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Validated All-in-One™ qPCR Primer for APC(NM_000038.5) Search again
Product ID:
HQP009024
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46
Gene Description:
APC regulator of WNT signaling pathway
Target Gene Accession:
NM_000038.5(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy.
Gene References into function
- Asp1822Val variant is a common polymorphism without clinical implications
- Mutation analysis in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer
- Results suggest that mutations of the beta-catenin and APC genes are rare and that activation of the Wnt signaling pathway may not contribute to pathogenesis in human papillary and follicular thyroid carcinomas.
- Mutations in APC coding region are not the sole cause of FAP or CHRP
- Nine mutations were novel and eight families were shown to harbor two recurrent mutations.
- APC regulates survivin expression: a possible mechanism contributing to the stem cell origin of colon cancer.
- Maternal mosaicism for a second mutational event-a novel deletion-in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC.
- novel 3' mutation in the APC gene in a family presenting with a desmoid tumour and minimal colonic phenotype
- silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family
- Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.
- Quantitative adenomatous polyposis coli promoter methylation analysis in tumor tissue, serum, and plasma DNA of patients with lung cancer.
- androgen receptor does not interact with adenomatous polyposis coli or glycogen synthase kinase-3beta and, therefore, conclude that androgen-mediated transport of beta-catenin occurs through a distinct pathway.
- Older age and APC mutation in the central part of the gene are risk factors for the development of severe duodenojejunal polyposis. Location of the mutation affects severity of familial adenomatous polyposis.
- Molecular alterations in the APC/beta-catenin pathway were detected in 23.5% (4 of 17) of the pancreatic acinar cell carcinomas
- APC interacts with the kinesin superfamily
- mutations rare in ulcerative colitis-related colorectal carcinomas; significant difference in frequency of APC mutations seen between right- and left-sided sporadic tumors suggests different molecular pathways
- Three APC mutations have been identified in 22 tested samples, all of them in xenografts developed from metastatic prostate tumors.
- APC germline mutations identified in Czech patients with familial adenomatous polyposis: includes 11 which were not previously reported
- Dysfunction of APC may be a major cause of changes in beta-catenin function in colorectal tumors.
- Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein
- alleles produce functional protein from internal translation initiation
- results indicate selection for APC genotypes that are likely to retain some activity in downregulating beta-catenin signaling
- demonstration of the direct interaction of APC-(129-250) fragment with the nuclear export factor chromosome maintenance region 1 (Crm-1)
- Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer. The most common combination of mutations was p53 and APC (27.1%), whereas mutations in both p53 and K-ras were extremely rare.
- Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC.
- Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15
- somatic mutation of the APC gene plays an important role in the pathogenesis of gastric adenoma and dysplasia
- Pathogenic mutations and rare variants of the gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection
- Alternations in the APC gene mutations are involved in tumor growth and in tumor progression.
- APC mutation is involved in carcinogenesis of intestinal type of gastric cancer and is independent of MSI phenotype but related to the LOH pathway in gastric cancer.
- role in mediating growth-suppressive effect of gut-enriched Kruppel-like factor
- implication of activation of the APC/beta-catenin signalling pathway due to beta-catenin mutations in the development of a subset of endometrial carcinomas
- structure of the amino-terminal nuclear export domain
- Partial loss of function of APC protein by truncation of its carboxy(C)-terminus is an early factor in the development of many colorectal neoplasms.
- Human DNA methyltransferase gene DNMT1 is regulated by the APC pathway
- In human pilomatricoma,loss of heterozygosity was observed in the APC gene, but no mutations in the mutation cluster region were found in seven tumours without beta-catenin mutations.
- Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients.
- Data indicate that the rate of nuclear export of adenomatous polyposis coli protein (APC), rather than its nuclear import or steady-state levels, determines the transcriptional activity of beta-catenin.
- study verified reduced expressions of adenomatous polyposis coli and E-cadherin proteins in colorectal cancer cells and suggests that normal protein expressions in benign epithelium are progressively and independently lost in sporadic colorectal cancers
- The APC I1307K mutation may contribute to colorectal cancers (CRC) in Israeli Arabs; inactivating mutations of MSH2 and MLH1 may not be a major cause for early onset CRC.
- APC mutations were found in 37/56 adenomas. The lack of the proliferative stimulus resulting from a K-ras mutation may contribute to the process of adenoma regression.
