Adenomatous Polyposis Coli
Adenomatous Polyposis Coli Protein
Genes, APC
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.
Intestinal Polyps
Cytoskeletal Proteins
Axin Protein
Intestinal Polyposis
Fibromatosis, Aggressive
Colorectal Neoplasms
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.
Polyps
Trans-Activators
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.
Mutation
Fibromatosis, Abdominal
Chromosomes, Human, Pair 5
Germ-Line Mutation
Colonic Polyps
TCF Transcription Factors
Sulindac
A sulfinylindene derivative prodrug whose sulfinyl moiety is converted in vivo to an active NSAID analgesic. Specifically, the prodrug is converted by liver enzymes to a sulfide which is excreted in the bile and then reabsorbed from the intestine. This helps to maintain constant blood levels with reduced gastrointestinal side effects.
Proctocolectomy, Restorative
Armadillo Domain Proteins
A family of proteins that contain several 42-amino acid repeat domains and are homologous to the Drosophila armadillo protein. They bind to other proteins through their armadillo domains and play a variety of roles in the CELL including SIGNAL TRANSDUCTION, regulation of DESMOSOME assembly, and CELL ADHESION.
Glycogen Synthase Kinase 3
Transcription Factor 7-Like 2 Protein
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.
Lymphoid Enhancer-Binding Factor 1
Colonic Pouches
Glycogen Synthase Kinases
A class of protein-serine-threonine kinases that was originally found as one of the three types of kinases that phosphorylate GLYCOGEN SYNTHASE. Glycogen synthase kinases along with CA(2+)-CALMODULIN DEPENDENT PROTEIN KINASES and CYCLIC AMP-DEPENDENT PROTEIN KINASES regulate glycogen synthase activity.
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.
Colon
Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome
The largest subunit of the anaphase-promoting complex. It acts primarily as a scaffold for the proper organization and arrangement of subunits. The C-terminal region of Apc1 contains a series of tandem amino acid repeats that are also seen in the 26S proteasome regulatory particle, and may assist with forming and stabilizing protein-protein interactions.
Intestinal Mucosa
Loss of Heterozygosity
Microtubules
Cadherins
Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.
Signal Transduction
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Frameshift Mutation
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Osteoma
Escherichia coli
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Base Sequence
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Phenotype
Zebrafish Proteins
Protein Binding
Genes, MCC
Polymorphism, Single-Stranded Conformational
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Microtubule-Associated Proteins
Wnt1 Protein
Cell Transformation, Neoplastic
Pedigree
Cell Nucleus
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Tumor Cells, Cultured
Gene Expression Regulation, Neoplastic
Amino Acid Sequence
Intestines
Adaptor Proteins, Signal Transducing
A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes
Transcription Factors
Precancerous Conditions
Cell Surface Extensions
Anti-Inflammatory Agents, Non-Steroidal
Anti-inflammatory agents that are non-steroidal in nature. In addition to anti-inflammatory actions, they have analgesic, antipyretic, and platelet-inhibitory actions.They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. Inhibition of prostaglandin synthesis accounts for their analgesic, antipyretic, and platelet-inhibitory actions; other mechanisms may contribute to their anti-inflammatory effects.
Alleles
alpha Catenin
Protein Structure, Tertiary
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Repressor Proteins
Codon
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
Immunohistochemistry
Genotype
DNA Methylation
Pouchitis
Proto-Oncogene Proteins
DNA Primers
Carcinoma
Promoter Regions, Genetic
Neoplasm Proteins
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Xenopus Proteins
Cyclooxygenase 2
Gene Deletion
Neoplasms, Multiple Primary
Exons
Genes, Tumor Suppressor
HT29 Cells
Anticarcinogenic Agents
DNA-Binding Proteins
Heterozygote
Cytoplasm
Anastomosis, Surgical
Neoplastic Syndromes, Hereditary
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Down-Regulation
Point Mutation
Genes, ras
Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.
Wnt3A Protein
Tumor Suppressor Proteins
Gastrointestinal Neoplasms
Epithelial Cells
Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.
Epidermal Cyst
Hyperplasia
Binding Sites
Desmoplakins
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Transcription, Genetic
Recombinant Fusion Proteins
Drosophila Proteins
Microsatellite Repeats
Escherichia coli O157
A verocytotoxin-producing serogroup belonging to the O subfamily of Escherichia coli which has been shown to cause severe food-borne disease. A strain from this serogroup, serotype H7, which produces SHIGA TOXINS, has been linked to human disease outbreaks resulting from contamination of foods by E. coli O157 from bovine origin.
Peutz-Jeghers Syndrome
Cell Division
gamma Catenin
Microscopy, Fluorescence
Intestine, Small
Chromosomal Instability
Gene Silencing
Genetic Predisposition to Disease
Transfection
Phosphorylation
Apoptosis
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
Models, Biological
Calcium-Calmodulin-Dependent Protein Kinases
A CALMODULIN-dependent enzyme that catalyzes the phosphorylation of proteins. This enzyme is also sometimes dependent on CALCIUM. A wide range of proteins can act as acceptor, including VIMENTIN; SYNAPSINS; GLYCOGEN SYNTHASE; MYOSIN LIGHT CHAINS; and the MICROTUBULE-ASSOCIATED PROTEINS. (From Enzyme Nomenclature, 1992, p277)
Reverse Transcriptase Polymerase Chain Reaction
DNA Glycosylases
A family of DNA repair enzymes that recognize damaged nucleotide bases and remove them by hydrolyzing the N-glycosidic bond that attaches them to the sugar backbone of the DNA molecule. The process called BASE EXCISION REPAIR can be completed by a DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE which excises the remaining RIBOSE sugar from the DNA.
