|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
The truncated APC gene retained 3 repeats in 88% (7/8) of FAP duodenal tumors, 100% (26/26) of gastric tumors retained 2 or 3 repeats and 83% (5/6) of desmoid tumors retained 2 repeats.
|
18224684 |
2008 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biallelic APC inactivation was responsible for functional adrenocortical adenoma in familial adenomatous polyposis with novel germline mutation of the APC gene: report of a case.
|
19684041 |
2009 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
The APC gene (adenomatous polyposis coli) at 5q21 is a tumor suppressor gene which is mutant in FAP.
|
11196455 |
2000 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features.
|
9496836 |
1998 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of more immediate clinical interest is the observation that specific APC mutations appear to participate in the severity of the disease and determine the development of hypertrophy of the retinal pigment epithelium, a diagnostically important manifestation of the APC disease found in 70% of the patients.
|
7675542 |
1995 |
|
Adenomatous Polyposis Coli
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The results suggest that zinc treatment stabilizes the levels of the wild-type adenomatous polyposis coli (APC) protein at the post-translational level since the APC mRNA levels and the promoter activity of the APC gene were decreased in HCT-116 cells (which express the wild-type APC gene) after treatment with ZnCl2.
|
15368361 |
2004 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family.
|
8381581 |
1993 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chinese and English literature on APC germline mutations were reviewed to compile the mutation spectrum of APC gene in Chinese FAP patients.
|
26625971 |
2016 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors.
|
16158975 |
2005 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The adenomatous polyposis coli (APC) gene, responsible for familial adenomatous polyposis, is also associated with development of sporadic tumors in digestive system as colon, stomach, or pancreas.
|
8242071 |
1993 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis.
|
9182775 |
1997 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing revealed a mutation in the 5' portion of the adenomatous polyposis coli (APC) gene, in a region associated with an attenuated APC phenotype.
|
22150579 |
2012 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis (FAP) is an autosomal-dominant colorectal cancer syndrome, caused by a germline mutation in the adenomatous polyposis coli (APC) gene, on chromosome 5q21.
|
16454848 |
2006 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Samples of constitutional DNA from 60 unrelated patients with adenomatous polyposis coli (APC) were examined for mutations in the APC gene.
|
8381579 |
1993 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study we screened all of the exons of the APC gene in individuals belonging to 85 Portuguese FAP families.
|
10923044 |
2000 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to determine the usefulness of a new method, submerged gel electrophoresis, in the detection of the most-frequent mutation of the APC gene [5-base pair (bp) deletion in codon 1309], especially in the presymptomatic diagnosis of FAP.
|
11485029 |
2001 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene.
|
9724771 |
1998 |
|
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 |
The adenomatous polyposis coli (APC) gene at chromosome 5q21 that is responsible for familial adenomatous polyposis (FAP) was recently isolated, and germ-line mutations in a substantial number of FAP families were characterized.
|
8385047 |
1993 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans.
|
1350108 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA methylation was tested at Methylated IN Tumor (MINT) loci (1,2,12,31) and the CpG promoter region of genes MLH1, HPP1, MGMT, p14ARF and p16INK4a in FAP-associated adenomas (33) from 5 patients with a known APC mutation (Group 1, FAP), adenomas (29) from 4 Multiple Adenoma patients (Group 2 Multiple), adenomas (14) from 3 patients with sporadic colorectal cancers showing high microsatellite instability (Group 3, MSI-H) and adenomas (16) from 7 patients, with sporadic colorectal cancers showing microsatellite stable or low level instability (Group 4, MSS/MSI-L).
|
16152625 |
2006 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Adenomatous polyposis coli (APC) represents the key intracellular gatekeeper of β-catenin turnover, and heterozygous germ-line mutations in the APC gene cause familial adenomatous polyposis (FAP).
|
20564245 |
2010 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
Adenomatous polyposis coli (APC) is a kind of multifunctional protein encoded by the APC gene that participates in many vital activities of organisms.
|
21860414 |
2012 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Until now, there has been no evidence about the expressive phenotype due to mutation in codons 1060-1061 of the APC gene; the role of germline missense mutation in codon 210 of the p53 gene in the FAP malignant process remains to be elucidated too.
|
11263856 |
2000 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.
|
7795585 |
1995 |