Genes apc. Medical search. Frequent questions

Although APC -related desmoid tumors are commonly associated with a form of colon cancer called familial adenomatous polyposis (described below), APC gene mutations can cause tumors in individuals without this inherited disease. (medlineplus.gov)
More than 700 mutations in the APC gene have been identified in families with the classic and attenuated types of familial adenomatous polyposis (FAP). (medlineplus.gov)
Mutations in the APC gene are also responsible for a disorder called Turcot syndrome, which is closely related to familial adenomatous polyposis. (medlineplus.gov)
Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. (bmj.com)
Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. (bmj.com)
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. (ox.ac.uk)
Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal tumor predisposition that results from germ-line mutations in the APC gene (chromosome 5q21). (ox.ac.uk)
[3] This gene is also mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer. (wikipedia.org)
It is determined by the autosomal dominant familial polyposis coli gene (APC) on chromosome 5 . (wikipedia.org)
Mutations in the APC gene cause a group of polyposis conditions that have overlapping features: familial adenomatous polyposis, Gardner syndrome, Turcot syndrome and attenuated FAP. (rarediseases.org)
Familial adenomatous polyposis is caused by germline (present in the first cell of the embryo) mutations in the APC gene and is inherited in an autosomal dominant manner, meaning that on average 50% of children of an affected parent will have the disease passed on to them. (rarediseases.org)
APC, a tumor suppression gene altered in familial adenomatous polyposis. (mindmeister.com)

Future therapeutic strategies for APC-deficient colorectal cancers might be expanded to include agents targeting the AP-1 pathway. (duke.edu)
Chromatin immunoprecipitation of APC and next-generation sequencing were performed from HCT-116 colon cancer cells, which express wild-type APC yet can model the APC loss observed in the majority of colorectal cancers following transient si RNA-based silencing. (oncotarget.com)
The disturbance of epigenetic processes in cancers, can lead to a loss of expression of genes that occurs about 10 times more frequently by transcription silencing (caused by epigenetic promoter hypermethylation of CpG islands) than by mutations. (wikipedia.org)
Frameshift mutation of MAPRE3, a microtubule-related gene, in gastric and colorectal cancers with microsatellite instability. (nih.gov)
Most patients carry a missing or damaged p53 gene, a tumor suppressor whose activity is impaired in almost 50% of all cancers. (nature.com)
A diagram showing the major cancer genes for some cancers. (cancerquest.org)
ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
This condition occurs when mutations of the NF1 or NF2 gene increase the risk of cancers such as schwannomas , gliomas , and meningiomas . (medicalnewstoday.com)
identified 189 frequently mutated genes associated with these cancers, most of which were not previously known. (frontiersin.org)
Table 1 provides a summary of cancers and gene mutations. (frontiersin.org)
The team also found that APOBEC-driven SGMs associated specifically with APOBEC3A gene expression were seen in both breast and head and neck cancers. (medscape.com)

Germline mutations in the tumor suppressor adenomatous polyposis coli gene (APC) on chromosome 5q22.2 are responsible for the most cases of FAP. (spandidos-publications.com)
Gardner syndrome is caused by mutation in the adenomatous polyposis coli (APC gene), located in chromosome 5q21 (band q21 on chromosome 5). (wikipedia.org)
The factor VIII gene is located on the X chromosome. (medscape.com)

In the present study, the effect of MSG on cell viability and its effect on expression of APC , BECN1 , and TP53 genes in SW620 and SW480 colon cancer cell lines were studied. (scielo.br)
TP53 is a tumor suppressor gene that functions in modifying DNA errors and/or inducing apoptosis of damaged cells, and both APC and BECN1 genes are involved in CRC and are of importance in cellular growth and metastasis. (scielo.br)
Neste estudo, foram estudados o efeito do MSG na viabilidade celular e seu efeito na expressão dos genes APC, BECN1 e TP53 em linhas de células de câncer de cólon SW620 e SW480. (scielo.br)
TP53 é um gene supressor de tumor que atua modificando erros de DNA e/ou induzindo apoptose de células danificadas, estando os genes APC e BECN1 envolvidos no CRC e sendo importantes no crescimento celular e metástase. (scielo.br)
Changes in the TP53 gene increase the risk of gliomas in the brain and other areas of the body, such as the breasts. (medicalnewstoday.com)
These SGM mutations frequently affect cancer tumor suppressor genes such as TP53 , FAT1 , and APC , keeping them from fully forming to produce proteins that prevent abnormal cells from growing and causing cancer. (medscape.com)