Colitis, Ulcerative
Genetic Testing
Ileum
Blotting, Western
Proteins
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Disease Models, Animal
Cell Movement
Mice, Knockout
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Membrane Proteins
Adenomatosis, Pulmonary
COS Cells
CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)
Stem Cells
Protein Transport
Cell Polarity
Sequence Homology, Amino Acid
Drosophila
Multiprotein Complexes
Mice, Transgenic
Xenopus
Ampulla of Vater
Gene Expression Regulation
Carrier Proteins
Colorectal Neoplasms, Hereditary Nonpolyposis
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
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)
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Background Adenomatous polyposis coli (Apc) is a tumor suppressor that inhibits
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Mismatch repair cancer syndrome - Wikipedia
Adenocarcinoma at the Ileostomy Site After a Proctocolectomy for Ulcerative Colitis and/or Familial Adenomatous Polyposis: An...
Clinical Trial: Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer or Polyposis Syndrome...
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2011 Group 5 Project - CellBiology
Juvenile Polyposis Syndrome | Childrens Hospital of Philadelphia
Familial Juvenile Polyposis Syndrome
Adenomatous Polyposis, Familial - Medical Dictionary online-medical-dictionary.org
Repositorio da Producao Cientifica e Intelectual da Unicamp: Differential Expression Of Pro-inflammatory Cytokines And A Pro...
Molecular mechanisms of β‐catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-β‐catenin...
APC2 - Adenomatous polyposis coli protein 2 - Homo sapiens (Human) - APC2 gene & protein
Rabbit Polyclonal to PEX14. | Small molecule inhibitors of HCV replication
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Polyclonal origin of colonic adenomas in an XO/XY patient with FAP. - Nuffield Department of Medicine
Alpha | Upstate Patient Care |SUNY Upstate Medical University
Harlingen Medical Center to observe colon cancer awareness
FAP Gene Curcumin A Personal Trial
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GastroHep News Story
PRIME PubMed | First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations
Rockville-based Sucampo Pharmaceuticals Inc. acquires exclusive option for colon cancer prevention drug in deal worth up to ...
Cancer Prevention Pharmaceuticals Receives $9.5 Million in Additional Funding from Sucampo Following Phase 3 Trial Progress |...
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Risk factors for small intestine cancer - Canadian Cancer Society
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POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 | MENDELIAN.CO
1616113-45-1 supplier - casein kinases mediate the phosphorylatable protein pp49
1. Evolution or Design? Duons | The Skeptical Zone
PROGRESSION OF FAMILY MEMBERS GENETIC NEURAL TUBE DEFECTS « FAROUCHE OMBRÉ
Background Colorectal carcinoma is a common cause of cancer. a new - The DNA-dependent protein kinase � Genes & Development
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Wnt inhibition | 2018 NCRI Cancer Conference
ATCC Cell Lines by APC Gene Mutation Page 1
List of OMIM disorder codes
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 ...
AXIN1
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 ... Adenomatous polyposis coli, CREB-binding protein/(CBP) and might be affected in similar ways by missense mutations of their ...
Timothy J. Yeatman
Regulation of caspase expression and apoptosis by adenomatous polyposis coli. Cancer Research. 2003 Aug 1;63(15):4368-74. PMID ...
Point mutation
For instance, point mutations in Adenomatous Polyposis Coli promote tumorigenesis. A novel assay, Fast parallel proteolysis ( ...
Benign tumor
Aoki K, Taketo MM (October 2007). "Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene". Journal of Cell ... Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene. In FAP, adenomatous ... Galiatsatos P, Foulkes WD (February 2006). "Familial adenomatous polyposis". The American Journal of Gastroenterology. 101 (2 ... Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by hamartomatous intestinal polyposis, macrocephaly, ...
BUB1B
Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (April 2001). "A role for the Adenomatous Polyposis Coli ...
BUB3
Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (April 2001). "A role for the Adenomatous Polyposis Coli ... cancer adenomatous polyposis osteosarcoma familial breast cancer glioblastoma cervicitis lung cancer carcinoma Coli polyposis ...
Mouse model of colorectal and intestinal cancer
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 ...
Catenin beta-1
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, ...
CSNK2B
"Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein". Proc. Natl. Acad. Sci. U.S.A. ...
Casein kinase 2, alpha 1
"Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein". Proc. Natl. Acad. Sci. U.S.A. 99 ...
KLF4
"Haploinsufficiency of Krüppel-like factor 4 promotes adenomatous polyposis coli dependent intestinal tumorigenesis". Cancer ...
DVL1
Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ...
MAPRE2
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 ...
ARHGEF4
2006). "Adenomatous polyposis coli (APC) is required for normal development of skin and thymus". PLOS Genet. 2 (9): e146. doi: ...
REEP5
"A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene". Nucleic Acids Research. 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 ... August 1991). "Identification of deletion mutations and three new genes at the familial polyposis locus". Cell. 66 (3): 601-13 ... June 2006). "HCCR-1-interacting molecule "deleted in polyposis 1" plays a tumor-suppressor role in colon carcinogenesis". ...
Kinesin-associated protein 3
2006). "Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus". PLOS Genet. 2 (9): e146. doi: ...