- Beta-catenin can increase sensitivity of the androgen receptor, it may be assumed that the increased beta-catenin-expression in angiofibromas is involved in the typical growth stimulus of this tumor in adolescent males.
- APC inactivation due to mutations, LOH and methylation is associated with invasive and in situ lobular breast cancer.
- Arg283Ter mutation in the APC gene is causative of the adenomatous polyposis coli phenotype in a Chinese family.
- APC mutation is associated with gain of 7p in colorectal adenocarcinoma.
- nuclear targeting of APC is driven by cell cycle entry rather than altered cell-cell contact. The ability of truncated APC to accumulate in the nucleus suggests that nuclear import signals other than NLS1(APC) and NLS2(APC) are functionally important.
- neither APC nor p150glued binding domain is necessary for EB1 or EBF3 to induce microtubule bundling
- Decreased expression of adenomatosis polyposis coli protein is associated with ovarian epithelial cell transformation and in tumour progression
- Mutations in apc gene is associated with both familial adenomatous polyposis and thyroid carcinoma
- Data suggest that adenomatous polyposis coli modulates microtubule plus-end attachments during mitosis, and its mutation predisposes cells to increased mitotic abnormalities, which may contribute to tumor progression.
- REVIEW: Role of APC and DNA mismatch repair genes in the development of colorectal cancers.
- a role in cell adhesion in addition to its known role in beta-catenin transcriptional signalling
- Familial adenomatous polyposis/attenuated adenomatous polyposis coli can result from APC constitutive haploinsufficiency, with gene deletion being a possible cause of reduced gene expression.
- Novel germline mutations in APC exons 5 and 11 affected age of onset in Polish Adenomatous Polyposis Coli patients Complicated with brain cancer.
- APC protein was expressed in the cytoplasm of a very small number of prospermatogonia and interstitial (Leydig) cells in testis fetal development
- This study enlarges the spectrum of APC gene mutations and sheds light on the correlation between the site of APC germline mutations and clinical manifestations of familial adenomatous polyposis.
- APC/GSK-3beta, through beta-catenin, may crossregulate NF-kappaB signaling pathway
- Mucin 1 and adenomatous polyposis coli co-immunoprecipitate in breast cancer cells.
- Mutations of APC gene were detected in more than half of hereditary non-polyposis colorectal cancers (HNPCC). Mutation was common molecular event and might play important role in tumorigenesis of HNPCC
- Genetic and epigenetic alterations of the APC gene were studied in malignant melanoma.
- APC and CDX2 have roles in controlling retinoic acid biosynthesis and in promoting a retinoid-induced program of colonocyte differentiation
- The tumor suppressor gene, APC, is an independent prognostic parameter with poor outcome in breast cancer patients.
- Results conclude about important role of APC alterations for melanoma progression.
- All three APC isoforms showing a different effect on tumorigenesis may be nontranscriptional in origin.
- APC promoter hypermethylation contributes to the loss of APC expression in colorectal cancers with allelic loss on 5q
- Results describe the crystal structure of beta-catenin in complex with a phosphorylated adenomatous polyposis coli (APC) fragment containing two 20-amino-acid repeats, whose phosphorylation could be a critical switch for APC function.
- APC forms complex with AP-2alpha and beta-catenin and sequesters beta-catenin away from TCF/LEF transcription factors.
- APC is down-regulated by the ubiquitin-proteasome pathway in a process facilitated by Axin
- Review of APC mutation that leads to genetic unstability in carcinogenesis of colon cancer
- first systematic evaluation of different single-base substitutions in APC at or close to splice sites at the transcript level, found in familial adenomatous polyposis patients
- identified a sequence in APC that binds POLB and blocks POLB-mediated strand-displacement synthesis in long patch BER without affecting short patch BER; APC gene expression is required for DNA methylation-induced sensitivity of colon cancer cells
- Truncating APC mutations have dominant effects on cell proliferation, spindle checkpoint control, survival and chromosome stability.
- identify selective beta-catenin binding hot spots of Tcf4, E-cadherin, and APC
- Feeding of Apc1638N transgenic mice with enriched diet with probiotic components during 8 months have shown a minor therapeutic effect.
- Large deletions in the APC gene are a common cause of typical familial adenomatous polyposis.
- contribution of down-regulated APC expression to the development of human oral squamous cell carcinoma was about 30%
- APC induces apoptosis and thus plays a role in tumor suppression.