APC gene mutations typically cause formation of desmoid tumors in the abdomen, but these tumors can also occur in other parts of the body. (medlineplus.gov)
Most APC gene mutations that cause sporadic desmoid tumors lead to an abnormally short APC protein. (medlineplus.gov)
Mutation of the APC gene occurs in a high percentage of colorectal tumors and is a central event driving tumor initiation in the large intestine. (duke.edu)
However, in colon tumors compared to adjacent normal-appearing colonic mucosa, there are about 600 to 800 heavily methylated CpG islands in the promoters of genes in the tumors while these CpG islands are not methylated in the adjacent mucosa. (wikipedia.org)
Mutations of the Adenomatous polyposis coli (APC) gene is often at the origin of this disease, as well as of a high percentage of spontaneous colorectal tumors. (pasteur.fr)
Changes in the VHL gene make the development of numerous benign and cancerous tumors, including in the brain and spinal cord , more likely. (medicalnewstoday.com)
This is where people have mutations on the APC , MLH1 , or PMS2 genes that increase the risk of brain tumors and gliomas. (medicalnewstoday.com)
Changes in the TSC1 or TSC2 gene make it more likely for benign tumors in the brain and elsewhere in the body to occur. (medicalnewstoday.com)

In Israel, this is confounded by the fact that national health insurance does not fully cover genetic evaluation of APC gene exon 16. (tau.ac.il)
Analyses included completion of APC gene exon 16 sequencing, analysis for APC gene copy number variations (deletions or duplications), MUTYH gene sequencing, and microsatellite instability in CRC patients fulfilling "Bethesda" (laboratory investigation) criteria for Lynch syndrome. (tau.ac.il)
Results: Completion of APC gene exon 16 sequencing revealed one patient with the E1317Q polymorphism. (tau.ac.il)
Completing APC exon 16 sequencing and copy number variations analysis should probably be the last evaluations. (tau.ac.il)
We have developed a real-time quantitative multiplex PCR assay to detect APC exon 14 deletions. (ox.ac.uk)
Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. (spandidos-publications.com)
The APC gene comprises of 16 exons (NM_000038.5), including1 upstream non-coding exon and 15 coding exons. (spandidos-publications.com)
APC gene testing was done, and the patient had a truncating mutation at the 3′ end of the APC gene in exon 15. (bmj.com)
A 133 bp fragment, spanning exon 11 of the APC gene was amplified, and Rsal digestion of the PCR product defined the alleles as either homozygous 133 bp (Rsa(-/-)) or 87 and 46 bp (Rsa(+/+)) fragments, and heterozygous (Rsa(+/-)) exhibiting the three fragments. (who.int)

The APC gene provides instructions for making the APC protein, which plays a critical role in several cellular processes. (medlineplus.gov)
The APC protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. (medlineplus.gov)
The APC protein accomplishes these tasks mainly through association with other proteins, especially those that are involved in cell attachment and signaling. (medlineplus.gov)
One protein with which APC associates is beta-catenin. (medlineplus.gov)
Most of these mutations lead to the production of an abnormally short, nonfunctional version of the APC protein. (medlineplus.gov)
This mutation changes the sequence of the building blocks of proteins (amino acids) in the resulting APC protein. (medlineplus.gov)
This mutation replaces the amino acid isoleucine with the amino acid lysine at position 1307 in the APC protein (written as Ile1307Lys or I1307K). (medlineplus.gov)
The APC protein performs multiple tumor suppressor functions including negative regulation of the canonical WNT signaling pathway by both cytoplasmic and nuclear mechanisms. (duke.edu)
Initial target selection was performed by comparison and statistical analysis of 3,985 genomic regions associated with the APC protein to whole transcriptome sequencing data from APC-deficient and APC-wild-type colon cancer cells, and two types of murine colon adenomas characterized by activated Wnt signaling. (duke.edu)
The protein encoded by this gene is a member of the RP/EB family of genes. (nih.gov)
The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. (nih.gov)
Our recent work indicates that the APC protein is involved in various phases of both CD4 and CD8 T cells responses. (pasteur.fr)
The APC protein, which comprises of 2843 amino acids, plays an important role in the β-catenin nuclear localization ( 8 ). (spandidos-publications.com)
Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
Factor VIIIa is inactivated by thrombin or activated protein C (APC). (medscape.com)
Contains the gene for the orthologs of the three isoforms of mouse DNMT3B (DNA Cytosine-5 Methyltransferase 3B) and the gene for EB1 (APC binding protein). (lu.se)

Routine mutation detection techniques fail to detect a pathogenic APC germ-line mutation in approximately 30% of patients with classical polyposis and 90% of those with AAPC/multiple adenomas. (ox.ac.uk)