MAPRE1
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. ...
Mir-135 microRNA precursor family
July 2008). "Regulation of the adenomatous polyposis coli gene by the miR-135 family in colorectal cancer". Cancer Research. 68 ...
Inke Nathke
She is known for her work on the role of the adenomatous polyposis coli (APC) protein in colorectal cancer. Näthke grew up in ... Näthke, I. S.; Adams, C. L.; Polakis, P.; Sellin, J. H.; Nelson, W. J. (1996). "The adenomatous polyposis coli tumor suppressor ... In her postdoctoral work she established a link between the adenomatous polyposis coli (APC) tumor suppressor and cell movement ... Penman, George A.; Leung, Louie; Näthke, Inke S. (2005-10-15). "The adenomatous polyposis coli protein (APC) exists in two ...
APC internal ribosome entry site (IRES)
APC is a tumour suppressor gene which is associated with the inherited disease adenomatous polyposis coli (APC). It is thought ...
Ran (protein)
... of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance ...
SIAH1
"Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein". Molecular Cell ...
Aster (cell biology)
It is also dependent on several microtubule-associated proteins such as EB1 and adenomatous polyposis coli (APC). Growth of ...
Cell extrusion
... p115 RhoGEF and the plus-ended microtubule binding tumor suppressor Adenomatous Polyposis Coli (APC). While the S1P-S1P2-Rho- ... "The tumor suppressor adenomatous polyposis coli controls the direction in which a cell extrudes from an epithelium". Molecular ...
XPO1
... of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance ...
Wnt signaling pathway
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 ... This destruction complex includes the following proteins: Axin, adenomatosis polyposis coli (APC), protein phosphatase 2A (PP2A ...
Prostaglandin EP2 receptor
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; ...
Ubiquitin
The gene associated with colorectal cancer is the adenomatous polyposis coli (APC), which is a classic tumor suppressor gene. ...
Missense mRNA
Muniappan BP, Thilly WG (June 2002). "The DNA polymerase beta replication error spectrum in the adenomatous polyposis coli gene ...
PSMD7
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
PSMB3
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
Microtubule
This later activity is mediated by formins, the adenomatous polyposis coli protein, and EB1, a protein that tracks along the ...
Monica Bertagnolli
Bertagnolli's laboratory at the Dana-Farber / Harvard Cancer Center studies the role of Adenomatous polyposis coli (APC) ...
P120 (protein)
"The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ... "The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ...
PSMD5
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
LGR5
... such as formation of adenoma via Adenomatous polyposis coli (APC) mutation. Studies on LGR5 in colorectal cancer revealed a ...
PSMD14
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
PSMA3
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
Mir-129 microRNA precursor family
Adenomatous polyposis coli (APC), a tumour suppressor gene controlled by Wnt signalling and involved in proliferation, and ...
PSMB10
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
PSMD1
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
L. S. Shashidhara
... and EGFR/Ras that impact the growth control and developed a fly model for studying Adenomatous polyposis coli, the colon cancer ... Drosophila melanogaster Homeotic selector gene Adenomatous polyposis coli Ultrabithorax India portal Biology portal 25 of his ...
List of MeSH codes (C04)
... adenomatous polyps MeSH C04.557.470.035.215.100 - adenomatous polyposis coli MeSH C04.557.470.035.215.100.500 - gardner ... adenomatous polyposis coli MeSH C04.588.274.476.411.307.089.393 - gardner syndrome MeSH C04.588.274.476.411.307.180 - colonic ... adenomatous polyposis coli MeSH C04.588.274.476.411.307.180.089.500 - gardner syndrome MeSH C04.588.274.476.411.307.180.800 - ...
Plakoglobin
... and scaffold proteins adenomatous polyposis coli (APC) and axin targets plakoglobin for degradation.[31-33]. The phosphorylated ... "The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ... "The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ...
PSMD8
Moreover, the UPS regulates the degradation of tumor suppressor gene products such as adenomatous polyposis coli (APC) in ...
PPP2R5A
Galea MA, Eleftheriou A, Henderson BR (Dec 2001). "ARM domain-dependent nuclear import of adenomatous polyposis coli protein is ...
Naked cuticle 1
... the majority of which have increased Wnt signaling due to mutations the adenomatous polyposis coli (APC), AXIN2, or rarely the ...
Cadherin-1
"The tyrosine kinase substrate p120cas binds directly to E-cadherin but not to the adenomatous polyposis coli protein or alpha- ...
CTNNBIP1
2009). "Somatic mutations of adenomatous polyposis coli gene and nuclear b-catenin accumulation have prognostic significance in ... 1 regulates beta-catenin at membrane ruffles and its role in macropinocytosis of N-cadherin and adenomatous polyposis coli". J ...
FAM203B
... and adenomatous polyposis coli in mammals. DUF383: Domain of unknown function 383 DUF384: Domain of unknown function 383 Every ...
PPP2R5B
"GSK-3beta-dependent phosphorylation of adenomatous polyposis coli gene product can be modulated by beta-catenin and protein ...
Adenomatous polyposis coli - Wikipedia
Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ... 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 ... NIH/UW entry on APC-Associated Polyposis Conditions OMIM entries on APC-Associated Polyposis Conditions Adenomatous+Polyposis+ ...
Topoisomerase IIα Binding Domains of Adenomatous Polyposis Coli Influence Cell Cycle Progression and Aneuploidy
Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus<...
Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. American ... Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. In: ... Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. / Spirio, ... title = "Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus", ...
