FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Taking into consideration the prevalent (>50 %) histology and presence of mutations, patients could be subdivided into four groups: (1) APC mutated polyposis (AFAP), when adenomas were >50 % and APC mutations detected (no.
|
27783336 |
2017 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both MUTYH and APC genes are implicated in AFAP, though the role of MUTYH is of considerably greater relevance.
|
22976915 |
2013 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene.
|
23244118 |
2012 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, an SGS analysis using a large attenuated familial adenomatous polyposis pedigree identified a 1.96 Mb region containing the known causal APC gene with genome-wide significance.
|
22989048 |
2012 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype.
|
20033787 |
2010 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon 9 and 3' end).
|
20105204 |
2010 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial adenomatous polyposis (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations.
|
19701947 |
2009 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We validate the recently proposed guidelines in our patient's cohort and show that APC or MUTYH germline defects are responsible for the majority of clinically well-characterized patients with FAP and AFAP phenotype, and patients with more than 30 colorectal adenomas.
|
19793053 |
2009 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified the APC N1026S variant of unknown malignant potential in the adenomatous polyposis coli (APC) gene in a Spanish attenuated familial adenomatous polyposis (AFAP) family.
|
18166348 |
2008 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DNA mismatch repair genes are associated with high risk of digestive malignancies [hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome]; mutations of APC and MYH are associated with classic and attenuated familial adenomatous polyposis (FAP).
|
18629513 |
2008 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The AAPC syndrome is associated with mutations at the 5' region of the APC gene.
|
16710723 |
2007 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients.
|
17143620 |
2007 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened for germline MYH mutations in 82 APC-mutation-negative probands with classical and attenuated familial adenomatous polyposis using the denaturing high performance liquid chromatography (DHPLC) method in combination with sequencing.
|
17524638 |
2007 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Attenuated familial adenomatous polyposis (AFAP) is associated with germline mutations in the 5', 3', and exon 9 of the adenomatous polyposis coli (APC) gene.
|
16461775 |
2006 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We made a clinical diagnosis of attenuated adenomatous polyposis coli and performed APC gene testing.
|
16416081 |
2006 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MAP has a phenotype that is often indistinguishable from classical or attenuated familial adenomatous polyposis (FAP), but the former is inherited as a recessive condition, whereas the latter is a dominantly inherited disease caused by germline mutations of the APC gene.
|
15290654 |
2004 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to evaluate germline mutation frequencies of both MYH and APC susceptibility genes in Italian patients with attenuated familial adenomatous polyposis.
|
15188161 |
2004 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mutations in APC associated with AFAP have mainly been detected in three parts of the gene: in the 5' end (the first five exons), in exon 9 and in the distal 3' end.
|
14574166 |
2003 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that AAPC alleles in vivo may produce functional APC by internal initiation and establish a functional correlation between 5' APC mutations and their associated clinical phenotype.
|
12034871 |
2002 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
11867715 |
2002 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case.
|
12394442 |
2002 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Upon gene testing, the proband was negative for APC gene germline mutation, which made AFAP highly unlikely.
|
12135043 |
2002 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The attenuated form of familial adenomatous polyposis coli (AAPC) is associated with mutations in the adenomatous polyposis coli (APC) gene which cluster in the 5' region of the gene.
|
14574009 |
2001 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis.
|
10630180 |
1999 |
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report here the identification of a 5' APC germline mutation in five separately ascertained AAPC families from Newfoundland, Canada.
|
10598803 |
1999 |