Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, biallelic germline variants in the base excision repair (BER) gene: MUTYH have been identified in patients with attenuated FAP and/or negative APC result.
|
31739127 |
2020 |
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
Expression levels of miR31 and miR92a were evaluated by real-time PCR using TaqMan probes; in addition, two oncogenes (KRAS and c-MYC) and two tumor suppressors (AMP-activated protein kinase [AMPK] and adenomatous tumors of polyposis coli [APC]) were quantified to validate the biological effects; normalization of expression levels were carried out by 2<sup>-ΔΔCt</sup>.Results were analyzed by one-way ANOVA.
|
31441682 |
2020 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Quantitative RNA studies and DNA sequencing of the APC promoters/ Exon 1 may be useful diagnostically for patients with suspected FAP when coding region variants cannot be identified.
|
31383941 |
2020 |
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study was aimed to determine APC and MUTYH mutational status in a small cohort of FAP probands in China and to characterize the genotype-phenotype correlation in mutated patients.
|
31062380 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome associated with mutation in the adenomatous polyposis coli (APC) gene, a tumour suppressor located on chromosome 5q21.
|
31712236 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BACKGROUND Familial adenomatous polyposis (FAP), which has a very high tendency of progression to colorectal cancer, is mainly caused by mutations of the adenomatous polyposis coli (APC) gene.
|
31113927 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis coli (FAP) is an autosomal-dominant inherited disease caused by germline mutations in the adenomatous polyposis coli (APC) gene.
|
30724425 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrated that metabolites alterations in FAP can be helpful for further analysis of metabonomics induced by APC mutation, and these alterations might be involved in the progress of intestinal carcinogenesis.
|
30983515 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Individuals with ≥10 colorectal polyps have traditionally been referred for genetic diagnostic testing to identify APC and MUTYH mutations which cause FAP and MAP respectively.
|
30904095 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three FAP clinical variants are correlated with the location of <i>APC</i> mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at <i>APC</i> extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediate colonic polyposis (100-1000 adenomas), associated with mutations located in the remaining part of <i>APC</i> In an effort to decipher the clinical phenotype associated with APC C-terminal germline truncating mutations in patients with FAP, after screening <i>APC</i> mutations in one family whose members (n=4) developed gastric polyposis, colon oligo-polyposis and desmoid tumours, we performed a literature meta-analysis of clinically characterised patients (n=97) harbouring truncating mutations in APC C-terminus.
|
31591141 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary polyposis syndromes in which APC gene germline mutations can lead to colorectal carcinogenesis are familial adenomatous polyposis (FAP), attenuated FAP (AFAP) and MUTYH-associated polyposis.
|
30836352 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
To understand and dissect the mechanisms driving human NK cell proliferation, we exploited the methodology used in cell therapy to numerically expand NK cells in the presence of K562-derived artificial APC (aAPCs) and cytokines.
|
31201235 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we use polarization-resolved microscopy, FRAP, live cell imaging, and a mutant of Adenomatous polyposis coli (APC-m4) defective in actin nucleation to investigate the role of actin assembly in FA turnover.
|
31471457 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene.
|
30569724 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort.
|
30852976 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutant APC proteins truncated within the mutation cluster region physically engage the destruction complex and suppress the WNT transcriptional program, while APC variants with early truncations (e.g., <i>Apc</i><sup>Min</sup>) show limited interaction with AXIN1 and β-catenin, and do not respond to TNKS blockade.
|
31337618 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome driven by germline loss-of-function of the APC gene and phenotypically manifests with intestinal polyposis and a variety of extra-intestinal bone and soft tissue tumors.
|
30919136 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because mosaic APC mutations are more frequent than previously thought, the presence of mosaic mutations must be considered when analyzing genetic tests of patients with FAP.
|
31269945 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
The adenomatous polyposis coli (APC) gene plays, among other things, a crucial role in the regulation of cell proliferation and survival through its ability to regulate canonical Wnt signaling.In this issue of the JCI, Wang et al. provide an intriguing new mechanism for APC function involving the regulation of a novel long noncoding RNA (lncRNA), leading to changes in exosome production.
|
30640173 |
2019 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hepatoblastoma may present at birth, and screening for hepatoblastoma in infancy in families with FAP prior to APC mutation testing results may be warranted.
|
29719120 |
2018 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively.
|
30324682 |
2018 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene.
|
29368261 |
2018 |
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, neural/glial antigen 2-positive signals and adenomatous polyposis coli (APC/CC1)-positive cell numbers were unchanged by siRNA treatment.
|
28986688 |
2018 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p < 0.0001).
|
30012100 |
2018 |
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
|
29367705 |
2018 |