Familial adenomatous polyposis: MedlinePlus Genetics
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine ( colon ) and ... Adenomatous familial polyposis. *Adenomatous familial polyposis syndrome. *Adenomatous polyposis coli. *Familial multiple ... Familial adenomatous polyposis can have different inheritance patterns.. When familial adenomatous polyposis results from ... A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been ...
Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23...
Adenomatous Polyposis Coli, Adolescent, Adult, Child, Chromosome Aberrations, Chromosomes, Artificial, Yeast, Chromosomes, ... Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5( ... Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5( ...
Rectal Cancer: Practice Essentials, Background, Anatomy
Adenomatous polyposis coli ( APC) gene adenoma-carcinoma pathway * Hereditary nonpolyposis colorectal cancer (HNPCC) pathway ... If the APC mutation is inherited, it will result in familial adenomatous polyposis syndrome. ... Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis ... Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. Am J ...
Rectal Cancer: Practice Essentials, Background, Anatomy
Adenomatous polyposis coli ( APC) gene adenoma-carcinoma pathway * Hereditary nonpolyposis colorectal cancer (HNPCC) pathway ... If the APC mutation is inherited, it will result in familial adenomatous polyposis syndrome. ... Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis ... Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. Am J ...
Chapter 13 | HuGE 2010 | CDC
The adenomatous polyposis coli (APC) gene is a tumor suppressor gene, and mutations resulting in loss of APC protein function ... Adenomatous polyposis coli (APC) plays multiple roles in the intestinal and colorectal epithelia. Med Mol Morphol. 2007;40:68- ... autosomal dominant neoplastic syndrome of Familial Adenomatous Polyposis Coli (FAP). This condition has an annual incidence of ... Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791-799. ...
CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. - Oxford Stem Cell Institute
Cells from patients with deletions in this region, in one case associated with polyposis in a family, have been used to ... 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- ... Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage ... Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage ...
SAPCD2 suppressor APC domain containing 2 [Homo sapiens (human)] - Gene - NCBI
The I1307K Adenomatous Polyposis Coli Gene Variant Does Not Contribute in the Assessment of the Risk for Colorectal Cancer in...
The I1307K Adenomatous Polyposis Coli Gene Variant Does Not Contribute in the Assessment of the Risk for Colorectal Cancer in ... The I1307K Adenomatous Polyposis Coli Gene Variant Does Not Contribute in the Assessment of the Risk for Colorectal Cancer in ... The I1307K Adenomatous Polyposis Coli Gene Variant Does Not Contribute in the Assessment of the Risk for Colorectal Cancer in ... The I1307K Adenomatous Polyposis Coli Gene Variant Does Not Contribute in the Assessment of the Risk for Colorectal Cancer in ...
Cell Journal
The Adenomatous Polyposis Coli (APC; OMIM 611731) is a tumor suppressor gene of Wnt pathway and is frequently mutated in CRC ... A Unique Profile of Adenomatous Polyposis Coli Gene Mutations in Iranian Patients Suffering Sporadic Colorectal Cancer ... This study described an E. coli cloning and expression system (E. coli BL21- pET-28a-ace) for the Ace protein of V. cholerae. ... The aim of this study is the cloning and overexpression of the ace gene into Escherichia coli (E. coli) and determination of ...
A pipeline for the generation of shRNA transgenic mice | Nature Protocols
Adenomatous polyposis coli (APC) is required for normal development of skin and thymus. PLoS Genet. 2, e146 (2006). ... Loss of adenomatous polyposis coli gene function disrupts thymic development. Nat. Immunol. 6, 800-809 (2005). ... Methylation analysis of the adenomatous polyposis coli (APC) gene in adult T-cell leukemia/lymphoma. Leukemia Res. 29, 47-51 ( ...
Plus it
Rectal Cancer: Practice Essentials, Background, Anatomy
Adenomatous polyposis coli ( APC) gene adenoma-carcinoma pathway * Hereditary nonpolyposis colorectal cancer (HNPCC) pathway ... If the APC mutation is inherited, it will result in familial adenomatous polyposis syndrome. ... Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis ... Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. Am J ...
Biblio | Linus Pauling Institute | Oregon State University
SCOPe 2.08: Structural Classification of Proteins - extended
DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95
Woo-Yang Kim | Semantic Scholar
Molecular basis for risk factors | The BMJ
Adenomatous polyposis coli (APC) gene mutations and hypermethylation occur early, followed by k ras mutations. Deleted in colon ... Attenuated familial adenomatous polyposis, juvenile polyposis syndrome, and Peutz-Jeghers syndrome are rarer, mendelian causes ... The commonest hereditary syndromes are familial adenomatous polyposis and heredity non-polyposis colon cancer. Patients with ... there is a germline mutation in the tumour suppressor gene for adenomatous polyposis coli (APC) on chromosome … ...
Adenomatous Polyposis Syndrome
Familial Adenomatous Polyposis, Adenomatous Polyposis Coli, MYH-Associated polyposis, Attenuated Familial Adenomatous Polyposis ... Adenomatous Polyposis Syndrome, Familial Adenomatous Polyposis, Adenomatous Polyposis Coli, MYH-Associated polyposis, ... Familial Adenomatous Polyposis (Adenomatous Polyposis Coli, MYH-Associated polyposis). *Synchronous advanced adenomas numbering ... Attenuated Familial Adenomatous Polyposis (10-99 synchronous advanced adenomas). *Colonoscopy every 1-2 years starting by late ...
