon cancer usually does not develop until a person is in their 50s. In autosomal recessive FAP, a person usually develops less than 100 polyps. In addition to polyps and colon cancer, FAP can also cause noncancerous growths in the intestines (desmoid tumors) as well as cancerous and noncancerous growths in other parts of the body, including part of the small intestine (duodenum), stomach, bones, and skin.. Both classic and attenuated FAP are caused by a change (mutation) in the APC gene, while autosomal recessive FAP is caused by mutations in the MUTYH ...
Familial adenomatous polyposis (FAP) - caused by an inherited gene mutation - can lead to multiple polyps in the colon and rectum. Attenuated FAP is a milder form.
The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. The Apc gene product (APC), basically a cytoplasmic protein, blocks cell cycle
TY - JOUR. T1 - Regression of colorectal adenomas with intravenous cytotoxic chemotherapy in a patient with familial adenomatous polyposis [21]. AU - Jones, Douglas H.. AU - Silberstein, Peter T.. AU - Lynch, Henry. AU - Ternet, Charles. PY - 2005/12/1. Y1 - 2005/12/1. UR - http://www.scopus.com/inward/record.url?scp=24944588840&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=24944588840&partnerID=8YFLogxK. U2 - 10.1200/JCO.2005.00.0570. DO - 10.1200/JCO.2005.00.0570. M3 - Letter. C2 - 16135505. AN - SCOPUS:24944588840. VL - 23. SP - 6278. EP - 6280. JO - Journal of Clinical Oncology. JF - Journal of Clinical Oncology. SN - 0732-183X. IS - 25. ER - ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
Familial adenomatous polyposis (FAP) is a condition that can run in families. Untreated FAP can increase the risk of getting bowel cancer.
The Food and Drug Administration (FDA) recently approved celecoxib (Celebrex) as an oral adjunct to the standard care (eg, endoscopic surveillance and surgery) of patients with familial adenomatous polyposis (FAP). Celecoxib, the only 1
Familial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine.
Familial adenomatous polyposis - Learn about this inherited condition that increases risk of colon cancer. Highlights care at Mayo Clinic.
Learn more about Familial Adenomatous Polyposis at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Compare risks and benefits of common medications used for Familial Adenomatous Polyposis. Find the most popular drugs, view ratings, user reviews, and more...
Learn more about Familial Adenomatous Polyposis at Medical City Dallas DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
AbstractPURPOSE:The aim of this study is to show that the diagnosis of attenuated adenomatous polyposis coli must be made with caution and certainly only after adequate colonic examination with dye-spray.METHODS:Four patients thought to have attenuated adenomatous polyposis coli on the basis of fami
Sinicrope, Frank A. et al "Cell Proliferation and Apoptotic Indices Predict Adenoma Regression in a Placebo-Controlled Trial of Celecoxib in Familial Adenomatous Polyposis Patients." Cancer Epidemiology and Prevention Biomarkers 13.6 (2004): 920-927. Web. 16 Dec. 2017. ...
This will be a single-center, phase-II, six-month-long, placebo-controlled, double blinded, randomized trial of the epidermal growth factor receptor (EGFR) inhibitor, erlotinib (Tarceva) and the cyclooxygenase (COX-2) inhibitor, sulindac in patients with familial adenomatous polyposis (FAP) or attenuated FAP. FAP is an autosomal dominant inherited colon cancer predisposition with a 100% risk of colon cancer in the absence of preventive care (endoscopy and surgery). Efficacious chemoprevention for duodenal adenomas is an unmet clinical need in FAP patients that would reduce the morbidity from duodenectomy and risk of duodenal adenocarcinoma. Currently the only Food and Drug Administration (FDA)-approved chemopreventive agent is celecoxib which results in a modest reduction of duodenal and colorectal polyps and is associated with cardiac toxicity at effective doses. If it can be shown that combinatorial inhibition of COX-2 and EGFR activity leads to successful regression in duodenal adenomatous ...
Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage studies. Cells from patients with deletions in this region, in one case associated with polyposis in a family, have been used to construct human hamster hybrid cell lines that retain either the normal or deleted chromosome 5. These lines have been used to identify markers from the region of the polyposis gene obtained by cloning the ends of 0.5- to 2-megabase BssHII fragments purified by pulsed-field gel electrophoresis. Three markers are described that map within the deletions and must therefore be close to the APC gene.