- results indicate that the APC may be a candidate gene conferring susceptibility to schizophrenia and also may be associated with reduced vulnerability to cancer in schizophrenia.
- This gene encodes a tumor suppressor protein that includes among its many intracellular functions one of nuclear export. Defects in this gene cause familial adenomatous polyposis (FAP).
- The APC mutations associated wiht desmoid tumors and responsible for the behavior of the invasiveness of these neoplasms.
- analysis of rare mutations predisposing to familial adenomatous polyposis
- The I1307K mutation is associated with a moderate excess risk for CRC, but age of onset seems not to be earlier and this variant is not associated with a multiple colonic polyp phenotype.
- The sequential accumulation of mutations in adenomatous polyposis coli (APC)drives the transition from normal epithelium through increasing adenomatous dysplasia to colorectal cancer.
- Thirteen APC germline mutations were identified in 22 FAP patients. All of the mutations were nonsense or framshift mutations. FAP patients with mutations in the 5'or 3'extreme parts of the APC gene showed mild clinical symptoms.
- No significant genetic alterations were found.
- APC regulates mitotic spindle function and how errors in chromosome segregation are tolerated in tumor cells.
- APC gene mutational analysis in Korean families with familial adenomatous polyposis
- MUC5AC and MUC2, TFF1 and TFF3, APC and p21 in subsets of colorectal polyps and cancers suggests a distinct pathway of pathogenesis of mucinous carcinoma of the colorectum
- The cytoplasmic accumulation of beta-catenin is a common characteristic of oral SCC, but is not closely associated with mutational alterations in the APC, beta-catenin and Axin1 genes.
- Finds several types of meat may contribute differently to the aetiology of colon and rectal cancer, depending on APC mutation status.
- the interaction of APC with microtubules and the beta-catenin-targeting complex are mutually exclusive, and indicate that the distribution of endogenous APC between different pools is dynamic, which allows cells to distribute it as required
- Hypermethylation of Adenomatous Polyposis Coli Protein is asspciated with prostate tumorigenesis
- APC and K-ras, but not CTNNB1 mutations have roles in regulation of expression of hMLH1 in sporadic colorectal carcinomas
- sulindac sulfone can modulate the APC/beta-catenin pathway in vitro but its efficacy is dependent upon the mutational status of APC and beta-catenin
- Promoter methylation of APC was found in all Barrett esophagus samples & 95% of esophageal adenocarcinomas. Full methylation of APC correlated with lack of expression.
- the N-terminal region of the APC protein mediated its junctional localisation, consistent with the observation that truncated APC proteins in colon cancer cell lines are still capable of localising to the cell cortex
- results of this study show that esophageal squamous cell carcinoma is associated with genetic instability, that is, allelic imbalance/loss of heterozygosity and microsatellite instability of the APC gene
- In this report, we analyze the first kindred clustering Familial adenomatous polyposis (FAP) and multiple gynecolgic tumors.
- decrease of APC levels achieved by RNA interference impairs cell proliferation and DNA replication, not only in 293 cells that express a wild-type protein, but also in SW480 colon cancer cells that express exclusively a truncated APC fragment.
- Attenuated familial adenomatous polyposis (AFAP) is associated with germline mutations in the 5', 3', and exon 9 of the adenomatous polyposis coli (APC) gene.
- The association of endogenous APC with microtubule ends correlates directly with their increased growth stability, that this can occur independently of its association with EB1.
- Hypermethylation of adenomatosis polyposis coli protein is associated with primary adenocarcinomas of the small bowel
- Novel mutations within the APC gene are associated with familial and sporadic adenomatous polyposis.
- APC mutations are important in development of the cribiform-morula variant of papillary thyroid carcinoma(an extracolonic manifestations of familial adenomatous polyposis)occurring mostly in the 5' side of the APC gene between codons 308 and 935.
- Mutations in the APC gene resultt in impaired retinoic acid biosynthesis and upegulation of cyclooxygenase-2.
- The high frequency of methylation of the APC gene promoter suggests that the inactivation of tumor suppressor genes and of the genes related to the control of cellular proliferation through this mechanism is involved in gallbladder carcinogenesis.