NIOSHTIC-2 Search Results - Full View
APC purified MaxPab rabbit polyclonal antibody (D01P) - (H00000324-D01P) - Products - Abnova
A novel Anoikis and immune-related genes marked prognostic s... : Medicine
Peter Baker Kelsey, M.D. | Harvard Catalyst Profiles | Harvard Catalyst
Mutant APC promotes tumor immune evasion via PD-L1 in colorectal cancer | Oncogene
Here we demonstrate that mutations in the adenomatous polyposis coli (APC) gene lead to colonic epithelial cell resistance to ... Here we demonstrate that mutations in the adenomatous polyposis coli (APC) gene lead to colonic epithelial cell resistance to ... Adenomatous polyposis coli gene mutations in ulcerative colitis-associated dysplasias and cancers versus sporadic colon ...
Nicolle Class (2017-2020) | Institut Pasteur
The tumor suppressor Adenomatous polyposis coli as a regulator of anti-tumor immunity. ... The structure and assembly of the Enterohemorrhagic Escherichia coli type 4 pilus deciphered ... The structure and assembly of the Enterohemorrhagic Escherichia coli type 4 pilus deciphered ... New light shed on spread of resistance to carbapenems in Escherichia coli ...
Karin H Franzén - Institutionen för medicinska vetenskaper - Örebro universitet
Chemopreventive properties of curcumin analogues, hexagamavunone-0 and gamavutone-0, in rat colorectal cancer model
|...
Keywords: Curcumin, Gamavutone-0, Hexagamavunone-0, Colorectal cancer, Adenomatous polyposis coli, Cyclooxygenase-2 ... Keywords: Curcumin, Gamavutone-0, Hexagamavunone-0, Colorectal cancer, Adenomatous polyposis coli, Cyclooxygenase-2 ... E staining and immunohistochemistry with antibodies against adenomatous polyposis coli (APC) and cyclooxygenase 2 (COX-2). ...
ProteinPolypsFamilial adenomatous poSyndromesTumor suppMutations in adenomatous polyGene mutationsPatientsGenesCalled MUTYH-associated polyposisTumourProteinsUlcerativeClassic and attenuatedBeta-cateninSyndromeDegradationAutosomal dominantGenotype-phenotype correlationsAdenomatosisHNPCCEscherichiaCancersAxinMutationAPC2PMIDChromosomeProgressionDeletionDifferentiationColectomyOnsetActinRegulatorDominantly inheritedCateninSuppressorAbstract
Protein13
- Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the APC gene. (wikipedia.org)
- The (Adenomatous Polyposis Coli) APC protein normally builds a "destruction complex" with glycogen synthase kinase 3-alpha and or beta (GSK-3α/β) and axin via interactions with the 20 AA and SAMP repeats. (wikipedia.org)
- The adenomatous polyposis coli ( APC ) gene is a tumor suppressor gene, and mutations resulting in loss of APC protein function are associated with carcinogenesis. (cdc.gov)
- DAP-1 was found to associate with hDLG, PSD-95, NMDA-R and adenomatous polyposis coli protein (APC). (nih.gov)
- The cadherin-catenin complex is expressed alternately with the adenomatous polyposis coli protein during rat incisor amelogenesis. (wikigenes.org)
- Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. (uniklinikum-dresden.de)
- 2004. Activator protein 2alpha associates with adenomatous polyposis coli/beta-catenin and Inhibits beta-catenin/T-cell factor transcriptional activity in colorectal cancer cells. . (oregonstate.edu)
- In the absence of Wnt binding to the co-receptor complex of Frizzled (Fz) and low-density lipoprotein receptor-related proteins (LRP) 5 and 6, a multi-protein destruction complex consisting of the scaffolding/tumor suppressor proteins Axin and adenomatous polyposis coli (APC), and the serine/threonine kinases casein kinase 1α (CK-1α) and glycogen synthase kinase 3 (GSK3) mediates phosphorylation of β-catenin 2,3,9 . (cytoskeleton.com)
- Other laboratories have recently reported that N-cadherin dependent cell adhesion requires intracellular associations with $\alpha $-, $\beta$-, and $\gamma$-catenin, and that the protein adenomatous polyposis coli (APC) may play a role in regulating these interactions. (jefferson.edu)
- Results: Gene promoters of SHH (P = 0.016), adenomatous polyposis coli (APC) (P = 0.003), secreted frizzled-related protein 5 (SFRP5) (P = 0.004) and Ras association domain family 1A (RASSF1A) (P = 0.023) showed significantly more methylation in BCC versus normal skin. (maastrichtuniversity.nl)
- PTHR12607 ADENOMATOUS POLYPOSIS COLI PROTEIN #* Intracellular cytoskeleton, role in structure of adherens junction. (geneontology.org)
- The protein encoded by APC (Adenomatous polyposis coli), a tumour suppressor gene, plays a key role in the degradation of beta catenin. (gesundheitsindustrie-bw.de)
- GSK-3beta-dependent phosphorylation of adenomatous polyposis coli gene product can be modulated by beta-catenin and protein phosphatase 2A complexed with Axin. (modencode.org)
Polyps15
- Adenomatous polyps are an intermediate in the pathway to colon carcinoma. (elsevier.com)
- An inherited disorder, familial adenomatous polyposis coli (APC), is characterized by hundreds to thousands of adenomatous polyps. (elsevier.com)
- In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. (medlineplus.gov)
- Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. (medlineplus.gov)
- Evidence for the molecular basis of colorectal cancer comes from genetic analysis of tissues either from patients with a family history of the disease or from patients with sporadic adenomatous colorectal polyps or extensive ulcerative colitis. (bmj.com)
- More than 70% of colorectal cancers develop from sporadic adenomatous polyps, and postmortem studies have shown the incidence of adenomas to be 30-40% in Western populations. (bmj.com)