There is growing evidence to support the idea that accumulated genetic changes in important genes, occurring in vulnerable cells, ultimately leads to the development of neoplasia. This process is well illustrated by colorectal cancer in which there is progressive accumulation of mutations during the gradual transition from normal mucosa to carcinoma.1,2 One of the earliest mutations in colonic carcinogenesis occurs at the adenomatous polyposis coli (APC) gene.3 Hyperproliferation is believed to develop in preneoplastic epithelium, implying that an APC mutation is involved in the process. None the less, a recent study of preneoplastic intestine of human familial adenomatous polyposis (FAP) and multiple intestinal neoplasia (MIN) mice which harbour the APC mutations has shown that the major abnormality is elevated rates of crypt fission, a process that begins by basal bifurcation and is followed by longitudinal division of the crypt.4,5 In the same study, direct observations of three dimensional ...
A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The scope of GTR includes single gene tests for Mendelian disorders, somatic/cancer tests and pharmacogenetic tests including complex arrays, panels ...
Compare & find the top performing anti-Rat (Rattus) Adenomatous Polyposis Coli antibody for Immunohistochemistry (Paraffin-embedded Sections) (IHC (p)).
Polyposis Syndromes of the Colon Current Management, Controversies and Future Direction. Eric J. Dozois, MD Division of Colon & Rectal Surgery Mayo Clinic Rochester, Minnesota. Polyposis Schema. Inherited Polyposis Syndromes. Adenomatous Syndrome : Familial adenomatous polyposis...
Background: Colectomy and ileorectal anastomosis (IRA) or restorative proctocolectomy are performed for prophylaxis in familial adenomatous polyposis (FAP). After IRA patients may require secondary proctectomy for worsening polyposis or rectal cancer. Outcomes after IRA were evaluated and risk factors predictive of progressive rectal disease identified. Methods: Parametric survival analysis was used to identify predictors of progressive rectal disease in all patients undergoing an IRA for FAP at a single centre. Hazard ratios (HRs) were calculated for phenotype, genotype, sex, age at surgery and presence of colonic cancer. Results: Of 427 patients who underwent IRA, 48 (11.2 per cent) developed rectal cancer and 77 (18.0 per cent) required proctectomy for worsening polyposis over a median follow-up of 15 (range 7-25) years. By the age of 60 years half of the patients retained their rectum. Rectal polyp count exceeding 20 (HR 30.99, 95 per cent confidence interval 9.57 to 100.32; P , 0.001), APC ...
Background: The Adenomatous Polyposis Coli (APC) gene is considered as a gatekeeper in colorectal tumorigenesis. 60% of somatic mutations in the APC gene are concentrated..
Figure 2 (a) Image showing the entire colon of the third-generation Familial Adenomatous Polyposis (FAP) patient, which was removed by Abdomino Perineal Resection (APR) Method. (b) Image showing the inner lining of the colon, revealing hundreds of polyps all over the surface of the colon and a rosette-shaped malignant tumor at the transverse section of the colon. (c) A close-up of the rosette-shaped malignancy of the colon. The tumor was classified as T4N2M1. Histopathology revealed the tumor to be poorly-differentiated adenocarcinoma Original file name: IJHG-15-143-g002.jpg [1] ...
Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. FAP with an APC gene mutation follows an autosomal dominant inheritance pattern. In autosomal dominant inheritance, a mutation happens in only 1 copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. However, if the parents test negative for the mutation, the risk to the siblings significantly decreases but their risk may still be higher than an average risk.. Options exist for people interested in having a child when a prospective parent carries a gene mutation that increases the risk for a hereditary cancer syndrome. Preimplantation genetic diagnosis (PGD) is a medical procedure done in ...
Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). In addition, approximately 80% of all sporadic colorectal tumours have mutations in APC (Polakis, 1997). Consistent with Knudsons `two-hit hypothesis, tumour cells from FAP patients and sporadic cases harbour mutations in both APC alleles, indicating that APC is a classic tumour suppressor. The tumour suppressor function of APC is now well established (Bienz and Clevers, 2000; van Es et al., 2001). In the absence of Wnt signals, APC facilitates phosphorylation of β-catenin by GSK3β, thus targeting β-catenin for ubiquitin-mediated degradation. Following activation of the Wnt pathway, APC/GSK3β-mediated phosphorylation of β-catenin is down regulated allowing β-catenin to accumulate, which in turn results in transcriptional activation of a number of proliferative genes (Fearnhead et al., 2001; van Es et al., 2001). Upon loss of APC function, β-catenin accumulates in the ...
Several lines of evidence support the role of COX-2-dependent PGE2 in colon tumorigenesis (Wang and Dubois, 2010). Thus, in FAP, the administration of the selective COX-2 inhibitor celecoxib (400 mg/b.i.d.) was associated with a significant reduction of the number of colorectal polyps by approximately one-third (Steinbach et al., 2000). However, marked variability in the response to celecoxib was noted (Steinbach et al., 2000). We hypothesized that the inhibition of vascular COX-2-dependent PGI2 may contribute to the variable response to celecoxib in this setting. In fact, PGI2 may control angiogenesis by preventing endothelial activation and platelet release of angiogenic factors present in α-granules (Menter et al., 1987). Thus, we performed the present study to investigate the biosynthesis of PGI2 and TXA2, two key mediators of CV homeostasis (Grosser et al., 2006), and PGE2, a well known mediator of inflammation and tumorigenesis (Wang and Dubois, 2010) in intestinal neoplasia. We aimed to ...
Slide 91 [WebScope] [ImageScope]. Colonic Adenomas in Familial Adenomatous Polyposis (FAP) and Colonic Carcinoma. In both of these slides, there is neoplastic epithelium that lines tubular structures. First, check the normal crypt epithelium to see what it looks like. It has many goblet cells alternating with squeezed columnar cells, and the nuclei of both cell types are small, uniform, and located at the base of the cells. In contrast, the neoplastic epithelium is different. In Slide 90, from a patient with familial adenomatous polyposis, there are many adenomas of different sizes within the mucosa. In the adenomas, the epithelium tends to be more uniform than in the carcinoma, but both types of epithelium have neoplastic (dysplastic) features. The nuclei are crowded, hyperchromatic, stratified, and take up a greater portion of the cell than they do in normal colonic epithelium. Since there is plenty of normal mucosa for comparison, these differences should be readily apparent. Notice also that ...
Clinical Aspects of Total Colectomy. Laparoscopic Versus Open Technique for Familial Adenomatous Polyposis and Ulcerative Colitis.:Laparoscopic Versus Open Technique for Familial Adenomatous Polyposis and Ulcerative Colitis (1998 ...
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The assisted conception unit at University College Hospital is the United Kingdoms first clinic to be granted a licence to perform pre-implantation genetic diagnosis (PGD) to select embryos that are free of the genetic mutation that leads to familial adenomatous polyposis (FAP).. Four couples affected by the condition, and who have a 50% chance of passing the mutated gene to a child, will start treatment for the procedure at the end of the year.. Until now, the only reproductive option for families carrying the FAP gene has been for the fetus to be tested for the condition during pregnancy, with the option of termination if it is found to have inherited the condition.. Familial adenomatous polyposis affects between 1 in 26 000 and 1 in 44 000 people in the United Kingdom. It leads to multiple rectal and colon cancers in early adulthood for almost all of those affected by the condition.. Most opt to have prophylactic surgery to remove the colon, usually in their teens.. The new licence is the ...
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Colon and rectal cancer incidence was negligible before 1900. The incidence of colorectal cancer has been rising dramatically following economic development and industrialization.