- case of the AAPC syndrome caused by a CCTT deletion at codon 173, with polyps diagnosed at the age of 17. The father and grandfather of the proband died of colorectal cancer (CRC), which developed from untreated polyps
- the central region of APC is unstructured in the absence of beta-catenin and Axin; beta-catenin may interact with each of the APC 15aa and 20aa repeats independently
- Impaired EB1 or APC function generates lesions invisible to the spindle checkpoint and thereby promotes low levels of chromosomal loss (CIN) expected to fuel aneuploidy and possibly tumorigenesis.
- APC regulates beta-catenin phosphorylation and ubiquitination by distinct domains and by separate molecular mechanisms
- Most adenomas expressed full-length APC protein, suggesting that protein expression is not a reliable marker for assessment of APC gene mutation.
- analysis of APC gene deletion in patients with familial adenomatous polyposis
- These data indicate that somatic mutations affecting APC and CTNNB1 do not play a major role in the pathogenesis of sporadic ependymomas.
- genomic instability is an early event that occurs at precancerous stages prior to changes in tumor suppressor genes (p53 and APC) in Barrett's esophagus-associated tumorigenesis in patients
- APC transgenic mice provide an alternative model to Apc mice to study familial adenomaatous polyposis and distal sporadic colorectal cancer.
- APC methylation was associated with wildtype BRAF (p = 0.003) and with lower concentrations of methyl group carriers (p < 0.05).
- role for APC in regulating degradation of the transcriptional co-repressor C-terminal-binding protein-1 (CtBP1) through a proteasome-dependent process
- We conclude that the high incidence of CRC in Newfoundland may be attributable to genetic, or at least familial, factors. In the high-risk families we provide evidence for the involvement of founder mutations in the APC and MSH2 genes.
- Folate may enhances colorectal carcinogenesis through a distinct APC mutated pathway.
- APC E1317Q is not shown to be associated with a clinically meaningful risk of colorectal cancer
- 60S APC is a discrete high molecular weight complex with a novel function in cytoskeletal regulation in epithelial cells.
- Most desmoids with two APC hits (87%, 26/30) had one mutated allele with no 20-amino acid repeats (P < 0.001).
- APC mutations have roles in adenoma formation as well as tumour progression to invasive malignancy [review]
- These results support the notion that in attenuated polyposis patients, a detailed investigation of APC transcription can allow detection of rare alterations.
- APC interacts with Fen-1 to inhibit its activity, thus providing a second mechanism for blocking strand-displacement synthesis of long-patch base excision repair.
- Truncated APC regulates the transcriptional activity of beta-catenin in a cell cycle dependent manner.
- These data demonstrate that cell migration and microtubule stability are linked to APC status.
- The genomic locus at APC is associated with autism spectrum disorder.
- Loss of APC immediately induces chromosomal instability as a result of a combination of mitotic and apoptotic defects, which may amplify each other to increase the incidence of tetra- and polyploidy in early stages of tumorigenesis.
- in motile cells beta-catenin is recruited by IQGAP1 and N-cadherin to active membrane ruffles, wherein beta-catenin mediates the internalization and possible recycling of the membrane-associated proteins N-cadherin and APC
- Results demonstrate that cleavage of APC and the subsequent release of an amino-terminal segment are necessary for the transcription-independent mechanism of APC-mediated apoptosis.
- examined the apc 5' coding region and identified nine new transcripts generated from alternative and/or aberrant splicing
- G-->T transversion caused a splice site mutation which resulted in deletion of exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis
- both novel and reported APC mutations were identified in Czech and Slovak FAP patients
- The retained beta-catenin in cytoplasm by APC may be down-regulated by Axin 2, which is induced by beta-catenin/Tcf signaling.
- racial factor may not be related to the occurrence of mismatch repair defects and APC mutations in our multi-racial patient cohort.
- APC mosaicism is a frequent cause of familial adenomatous polyposis
- the presence of germline mutations in the adenomatous polyposis coli (APC) genes in attenuated familial adenomatous polyposis.
- Hypermutation of APC does not cause multiple colorectal adenoma.
- identified a novel frameshift mutation at exon 15, corresponding to codon 12
- results suggest a significant interaction between the D1822V APC polymorphism and the dietary intakes of cholesterol, calcium, and fiber for colorectal cancer risk
- there are somatic mutations of APC & beta-catenin genes in desmoid-type fibromatosis & abnormalities in Wnt signal pathway; these abnormalities may result in aberrant cell proliferation & apoptosis, which may be important in tumorigenesis & progression
- Familial adenomas polyp is caused by mutations in the APC tumor suppressor gene.