- and/or (3) any number of juvenile polyps with a family history of juvenile polyposis. (nih.gov)
- 11 Naveau et al found that alcoholism and cirrhosis were two independent risk factors for colorectal adenomatous polyps after successive adjustments for sex, age, smoking, and serum cholesterol levels. (bmj.com)
- Numerous polyposis syndromes may present with gastrointestinal (GI) polyps. (asperbio.com)
- Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. (asperbio.com)
- In sufferers with familial adenomatous polyposis, a genetic illness predisposing to colon most cancers, mutations of the APC gene induce the formation of intestinal polyps, but additionally scale back immune system exercise. (hub-ct.com)
- The Committee for Medicinal Products for Human Use CHMP decided that Familial cancer heritability benefits are greater than its risks for the reduction of the number of adenomatous intestinal polyps in FAP as an adjunct to surgery and further endoscopic surveillance. (sprdiamantul.ro)
- FAP is characterized by the presence of hundreds to thousands of adenomatous polyps in the colon and rectum of affected individuals and would lead to colorectal cancer in virtually all the patients if left untreated. (vallhebron.com)
- Germ-line mutations in the human adenomatous polyposis coli (APC) gene result in familial adenomatous polyposis, an autosomal dominant disorder characterized by the early onset of multiple adenomatous polyps in the large bowel with a high likelihood of developing colorectal carcinomas. (elsevier.com)
- Effects of oral calcium supplementation on intestinal bile acids and cytolytic activity of fecal water in patients with adenomatous polyps of the colon. (jamanetwork.com)
Familial adenomatous po1
- Best Practice Guidelines for Molecular Analysis of Colorectal Polyposis: Familial Adenomatous Polyposis Coli (FAP) a. (fapvoice.com)
Syndromes9
- The commonest hereditary syndromes are familial adenomatous polyposis and heredity non-polyposis colon cancer. (bmj.com)
- ESGE recommends that individuals with hereditary gastrointestinal polyposis syndromes should be surveilled in dedicated units that provide monitoring of compliance and endoscopic performance measures. (esge.com)
- Currently, there is uncertainty about the surveillance intervals and optimal endoscopic management, and guidelines regarding polyposis syndromes are limited. (esge.com)
- A second guideline will focus on the endoscopic management of familial and hereditary non-polyposis syndromes. (esge.com)
- Hereditary types include familial adenomatous polyposis and hamartomatous polyposis, and other rare polyposis syndromes. (asperbio.com)
- Molecular genetic testing enables differential diagnosis of GI polyposis syndromes often defined with overlapping and indistinguishable phenotypes. (asperbio.com)
- Gastrointestinal Inherited Polyposis Syndromes. (asperbio.com)
- Precise identification of the genetic cause of this condition has a profound impact on the management of FAP/AFAP family members, and there is therefore an acute need to identify new genetic abnormalities that could be responsible for a significant number of these adenomatous polyposis syndromes in APC/MUTYH mutation negative families. (vallhebron.com)
- The analysis from the molecular bases of two main syndromes familial adenomatous polyposis (FAP) and hereditary nonpolypsis CRC (HNPCC) provides resulted in the id of two primary pathways where these molecular occasions can result in CRC [5]. (flora2world.com)
Tumor supp5
- Background Truncating mutations in the tumor suppressor gene APC (Adenomatous Polyposis Coli) are thought to initiate the majority of colorectal cancers. (ku.edu)
- APC, (adenomatous polyposis coli), is a tumor suppressor gene whose main function is to down-regulate growth promoting signals, such as beta catenin. (flashcardmachine.com)
- Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene. (jax.org)
- The trigger: mutations of the tumor suppressor gene APC (adenomatous polyposis coli). (hub-ct.com)
- Familial Adenomatous Polyposis FAP is a genetic disease resulting from an autosomal dominant genetic familial cancer is caused by of a tumor suppressor gene, the adenomatous polyposis coli APC gene. (sprdiamantul.ro)
Mutations in adenomatous poly2
- This syndrome is caused by germline mutations in adenomatous polyposis coli (APC) gene, on chromosome 5q21-q22. (endocrine-abstracts.org)
- The majority of CRC is induced by mutations in adenomatous polyposis coli (transcription followed by metal-induced hydrolysis at 94C. (scienceonstageturkey.com)
Gene mutations3
- Adenomatous polyposis coli (APC) gene mutations and hypermethylation occur early, followed by k ras mutations. (bmj.com)
- Adenomatous polyposis coli gene mutations in ulcerative colitis-associated dysplasias and cancers versus sporadic colon neoplasms. (nature.com)
- APC gene mutations in Chinese familial adenomatous polyposis patients. (snpedia.com)
Patients10
- 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. (ox.ac.uk)
- 18 juvenile polyposis patients have developed colorectal cancer at a mean age of 34 years (range 15-59). (nih.gov)
- No clinical or pathological distinction could be made between polyposis patients with and without colorectal cancer. (nih.gov)
- Analysis of genotype-phenotype correlations in familial adenomatous polyposis (FAP) patients demonstrated that the phenotypic heterogeneity of FAP is partly related to the mutation site. (elsevier.com)