This chapter provides an overview of several examples of molecular biology applications in this rapidly advancing field. Not all present biomarkers can be detected in tissues that are routinely available in pathology laboratories. There is an ongoing effort to adapt techniques that work well with fresh, unfixed tissues to specimens such as formalin-fixed paraffin-embedded needle biopsy material and cytology smear material. Ligase chain reaction and similar techniques are presently used for the detection of microorganisms in tissues by labeling the oligonucleotides with organism-specific sequences. This process can also be used for detection and quantitation of the expression of specific genes in tissues. The study of familial adenomatous polyposis has demonstrated the presence of adenomatous polyposis coli gene mutations in 5q21. The study of molecular pathways of carcinogenesis has highlighted various molecules that are now therapeutic targets. A relatively simple method of examining hundreds of tissue
MAP predisposes to colorectal adenomas and carcinoma, the numbers of adenomatous polyps being in the tens to hundreds, rather than hundreds to thousands as seen in FAP, so it overlaps clinically with FAP and attenuated FAP (AFAP) due to APC mutation. It is caused by the recessive inheritance of biallelic mutations in MUTYH, which encodes mutY-homologue, a component of the oxidative DNA damage repair pathway.. Carrier frequency in most populations is between 1/100 and 1/200, so pseudodominant inheritance is quite possible and has been observed. Note should be taken of consanguinity.. Notably, tumours due to MAP may loose MMR protein expression due to somatic hits in such tumours, and thus exhibit MSI, and appear to be due to LS when they are not (Lynch-like syndrome). In addition, as gene panel testing becomes more available, patients are being found who,intriguingly, have a single mutation in MUTYH and a variant in another colorectal adenoma/carcinoma predisposition gene.. ...
The adenomatous polyposis coli (APC) gene is mutated in familial adenomatous polyposis and in many sporadic colorectal tumors. The carboxyl-terminal S/TXV motif of the APC gene product interacts with the PDZ domain of hDLG, the human homolog of the Drosophila lethal (1) discs larige-1 (dlg) tumor su …
Familial adenomatous polyposis (FAP) is a colonic cancer syndrome which runs in families. It presents as mutliple adenomas in the colon which will become cancer of colon unless the colon is removed surgically.Though the cancer will present in the thirties, we have seen this presenting even at an age of 9 or 10.This runs in families caused by adenomatous polyposis coli (APC) gene, located on chromosome 5q21 ...
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Because FAP has such an early age of onset, cancer screening often begins in childhood. In addition, genetic testing of children at risk is a special consideration. Usually, genetic tests are not an option for people who are considered minors unless there is some type of medical benefit available to justify testing. FAP is an autosomal dominant cancer genetic syndrome, which means that a child whose parent has the condition has a 50/50 chance of inheriting the familial APC gene mutation. There is equally as likely a chance the child will not inherit the familial APC mutation, which would spare the child from having to undergo annual examinations (for example, sigmoidoscopy or colonoscopy) if he or she was found to be mutation negative. Thus, since genetic testing can have an impact on medical management, genetic testing of children at risk of classic FAP is an option that can be considered.. The APC gene is a tumor suppressor gene, which usually has the job of controlling cell growth and cell ...
Smits, R. and Ruiz, P. and Diaz-Cano, S. and Luz, A. and Jagmohan-Changur, S. and Breukel, C. and Birchmeier, C. and Birchmeier, W. and Fodde, R. ...
APC | Colorectal Cancer Atlas| Colon Atlas | Colorectal Cancer Database | Colorectal Cancer | Proteogenomics |Proteomics | This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
Background In a large number of patients with multiple gastrointestinal adenomatous polyps, no causal germline mutation can be found. Non-genetic factors may contribute to the development of...
INTRODUCTION: The resolution of pouchitis with metronidazole points to an anaerobic aetiology. Pouchitis is mainly seen in patients with ulcerative colitis pouches (UCP). We have recently found that sulphate reducing bacteria (SRB), a species of strict anaerobe, colonize UCP exclusively. Herein, we aimed to correlate levels of different bacterial species (including SRB) with mucosal inflammation and morphology. METHODS: Following ethical approval, fresh faecal samples and mucosal biopsies were taken from 9 patients with UCP and 5 patients with familial adenomatous polyposis pouches (FAPP). For the purposes of comparison, faecal samples and mucosal biopsies were also taken from the stomas of 7 of the 9 patients with UC (UCS). Colonization by four types of strict anaerobes (SRB, Clostridium perfringens, Bifidobacteria and Bacteroides) as well as by three types of facultative anaerobes (Enterococci, Coliforms and Lactobacilli) was evaluated. Inflammatory scores and mucosal morphology were assessed ...