This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
The study identified 2 genes known to contribute to tumor progression and 8 known to be present in tumor cells but which have unknown functions. (frontiersin.org)

The following product was used in this experiment: LAP (Latency Associated peptide) Monoclonal Antibody (FNLAP), APC, eBioscience™ from Thermo Fisher Scientific, catalog # 17-9829-42, RRID AB_2573316. (thermofisher.com)
D3 mouse embryonic stem cell line was stained with Rat Anti-Mouse LIF Ra APC-conjugated Monoclonal Antibody (Catalog # FAB5990A, filled histogram) or isotype control antibody (Catalog # IC005A , open histogram). (rndsystems.com)
COLO 205 human colorectal adenocarcinoma cell line was stained with Rat Anti-Human/Mouse EphB2 APC-conjugated Monoclonal Antibody (Catalog # FAB467A, filled histogram) or isotype control antibody (Catalog # IC006A , open histogram). (rndsystems.com)
No. 553047), fixed, permeabilized, and subsequently stained with 0.25 µg of APC-conjugated rat anti-mouse IL-2 antibody (APC-JES6-5H4, Cat. (bdbiosciences.com)
To demonstrate specificity of staining, the staining by APC-JES6-5H4 was blocked by each of the following: 1) preincubation of the conjugated antibody with recombinant mouse IL-2 (0.25 µg, Cat. (bdbiosciences.com)
The following product was used in this experiment: IL-17A Monoclonal Antibody (eBio17B7), APC, eBioscience™ from Thermo Fisher Scientific, catalog # 17-7177-81, RRID AB_763580. (thermofisher.com)

First described in 1988, AFAP is characterised by 5′ and 3′ mutations of the APC gene, oligopolyposis (fewer than 100 adenomatous polyps) at presentation, marked phenotypic variation within pedigrees, and older age of colorectal cancer than FAP. (bmj.com)

In different types of cancer, a variety of epigenetic mechanisms can be perturbed, such as the silencing of tumor suppressor genes and activation of oncogenes by altered CpG island methylation patterns, histone modifications, and dysregulation of DNA binding proteins. (wikipedia.org)
Hamartomatous polyps in syndromic settings can show germline mutations in tumor suppressor genes or oncogenes and carry malignant potential. (webpathology.com)
The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
The mutated or otherwise damaged versions of these genes are called oncogenes. (cancerquest.org)
We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
Numerous genes have been identified as proto-oncogenes. (cancerquest.org)
As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.org)

Scholars@Duke publication: Chromatin-associated APC regulates gene expression in collaboration with canonical WNT signaling and AP-1. (duke.edu)
Published reports that APC interacts with β-catenin in the chromatin fraction to repress WNT-activated targets have raised the possibility that chromatin-associated APC participates more broadly in mechanisms of transcriptional control. (duke.edu)
High-confidence targets additionally validated in mouse adenomas included 16 increased and 9 decreased in expression following APC loss, indicating that chromatin-associated APC may antagonize canonical WNT signaling at both WNT-activated and WNT-repressed targets. (duke.edu)
Chromatin-associated APC regulates gene expression in collaboration with canonical WNT. (oncotarget.com)
Gene expression data were collected from HCT-116 cells in the presence or absence of si RNA targeting APC and were compared to Ch IP-seq data to identify candidate genes controlled by chromatin-associated APC. (oncotarget.com)

Targeted-capture sequencing of 171 potentially colorectal cancer-associated genes was performed, and somatic single-nucleotide variants and insertion-deletions were determined. (bvsalud.org)

APC is therefore considered a tumor suppressor gene. (pasteur.fr)

Family history remains one of the major risk factors that contribute to cancer, and recent studies have identified several genes whose germline mutations are associated with cancer. (nature.com)

CMMRD syndrome is caused by genetic changes in both copies of a mismatch repair gene. (choa.org)
Genes encoding DAN mismatch repair enzymes are implicated in hereditary nonpolyposis colon cancer. (mindmeister.com)

Our results indicate that canonical WNT signaling can collaborate with or antagonize the AP-1 transcription factor to fine-tune the expression of shared target genes in the colorectal epithelium. (duke.edu)

289 transcripts altered in expression following APC loss in human cells were linked to APC-associated genomic regions. (duke.edu)

5 Two distinct types of multiple endocrine neoplasias are associated with the RET and MEN1 6 genes while VHL alterations result in kidney and other types of cancer. (nature.com)
When neoplasms arise, they are modulated by the interactions of multiple genes based on a great diversity of genetic alterations, which leads to high tumoral heterogeneity. (nature.com)
Genes with alterations associated with relapse-free survival were analyzed using multivariable Cox regression models. (bvsalud.org)