- APC is highly expressed in the intestinal and colorectal epithelia and it is involved in homeostasis of the enterocyte renewal phenomena, in which proliferation, migration, differentiation, and apoptosis are highly regulated both temporally and spatially
- The APC tumor suppressor mutation was ssessed in the ability of apigenin in induce cell cycle arrest in HT29-APC cells.
- A nonsense mutation in Arg1114X in the APC gene was found in 5 of 43 colorectal cancer patients. The patients also had higher rates of metastasis.
- FAP is associated with germline mutation in the APC gene inherited in an autosomal dominant manner.
- Report genetic alterations of APC in Korean colorectal cancer patients.
- Adenomatous polyposis coli gene variant is associated with colorectal cancer
- We identified two novel mutations: 1018T>C and 1309delGAAAA. This study helps in defining new biomarkers for the early diagnosis of Turkish patients with familial adenomatous polyposis.
- This paper focuses on changes in E-cadherin (CDH1), adenomatous polyposis coli (APC), and beta-catenin (CTNNB1) in 50 tumors of the central nervous system.
- Chemical dissection of APC repeat 3 multistep phosphorylation by the concerted action of protein kinases CKI and GSK3.
- the E1317Q gene variant in the APC gene is not found in cancers outside of the colon
- hypermethylation of APC has a role in progression of prostate neoplasms
- Desmoid tumors occurring in the background of familial adenomatous polyposis (FAP) usually contain inactivating germline mutations in the adenomatous polyposis coli (APC) gene.
- Two cancer-free dysmorphic patients with karyotypes that confer susceptibility to familial Adenomatous polyposis and von-Hippel-Lindau syndrome.
- Promoter hypermethylation of APC is associated with prostate cancer progression
- study detected 17 different truncating mutations APC in 21 of 24 Chilean familial adenomatous polyposis families; 9 of these were novel
- Analyzed the phenotype, DNA ploidy patterns, and microsatellite regions linked to APC gene on chromosome 5q of low-grade gastric adenomas/dysplasias, Vienna Category 3, to investigate whether these lesions have the potential to become adenocarcinomas.
- binding per se of beta-catenin by adenomatous polyposis coli does not require phosphorylation by GSK-3beta
- Promoter methylation of the APC gene seems to be of significance in hepatocarcinogenesis
- The researchers describe a family with de novo mutations of the mosaic form in a family with familial adenomatous polyposis.
- investigate the possible role of germline hypermethylation of the APC promoter in FAP and AFAP families that were negative for APC and MUTYH mutations
- No field effect, defined as absence of epigenetically transformed cells, for GSTP1 was observed, whereas APC, RARbeta2, and RASSF1A showed a field effect up to 3 mm from the malignant core in three prostatectomy samples.
- Two large AFAP (attenuated form of familial adenomatous polyposis) kindreds with the identical APC disease-causing mutation (c.426_427delAT) were linked to a founding couple who came to America from England around 1630
- genetic changes of APC gene play a role in meningioma formation.
- cancer mutations induce APC mitochondrial localization and that APC regulation of Bcl-2 at mitochondria may contribute to tumor cell survival.
- Findings strongly support a pathogenic role of the APC N1026S variant in the AFAP phenotype.
- multiple rare nonsynonymous variants in APC play a significant role in predisposing to colorectal adenomas.
- The number of beta-catenin downregulating 20-aa repeats in truncated APC gene associated with colorectal tumorigenesis is different in profuse, sparse and attenuated types of FAP, and is also different between colorectal and extracolonic tumors.
- The data support that the frequencies and patterns of somatic mutation othe APC gene in colorectal cancer are variable among different populations.
- The result of approximately 10(-5) mutations per allele per year, although higher than previous estimates, appears to be consistent with the mutational spectrum of adenomatous polyposis coli.
- Methylation of the promoter region of the APC gene in patients with stage I NSCLC treated with curative intent by means of surgery is associated with early recurrence.
- results suggest that the inactivation of the APC gene is very common in sporadic colorectal cancer, and the main inactivation mechanism of the APC gene is promoter hypermethylation
- Mutations in APC are associated with melanoma
- Tumour-associated truncations of APC abolish the interaction with beta-catenin.