PLAG1 Adenomatous polyposis coli; 175100; APC Adenosine deaminase deficiency, partial; 102700; ADA Adenosine triphosphate, ... GPR56 Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A Polyposis, juvenile intestinal; 174900; BMPR1A Polyposis, ... OPN1SW Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH Colorectal cancer; 114500; ... AHI1 Juvenile polyposis syndrome, infantile form; 174900; BMPR1A Juvenile polyposis/hereditary hemorrhagic telangiectasia ...
Many other large IDPs are affected by missense mutations, such as BRCA1, Adenomatous polyposis coli(APC), CREB-binding protein ... Ikeda S, Kishida M, Matsuura Y, Usui H, Kikuchi A (2000). "GSK-3beta-dependent phosphorylation of adenomatous polyposis coli ... Spink KE, Polakis P, Weis WI (2000). "Structural basis of the Axin-adenomatous polyposis coli interaction". EMBO J. 19 (10): ... Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ...
Regulation of caspase expression and apoptosis by adenomatous polyposis coli. Cancer Research. 2003 Aug 1;63(15):4368-74. PMID ...
For instance, point mutations in Adenomatous Polyposis Coli promote tumorigenesis. A novel assay, Fast parallel proteolysis ( ...
Aoki K, Taketo MM (October 2007). "Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene". J. Cell Sci. ... Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene. In this disorder ... Galiatsatos P, Foulkes WD (February 2006). "Familial adenomatous polyposis". Am. J. Gastroenterol. 101 (2): 385-98. doi:10.1111 ... Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterised by hamartomatous intestinal polyposis, macrocephaly, ...
Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (2001). "A role for the Adenomatous Polyposis Coli protein in ...
1991). "Identification and characterization of the familial adenomatous polyposis coli gene". Cell. 66 (3): 589-600. doi: ... Familial Adenomatous Polyposis (FAP) is a hereditary disease that is characterized with development of numerous colon polyps. A ... 1999). "Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene". EMBO J. 18 (21): 5931-42. doi: ... 1998). "Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice". Cancer Res. 58 (6): 1087-9. PMID 9515784. Engle ...
2001). "A role for the Adenomatous Polyposis Coli protein in chromosome segregation". Nat. Cell Biol. 3 (4): 429-32. doi: ... cancer adenomatous polyposis osteosarcoma familial breast cancer glioblastoma cervicitis lung cancer carcinoma Coli polyposis ...
"Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein". Proc. Natl. Acad. Sci. U.S.A. ...
Although one molecule of axin only contains a single β-catenin recruitment motif, its partner the Adenomatous Polyposis Coli ( ... Through its N-terminal regulator of G-protein signaling (RGS) domain, it recruits the adenomatous polyposis coli (APC) protein ... "Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin ... and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene. Therefore, ...
Akt phosphorylates GSK3 beta, indirectly activating microtubule binding protein adenomatous polyposis coli (APC). Endothelial ...
"Haploinsufficiency of Krüppel-like factor 4 promotes adenomatous polyposis coli dependent intestinal tumorigenesis". Cancer ...
Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ...
Berrueta L, Kraeft SK, Tirnauer JS, Schuyler SC, Chen LB, Hill DE, Pellman D, Bierer BE (1998). "The adenomatous polyposis coli ... The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene ... a new member of the adenomatous polyposis coli-binding EB1-like gene family, is differentially expressed in activated T cells ...
2006). "Adenomatous polyposis coli (APC) is required for normal development of skin and thymus". PLoS Genet. 2 (9): e146. doi: ...
The protein encoded by this gene was first identified by its binding to the APC (Adenomatous polyposis coli) protein which is ... "The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules". Proc. Natl. Acad. ...
July 2008). "Regulation of the adenomatous polyposis coli gene by the miR-135 family in colorectal cancer". Cancer Research. 68 ...
1991). "A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene". Nucleic Acids Res. 19 (22): 6348. doi: ... a gene of the familial adenomatous polyposis (FAP) locus". Gene. 169 (2): 215-8. doi:10.1016/0378-1119(95)00827-6. PMID 8647449 ... 1991). "Identification of deletion mutations and three new genes at the familial polyposis locus". Cell. 66 (3): 601-13. doi: ... 2006). "HCCR-1-interacting molecule "deleted in polyposis 1" plays a tumor-suppressor role in colon carcinogenesis". ...