While the role of APC in intestinal epithelium homeostasis is well characterized, its importance in immune responses remains ill defined. (pasteur.fr)

The remaining cases develop from mutations in the genes that cause hereditary non-polyposis colorectal cancer (HNPCC) also known as Lynch syndrome. (rarediseases.org)

mutations in the genes that cause HNPCC are more commonly associated with glioblastoma. (rarediseases.org)

and BRCA1, another DNA-repair gene. (wikipedia.org)

This screening study has used chromatin immunoprecipitation and next-generation sequencing to identify APC-associated genomic regions in colon cancer cell lines. (duke.edu)
Motif analysis and comparison to ChIP-seq datasets for other transcription factors identified a prevalence of binding sites for the TCF7L2 and AP-1 transcription factors in APC-associated genomic regions. (duke.edu)
APC interacts with -catenin in a cytoplasmic complex that facilitates -catenin degradation, while nuclear APC facilitates both -catenin export to the cytoplasm and -catenin removal from specific genomic loci. (oncotarget.com)
Multiple gene mutations appeared to impact relapse-free survival, suggesting that tumor genomic profiling can support precision medicine for colorectal cancer. (bvsalud.org)

Objectives: To perform a comprehensive genetic evaluation of APC gene mutation-negative polyposis patients with the aim of developing a future evaluation protocol. (tau.ac.il)

Loss of APC function results in increased level of β-catenin and activation of growth-promoting genes via the increased β-catenin/Tcf-4 transcription complexes, subsequently leading to the development of adenomatous colorectal polyps at a young age ( 9 ). (spandidos-publications.com)
These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
The identified transcription factors influence both the global and specific gene expression of the BCLs and have possible implications for diagnosis and treat- ment. (lu.se)

Methods: Genetic analyses were performed in 29 APC gene mutation-negative Jewish individuals with 5 to ≥ 40 colonic adenomas who did not fulfill Amsterdam (clinical) criteria for Lynch syndrome. (tau.ac.il)
Screening for germ-line deletions in APC mutation-negative individuals with classical polyposis seems warranted. (ox.ac.uk)

2003. Suppression of tumorigenesis in the Apc(min) mouse: down-regulation of beta-catenin signaling by a combination of tea plus sulindac. . (oregonstate.edu)
Effect of EI24 expression on the tumorigenesis of Apc(Min/+) colorectal cancer mouse model. (nih.gov)

CONCLUSIONS: APC gene inactivation concerns minority of patients with esophageal adenocarcinoma, however, its detection indicates higher risk of progression to ADC. (who.int)
Any of several mutations to factor V make it resistant to inactivation by APC, increasing the tendency for thrombosis. (msdmanuals.com)

Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)

Beta-catenin helps control the activity (expression) of particular genes and promotes the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation). (medlineplus.gov)
Our data suggest at least two models in which canonical WNT-mediated transcriptional activity, APC and AP-1 alter gene expression. (oncotarget.com)
High-confidence candidate genes were likely shared targets of canonical WNT signaling and surprisingly included both genes increased in expression following APC loss and decreased in expression following APC loss. (oncotarget.com)
Epigenetic mechanisms are necessary to maintain normal sequences of tissue specific gene expression and are crucial for normal development. (wikipedia.org)
In the last decade, diagnostic and prognostic evaluation has been facilitated by global gene expression profiling (GEP), provid- ing a new powerful means for the classification, prediction of survival, and response to treatment of lym- phomas. (lu.se)

8 Genetic tests based on these highly penetrant gene mutations have shown their usefulness, but they can explain only a small fraction (5-10%) of patients. (nature.com)
Genetic evaluation of those patients who test negative for APC gene mutation is both a clinical and economic burden but is critical for counseling and surveillance. (tau.ac.il)
This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future. (spandidos-publications.com)
Dominant genetic disorders occur when only a single copy or allele of a specific gene is mutated, thereby causing a particular disease. (rarediseases.org)
A pediatric cancer predisposition syndrome happens when a child is born with a genetic mutation that changes how a specific gene works. (choa.org)
The genetic changes that cause this syndrome are found in the DICER1 gene, a tumor suppressor gene. (choa.org)
My genetic counselor recommend testing for a 21 gene panel. (breastcancer.org)

Fine-mapping of the region suggested that the majority (6 of 7) of these deletions encompassed the entire APC locus, confirming that haploinsufficiency can result in a classical polyposis phenotype. (ox.ac.uk)