- Because all patients with polyposis syndrome are at high risk of developing gastrointestinal (GI) malignancies, endoscopic surveillance and interventions are required to prevent the development of cancer or to detect cancer at an early stage. (esge.com)
- Purpose: Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the preferred surgical treatment for patients with ulcerative colitis and familial adenomatous polyposis. (wustl.edu)
- A long-running study of familial colon cancer has led to new approaches for treating small bowel cancer, the leading cause of death in patients with familial adenomatous polyposis (FAP). (utah.edu)
- Mice which are heterozygous for the Apc gene modification progressively develop intestinal tumors in a manner that is similar to that observed in patients with familial adenomatous polyposis and in mice which carry a mutation called multiple intestinal neoplasia (Min). (elsevier.com)
- Patients with familial adenomatous polyposis harbor colonic biofilms containing tumorigenic bacteria. (vanderbilt.edu)
- Patients with familial adenomatous polyposis. (smartfin.org)
Genes5
- The FAP and HNPCC are caused due to mutations in the adenomatous polyposis coli (APC) and DNA mismatch repair (MMR) genes. (cdc.gov)
- Approximately 2%- 5% of CRC cases are genetically determined by mutations in the adenomatous polyposis coli (APC), MUTYH, DNA mismatch repair, or other predisposing genes [3]. (esge.com)
- There are several other polyposis-associated genes, including PTEN, GREM1, POLE/POLD1, and biallelic NTHL1, that will not be discussed in this guideline because of their low prevalence. (esge.com)
- The genetic mutations responsible for these two conditions lie in the adenomatous polyposis coli (APC) and mismatch repair genes. (ox.ac.uk)
- 2014). Such hereditary amendments often involve activation of cell development signaling through mutation of aswell as through mutation or epigenetic silencing of vital tumor suppressor genes (TSGs) such as for example p53 and adenomatous polyposis coli (reasonably as dependant on microarray analysis, IFNprotein creation had not been noticeable by ELISA easily, because of low level appearance probably, which was likewise observed also in the FHC handles (Amount 1B). (labrador-kennel.com)
Called MUTYH-associated polyposis1
- Mutations in the MUTYH gene cause autosomal recessive familial adenomatous polyposis (also called MUTYH-associated polyposis). (medlineplus.gov)
Tumour2
- Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. (sinica.edu.tw)
- Taken together with the essential function of motors in cell division and in transporting tumour suppressors such as Adenomatous Polyposis Coli, this raises the possibility that abnormal motor function could play a part in the development of cancer. (manchester.ac.uk)
Proteins4
- Wnt-activating mutations can be divided into: i) ligand-independent (LI) alterations in intracellular signal transduction proteins (Adenomatous polyposis coli, β-catenin), causing constitutive pathway activation and ii) ligand-dependent (LD) mutations affecting the synergistic R-Spondin axis (RNF43, RSPO-fusions) acting through amplification of endogenous Wnt signal transmembrane transduction. (elsevier.com)
- In the absence of Wnt signaling, free cytoplasmic β-catenin is rapidly targeted for degradation by a multiprotein complex containing (i) the scaffold proteins axin and adenomatous polyposis coli (APC), and (ii) the serine/threonine kinases casein kinase 1 α (CK1α) and glycogen synthase kinase 3β (GSK3β) [ 10 , 11 ]. (scitechnol.com)
- Activation of DsH inhibits another complicated of cytoplasmic proteins including axin, GSK-3 (glycogen synthase kinase-3), as well as the proteins APC (adenomatous polyposis coli). (sprentland.com)
- The data suggest in which interaction among resistance methyltransferases along with the cell's personal ancient methyltransferases can start to play a huge role inside determining weight levels.The adenomatous polyposis coli (APC) proteins are an adverse regulator of the mitogenic transcribing factor beta-catenin by revitalizing it's proteasomal wreckage. (bcl-2inhibitors.com)
Ulcerative1
- 1] Pricolo V.E., Ileal pouch-anal anastomosis: the ideal operation for ulcerative colitis and adenomatous polyposis coli? (edu.pl)
Classic and attenuated3
- More than 800 mutations[citation needed]in the APC gene have been identified in families with classic and attenuated types of familial adenomatous polyposis. (wikipedia.org)
- The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. (medlineplus.gov)
- Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. (medlineplus.gov)
Beta-catenin1
- Biallelic versions from the APC gene cause colon cancer inside genetic adenomatous polyposis coli (FAP) and also make functionality involving cut down goods inadequate internet domain names associated with beta-catenin wreckage but nevertheless having a minimum size. (bcl-2inhibitors.com)
Syndrome3
- The clinical syndrome due to mismatch repair gene deficiency is known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and accounts for 2-5% of all colorectal cancer cases. (cdc.gov)
- Attenuated familial adenomatous polyposis, juvenile polyposis syndrome, and Peutz-Jeghers syndrome are rarer, mendelian causes of colorectal cancer. (bmj.com)
- Familial adenomatous polyposis (FAP), MUTYH-associated polyposis , BMPR1A-related juvenile polyposis , SMAD4-related juvenile polyposis , PTEN hamartoma tumor syndrome , and Peutz-Jeghers syndrome are included in the testing. (asperbio.com)