APC is a tumour suppressor gene which is associated with the inherited disease adenomatous polyposis coli (APC). It is thought ...
It is also dependent on several microtubule-associated proteins such as EB1 and adenomatous polyposis coli (APC). Mitosis, ...
... of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance ...
"Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein". Molecular Cell ...
Minde DP, Radli M, Forneris F, Maurice MM, Rüdiger SG (2013). "Large extent of disorder in Adenomatous Polyposis Coli offers a ... "Large Extent of Disorder in Adenomatous Polyposis Coli Offers a Strategy to Guard Wnt Signalling against Point Mutations". PLoS ... Baldness treatments GPR177 Adenomatous polyposis coli AXIN1 Casein kinase 1 Zhang, Haiwei. "Dishevelled-DEP domain interacting ... This destruction complex includes the following proteins: Axin, adenomatosis polyposis coli (APC), protein phosphatase 2A (PP2A ...
Knockout of this gene in mice with the adenomatous polyposis coli mutation also causes a decrease in the size and number of pre ... certain forms of malignant disease such as colon cancer including those that arise from Adenomatous polyposis coli mutations; ...
The gene associated with colorectal cancer is the adenomatous polyposis coli (APC), which is a classic tumor suppressor gene. ...
... the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in colorectal ... The assembled complex of hslV (blue) and hslU (red) from E. coli. This complex of heat shock proteins is thought to resemble ...
Truncation mutations in the adenomatous polyposis coli protein (APC) are responsible for familial polyposis, a form of ... adenomatous polyposis coli protein. Summary. Summary: A negative regulator of beta-catenin signaling which is mutant in ... adenomatous polyposis coli*apc genes*colorectal neoplasms*trans activators*colonic neoplasms*neoplastic gene expression ... We find that RNAi-mediated depletion of two kMAPs, the adenomatous polyposis coli protein (APC) and its binding partner, EB1, ...
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME. ... Adenomatous Polyposis Coli (Familial Adenomatous Polyposis) 01/01/2008 - "The adenomatous polyposis coli gene functions as a ... Adenomatous Polyposis Coli Protein. Subscribe to New Research on Adenomatous Polyposis Coli Protein ... 07/15/1994 - "The adenomatous polyposis coli protein (APC) is mutated in familial adenomatous polyposis patients as well as in ...
The disease occurs due to the mutations in Adenomatous Polyposis Coli (APC) gene - a tumor suppressor gene that encodes ... Gardner syndrome is a rare variant of familial adenomatous polyposis - a condition characterized by multiple benign tumors in ...
Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ... entry on APC-Associated Polyposis Conditions OMIM entries on APC-Associated Polyposis Conditions Adenomatous Polyposis Coli ... The (Adenomatous Polyposis Coli) APC protein normally builds a "destruction complex" with glycogen synthase kinase 3-alpha and ... Rosenberg MM, Yang F, Giovanni M, Mohn JL, Temburni MK, Jacob MH (June 2008). "Adenomatous polyposis coli plays a key role, in ...
Adenomatous polyposis coli (IPR026836). Short name: APC Family relationships *Adenomatous polyposis coli (APC) family ( ... Adenomatous polyposis coli (APC) is a tumor suppressor protein that induces the degradation of oncogenic beta-catenin and ... Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene.. J. Cell. Sci. 120 3327-35 2007 ... Structural basis for the recognition of Asef by adenomatous polyposis coli.. Cell Res. 22 372-86 2012 ...
Adenomatous polyposis coli (APC) family (IPR026818) *Adenomatous polyposis coli (IPR026836). *Adenomatous polyposis coli 2 ( ... Adenomatous polyposis coli (APC) family (IPR026818). Short name: Apc_fam Overlapping homologous superfamilies *Adenomatous ... The adenomatous polyposis coli protein family also includes APC2 [PMID: 10021369, PMID: 11691822] and APC-related protein 1 [ ... Adenomatous polyposis coli (APC) is a tumor suppressor protein that induces the degradation of oncogenic beta-catenin and ...
Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as ... Mutations of the APC (adenomatous polyposis coli) gene Hum Mutat. 1993;2(6):425-34. doi: 10.1002/humu.1380020602. ... Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as ...