- The mutation rate of the APC gene in this group of Chinese FAP families was about 48.39%, and 4 novel mutations were detected. Frameshift mutation was the major mutation type in Chinese FAP and mainly located in exon 15.
- APC gene germline mutations can cause the development of familial adenomatous poly.
- There is a conserved signature of 166 genes that were differentially expressed between adenomas and normal intestinal mucosa with APC mutation.
- Duplication in the APC gene is associated ith familial adenomatous polyposis.
- Tissue environment appears to influence the position of the 'second hit' in pouch polyps and the mutations resemble those of large bowel polyps.
- study found in colorectal carcinoma, APC hypermethylation was age related & did not cluster with CpG island methylator phenotype; hypermethylation of APC concurrently with either MGMT or hMLH1 was associated with occurrence of G-to-A transitions in APC
- APC involves in the double-strand breaks DNA repair and that truncation mutations impair chromatin-associated functions of APC
- APC can negatively regulate cell cycle progression through inhibition of DNA replication by direct interaction with DNA
- Our data indicate that this newly identified regions in the N-terminal third of APC contributes to the regulation of APC clusters.
- Increasing parity was associated with decreased APC methylation.
- Our demonstration of placental methylation of the APC-1a promoter represents the first observation of monoallelic methylation of this gene in early development
- Functional interaction between estrogen receptor(ER)s and APC shows that APC may physically associate with ER alpha in a ligand-dependent manner and enhance estrogen-dependent transactivation of the estrogen response element.
- APC has roles in chromosome instability [review]
- Germline missense APC alterations observed in 33 percent of patients with multiple colorectal neoplasms seemed to play a limited role in colorectal cancer risk when independently assessed by a population-based, case-control analysis.
- inactivation of the APC gene plays a minor role in the carcinogenesis of oral squamous cell carcinoma
- A patient with CRC at age 16 was found to carry the APC c.3183_3187del5 mutation as well as the MSH2 mutation, and it is inferred that her father, deceased of CRC at age 24, was also a double heterozygote.
- the miR-135 family regulates APC in colorectal cancer
- a germ-line allele sequence in the APC gene may have a role in risk of metachronous adenomatous polyps
- APC promoter methylation and altered nuclear beta-catenin localization is associated with digestive endocrine tumours.
- APC has a role in the G2/M transition, potentially through association with topo IIalpha
- Results show a correlation of CDH1 and APC promoter methylation with loss of E-cadherin and APC proteins and with activation of Wnt/beta-catenin signaling pathway.
- Taken together with the transcriptional activation of APC gene by alkylating agents and modulation of BER activity, APC may play an important role in carcinogenesis and chemotherapy by determining whether cells with DNA damage survive or undergo apoptosi
- The rs454886 snp in the APC tumor suppressor gene was associated with increased breast cancer risk.
- Possibly, the homozygosity of the germ-line mutation of the APC*I1307K gene in this Ashkenazi patient contributed, along with the observed somatic beta-catenin gene mutation, to the development of the desmoid tumor.
- level of APC expression determined the type of TGFbeta function in these human colon carcinoma cells
- No mutations were detected in adenomatous polyposis coli protein or beta-catenin in pulmonary artery sarcoma.
- for the first time, we report the association of aberrant methylation of the APC gene promoter with the inflammatory breast cancer phenotype
- adenomatous polyposis coli gene and nuclear b-catenin may have roles in wnt-related progression of invasive urothelial carcinomas
- The CID domain of APC is required to down-regulate the transcriptional activity and the level of beta-catenin.
- APC promoter 1A hypermethylation may influence APC expression levels in a subtle fashion, but methylation does not result in complete gene inactivation or act as a 'second hit'.
- In a large Canadian Mennonite polyposis kindred, we identified a large novel germline deletion in the APC promoter region by linkage analysis and MLPA.
- Molecular diagnostics of Slovak familial Adenomatous Polyposis Coli families revealed broad palette of mutations in crucial APC gene
- Loss of heterozygosity is observed at the APC locus in 52% of sporadic colorectal tumors in this study.
- We present new APC mutations and specifically discuss two cases that demonstrate the broad phenotypic spectrum in familial adenomatous polyposis
- The SCF(beta-TrCP) binding site created by phosphorylation of beta-catenin is highly vulnerable to protein phosphatase 2A (PP2A) and must be protected by the adenomatous polyposis coli (APC) tumor suppressor protein.