Degradation1
- Canonical Wnt signaling regulates the stability of β-catenin, a transcriptional co-activator that, in absence of Wnt ligands, is targeted to proteasomal degradation by a multiproteic complex comprising the Adenomatous Polyposis Coli (APC) tumor suppressor. (sudoc.fr)
Autosomal dominant1
- APC-associated polyposis conditions are inherited in an autosomal dominant manner. (asperbio.com)
Genotype-phenotype correlations1
- Screening for mutations of the adenomatous polyposis coli (APC) gene in 67 Italian Familial Adenomatous Polyposis: Further evidence of complex genotype-phenotype correlations. (unipi.it)
Adenomatosis1
- About 85% of CRCs occur from occasions that bring about chromosomal instability (CIN) with aneuploidy and early inactivation of adenomatosis polyposis coli (APC). (flora2world.com)
HNPCC2
- The main inherited colorectal cancers are the familial adenomatous polyposis (FAP) and the hereditary nonpolyposis colorectal cancers (HNPCC). (cdc.gov)
- Hereditary Nonpolyposis Colorectal Cancer (HNPCC) and Familial Adenomatous Polyposis (FAP) are the two most common forms of hereditary predisposition to colorectal cancer. (vallhebron.com)
Escherichia3
- This region of AR-12 manufacturer Escherichia coli 16S rRNA by now consists of several methylated nucleotides such as mirielle(Four)Cm1402 as well as m(Your five)C1407. (bcl-2inhibitors.com)
- Connections to Escherichia coli are shown below. (vanderbilt.edu)
- Drug metabolism by Escherichia coli expressing human cytochromes P450. (vanderbilt.edu)
Cancers4
- We recently showed that mutations in the adenomatous polyposis coli ( APC ) gene confer resistance to HDAC inhibitor-induced apoptosis in colon cancers. (scialert.net)
- In most colorectal cancers, Wnt/b-catenin signaling is activated by loss-of-function mutations in the adenomatous polyposis coli (APC) gene and plays a critical role in tumorigenesis. (elsevier.com)
- Previous studies reported that mutation of the adenomatous polyposis coli (APC) gene was not observed in the majority of gastric cancers. (springernature.com)
- Loss of heterozygosity has been shown in the adenomatous polyposis coli and mutated colon cancer and retinoblastoma locus in Barrett's cancers [ 9 , 10 ]. (oeso.org)
Axin1
- Intracellular -catenin amounts are controlled with a complicated made up of axin, casein kinase 1 (CKI)a, and adenomatous polyposis coli (APC). (uitest.info)
Mutation4
- Familial adenomatous polyposis (FAP) is caused by an inherited, inactivating mutation in the APC gene. (wikipedia.org)
- The most common mutation in familial adenomatous polyposis is a deletion of five bases in the APC gene. (wikipedia.org)
- FAP is an inherited disorder that occurs in 1 out of 10,000 people that is caused by a mutation in the APC (adenomatous polyposis coli) gene. (utah.edu)
- Inherited mutation or deletion of one allele of the adenomatous polyposis coli (APC) gene is responsible for 80% of FAP or AFAP cases. (vallhebron.com)
APC22
- A second adenomatous polyposis coli (APC)-like gene, APC2/APCL, was recently described and localized to chromosome 19. (sinica.edu.tw)
- Assignment of the murine adenomatous polyposis coli 2 (Apc2) gene to mouse chromosome band 10B5-C2 by in situ hybridisation. (sinica.edu.tw)
PMID1
- PMID 17221838 ] Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). (snpedia.com)
Chromosome1
- Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage studies. (ox.ac.uk)
Progression2
- The purpose of this study was to determine the effect of quercetin supplementation on the progression of cachexia in the adenomatous polyposis coli (Apc)(Min/+) mouse model of colorectal cancer. (greenmedinfo.com)
- My laboratory focuses on a tumor suppressor called Adenomatous Polyposis Coli (APC) in the development and progression of cancer. (nd.edu)
Deletion2
Differentiation1
- Adenomatous Polyposis Coli Defines Treg Differentiation and Anti-inflammatory Function through Microtubule-Mediated NFAT Localization. (pasteur.fr)
Colectomy1
- It is suggested that the condition should be treated as seriously as familial adenomatous polyposis except that regular colonoscopic surveillance may obviate the need for prophylactic colectomy. (nih.gov)
Onset1
- The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. (medlineplus.gov)
Actin1
- Adenomatous Polyposis Coli Modulates Actin and Microtubule Cytoskeleton at the Immunological Synapse to Tune CTL Functions. (pasteur.fr)
Regulator1
- Fokus för forskningen är framför allt molekylen IL-1β, som produceras av den s k NLRP3 inflammasomen, men även CARD8, som visat sig vara en viktig regulator för inflammation i vaskulära celler. (oru.se)
Dominantly inherited1
- Familial adenomatous polyposis and hereditary non-polyposis colorectal cancer are dominantly inherited conditions with 100% and 80% life-time risk of developing colorectal cancer, respectively. (ox.ac.uk)
Catenin1
- Emerin interacts with -catenin through a conserved adenomatous polyposis coli (APC)-like domain. (ncl.ac.uk)
Suppressor1
- Hyperactivation of Wnt signaling initiates colorectal cancer, which most frequently results from truncation of the tumor suppressor Adenomatous polyposis coli (APC). (gla.ac.uk)
Abstract1
- abstract = "Ashkenazi Jews with the I1307K adenomatous polyposis coli gene variant were suggested to confer a higher risk for colorectal cancer (CRC). (gtiit.edu.cn)