Identification and characterization of the familial adenomatous polyposis coli gene.. Groden J1, Thliveris A, Samowitz W, ... DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and ...
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules. Lisbeth Berrueta, ... The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules ... The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules ... The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules ...
... gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. The Apc gene product (APC), basically a ... The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. The ... adenomatous polyposis coli (Apc) gene β-catenin synapse tumor suppressor Wnt signaling ... Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (2001) A role for the adenomatous polyposis coli protein in ...
Chemoprevention of spontaneous intestinal adenomas in the adenomatous polyposis coli Min mouse model with aspirin.. Barnes CJ1 ... if aspirin would significantly inhibit gastrointestinal tumor formation in a mouse model of familial adenomatous polyposis. ...
Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA. The safety and scientific validity of this study ... Familial Adenomatous Polyposis Coli FAP Drug: Eicosapentanoic Acid (EPA) Procedure: Endoscopy Procedure: Biopsies taken Drug: ... Familial Adenomatous Polyposis Coli. FAP. resolvin. Ileo-rectal anastomosis. IRA. PUFA. Endoscopy. ... Adenomatous Polyposis Coli. Intestinal Neoplasms. Gastrointestinal Neoplasms. Digestive System Neoplasms. Neoplasms by Site. ...
3 The abbreviations used are: APC, adenomatous polyposis coli; FAP, familial adenomatous polyposis; GI, gastrointestinal tract ... Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer Manel Esteller, Andrew Sparks, Minoru Toyota, ... Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer Manel Esteller, Andrew Sparks, Minoru Toyota, ... Analysis of Adenomatous Polyposis Coli Promoter Hypermethylation in Human Cancer Manel Esteller, Andrew Sparks, Minoru Toyota, ...
... Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), Turcot ... APC-associated polyposis conditions result from germline mutations in the adenomatous polyposis coli (APC, OMIM# 611731) gene ... Most cases of Familial adenomatous polyposis (FAP) are caused by germ-line mutations in the APC gene.1 FAP is an autosomal ... more than 100 colorectal adenomatous polyps or ii) fewer than 100 colorectal adenomatous polyps and a family relative with FAP ...
Compare and order Adenomatous Polyposis Coli ELISA Kits. View citations, images, detection ranges, sensitivity, prices and more ... adenomatosis polyposis coli , adenomatous polyposis coli protein , multiple intestinal neoplasia , adenomatosis polyposis coli ... Adenomatous Polyposis Coli ELISA Kit. 18 products by 10 suppliers: Abbexa , EIAab , Assay Biotechnology , Cloud-Clone , ... tumor suppressor , deleted in polyposis 2.5 , protein phosphatase 1, regulatory subunit 46 , adenomatous polyposis coli homolog ...
Complex Function in the Wnt Signaling Pathway of Drosophila Requires Multiple Interactions Between Adenomatous Polyposis Coli 2 ... Complex Function in the Wnt Signaling Pathway of Drosophila Requires Multiple Interactions Between Adenomatous Polyposis Coli 2 ... Complex Function in the Wnt Signaling Pathway of Drosophila Requires Multiple Interactions Between Adenomatous Polyposis Coli 2 ... Complex Function in the Wnt Signaling Pathway of Drosophila Requires Multiple Interactions Between Adenomatous Polyposis Coli 2 ...
2010 Adenomatous polyposis coli protein nucleates actin assembly and synergizes with the formin mDia1. J. Cell Biol. 189: 1087- ... 1997 The adenomatous polyposis coli (APC) tumor suppressor. Biochim. Biophys. Acta 1332: F127-F147. ... The tumor suppressor Adenomatous polyposis coli (APC) negatively regulates Wnt signaling through its activity in the ... 2008 Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours. Hum. Mol. Genet. ...
Methylation analysis of the adenomatous polyposis coli (APC) gene in cdult T-cell leukemia/lymphoma. Masahide Matsushita, Yang ... The Adenomatous Polyposis Coli (APC) gene is a tumor suppressor gene which is associated with both familial and sporadic cancer ... Methylation analysis of the adenomatous polyposis coli (APC) gene in cdult T-cell leukemia/lymphoma ... Methylation analysis of the adenomatous polyposis coli (APC) gene in cdult T-cell leukemia/lymphoma ...