Approximately two-thirds of people with Turcot syndrome have mutations in the APC gene. (medlineplus.gov)
A certain mutation in the APC gene (unrelated to Turcot syndrome) is found in approximately 6 percent of people with Ashkenazi (eastern and central European) Jewish heritage. (medlineplus.gov)
[8] There are many terms used to describe "APC-associated polyposis condition" including FAP, attenuated FAP, Gardner syndrome, Turcot syndrome, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). (wikipedia.org)
Two-thirds of cases of Turcot syndrome develop from mutations in the APC gene. (rarediseases.org)

Most of the mutations causing FAP are nonsense or frameshift mutations, and can result in premature stop codons thus produce truncated APC proteins ( 7 ). (spandidos-publications.com)
Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)

The cover for issue 58 of Oncotarget features Figure 7, "Models of WNT-mediated transcriptional activation and repression involving TCF7L2, AP-1, β-catenin and APC," by Hankey, et al. (oncotarget.com)
Figure 7: Models of WNT-mediated transcriptional activation and repression involving TCF7L2, AP-1, β-catenin and APC. (oncotarget.com)
Indeed, cancer cells can become addicted to the transcriptional silencing, due to promoter hypermethylation, of some key tumor suppressor genes, a process known as epigenetic addiction. (wikipedia.org)

The excitation of APC by 600-635 nm laser light induces a fluorescence emission maximum of 660 nm. (biolegend.com)

Gene signatures derived from the genes containing functionally germline variants significantly distinguished recurred and non-recurred patients in two ER+ breast cancer independent cohorts ( n = 200 and 295, P = 1.4 × 10 −3 ). (nature.com)
otherwise MUTYH sequencing is probably the first step in evaluating APC-negative patients, especially for Jews of North African descent. (tau.ac.il)
A further group of individuals, so-called "multiple" adenoma patients, have a phenotype like AAPC, with 3-99 polyps throughout the colorectum, but mostly have no demonstrable germ-line APC mutation. (ox.ac.uk)
MATERIAL AND METHODS: In esophageal mucosal samples of 79 patients with: GERD (n=33), BE (n=27), BE+dysplasia (n=8) and ADC (n=11) we have studied LOH of APC tumor suppressor gene using PCR-restriction fragment length polymorphism (RFLP). (who.int)
RESULTS: Among 79 patients, there were 16 heterozygous (20%) for APC gene. (who.int)

These cells were then stained with Fixable Viability Dye eFluor® 450 (Product # 65-0863-14), followed by surface staining with Mouse IgG1 K Isotype Control APC (Product # 17-47. (thermofisher.com)

SMAD4 or BMPR1A is known as a causative gene of JPS. (bvsalud.org)

Streptavidin-APC is useful for detecting biotinylated antibodies. (biolegend.com)
Streptavidin-Allophycocyanin (APC) is useful as a second step reagent for indirect immunofluorescent staining, when used in conjunction with biotinylated primary antibodies. (biolegend.com)

All were normal by APC multiplex ligation-dependent probe amplification analysis. (tau.ac.il)

This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
Tobacco smoking is linked to "stop-gain mutations" (SGMs) that interfere with the formation of tumor suppressor genes, which help keep abnormal cells in check, new research suggests . (medscape.com)

This APC-conjugated reagent can be used in any flow cytometer equipped with a a dye, HeNE or red diode laser. (bdbiosciences.com)

The APC price will be determined from the date on which the article is accepted for publication. (nature.com)
For information about the APC applicable for articles accepted for publication next year, please see our journal lists . (nature.com)

APC alternations appear to be early in GERD-BE-dysplasia-ADC sequence. (who.int)

Anatomy1

Diseases3

Chemicals and Drugs17

Phenomena and Processes6

Information Science1

Familial12

Cancers11

Chromosome3

TP536

Tumors8

Exon9

Protein18

Germ-Line Mutation1

Contribute to tumor2

Antibody6

Mutations of the APC gene1

Oncogenes7

Chromatin-associated5

Somatic1

Considered a tumor supp1

Germline mutations1

Mismatch repair2

Target genes1

Altered in expression followin1

Alterations3

Intestinal1

Hereditary1

Commonly1

BRCA11

Genomic4

Polyposis patients1

Transcription4

Mutation-negative2

Tumorigenesis2

Inactivation2

Progression1

Expression5

Genetic7

Deletions1

Turcot4

Proteins2

Transcriptional3

Excitation1

Patients5

Isotype Control1

Causative1

Antibodies2

Multiplex1

Abnormal2

Reagent1

Publication2

Sequence1