Adenomatous polyposis coli (Apc) is a key controller of beta-catenin turnover by down-regulating intracellular levels of beta- ... Adenomatous polyposis coli-mediated control of beta-catenin is essential for both chondrogenic and osteogenic differentiation ...
However, its association with adenomatous polyposis coli is extremely rare. Here we present an interesting case of deep vein ... Colonoscopy and biopsy were suggestive of adenomatous polyposis coli. However, she could not tolerate anticoagulant therapy and ... thrombosis associated with adenomatous polyposis coli.Case Presentation A 15 year old female who was having fever and diarrhea ... However, its association with adenomatous polyposis coli is extremely rare. Here we present an interesting case of deep vein ...
Adenomatous Polyposis Coli - diagnosis - epidemiology - genetics - surgery Adenomatous Polyposis Coli Protein - genetics Adult ... Adenomatous Polyposis Coli - diagnosis - epidemiology - genetics Adolescent Adult Age Distribution Age of Onset Aged Aged, 80 ... Adenomatous Polyposis Coli - diagnosis - epidemiology - genetics Adolescent Adult Aged Aged, 80 and over Databases, Factual ... Adenomatous Polyposis Coli - diagnosis - epidemiology - genetics Adolescent Adult Age Distribution Aged Analysis of Variance ...
Adenomatous Polyposis Coli antibody for Immunohistochemistry (Frozen Sections) (IHC (fro)). ... Recommended Adenomatous Polyposis Coli Antibody (supplied by: Log in to see ) Antigen Adenomatous Polyposis Coli (APC) ... anti-Adenomatous Polyposis Coli Antibodies * anti-Mouse (Murine) Adenomatous Polyposis Coli antibody for Immunohistochemistry ( ... Top referenced anti-Adenomatous Polyposis Coli antibody for Immunohistochemistry (Frozen Sections). * Human Monoclonal APC ...
Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin. Violet Votin, W. James Nelson, Angela I. M. Barth ... Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin. Violet Votin, W. James Nelson, Angela I. M. Barth ... Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin. Violet Votin, W. James Nelson, Angela I. M. Barth ... Neurite outgrowth involves adenomatous polyposis coli protein and β-catenin Message Subject (Your Name) has sent you a message ...
1997) The adenomatous polyposis coli (APC) tumor suppressor. Biochim. Biophys. Acta 1332:F127-F147, pmid:9196022.. ... 1993) The role of the adenomatous polyposis coli (APC) gene in human cancers. Adv. Cancer Res. 62:65-87, pmid:8109321.. ... Adenomatous Polyposis Coli (APC) Protein Moves along Microtubules and Concentrates at Their Growing Ends in Epithelial Cells. ... Adenomatous polyposis coli (APC) tumor suppressor protein has been shown to be localized near the distal ends of microtubules ( ...
  • β-catenin-mediated signaling also can be affected by the association of β-catenin with the tumor suppressor molecule adenomatous polyposis coli (APC) ( 17 , 18 ) and their further interaction with axin ( 19 , 20 ) and glycogen synthase kinase 3β ( 21 ). (pnas.org)
  • Inhibition of GSK3-β activity is mediated by dishevelled and involves the disruption of a catalytic complex (also known as the destruction complex) formed by Axin, adenomatous polyposis coli (APC), casein kinase I, and GSK3-β. (rupress.org)
  • PrxII deletion in mice with inactivating mutation of adenomatous polyposis coli (APC) gene reduces intestinal adenomatous polyposis via Axin/ -catenin axis and thereby promotes survival. (bireme.br)
  • Reports of CN findings in colorectal cancer have evaluated multiple genes, and they do not specifically focus on the Adenomatous Polyposis Coli gene, which is a critically important gene in colorectal carcinogenesis. (biomedcentral.com)
  • Esto produce una acumulación de esta proteína en el citoplasma celular y permite su entrada al núcleo, donde ejerce su acción al unirse a una serie de moléculas y factores de transcripción, permitiendo de este modo que se expresen los genes diana, entre los que se encuentran los de las hormonas incretinas. (isciii.es)
  • It also confirms that genotype-phenotype correlations in MUTYH-associated polyposis are very complex. (cdc.gov)