|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
Adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and its variants, and the recently identified MYH- (mutY homolog)-associated polyposis.
|
15478312 |
2004 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations.
|
15761860 |
2005 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We searched for APC and MUTYH germline alterations in Italian and Greek patients with attenuated polyposis, a phenotypic variant whose genetic cause remains unknown in many cases.
|
18091433 |
2007 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in MUTYH gene were detected in 3/12 (25%) remaining subjects with polyposis and in 6/90 (6.7%) patients with colorectal cancer (CRC) carrying KRAS p.G12C substitution, but not in 231 early-onset CRC cases negative for KRAS p.G12C allele.
|
29406563 |
2018 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Polyposis associated with mutations in the gene MUTYH is an autosomal recessive syndrome characterised by the development of multiple colorectal adenomas and cancer.
|
15465463 |
2004 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
MYH polyposis syndrome: clinical findings, genetics issues and management.
|
24643704 |
2014 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To evaluate this risk, we describe the findings of endoscopic surveillance of the rectal stump in a series of patients with biallelic MutYH mutations and polyposis.
|
21178863 |
2010 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Age at onset of polyposis and age at surgery were 10-15 years delayed for carriers of MUTYH mutations; cancer at diagnosis was frequent, and extracolonic manifestations were diagnosed in the majority of MUTYH-positive families.
|
19593690 |
2009 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MYH mutations have been observed in one-third of patients with attenuated polyposis.
|
17674103 |
2007 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MYH biallelic mutation carriers were up to 60% (5 of 8) among patients showing at least 30 adenomas and a family history with no vertical transmission of polyposis.
|
15188161 |
2004 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Profuse gastrointestinal polyposis is associated with rare, inherited colorectal cancer predisposition syndromes, most commonly caused by mutations in the adenomatous polyposis coli (APC) or mutY homolog (MUTYH) genes.
|
24362051 |
2014 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, biallelic mutations in the base excision repair gene MUTYH have been associated with polyposis and early-onset colorectal cancer.
|
16941501 |
2006 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The biallelic inactivation of the 8-hydroxyguanine repair gene MUTYH leads to MUTYH-associated polyposis (MAP), which is characterized by colorectal multiple polyps and carcinoma(s).
|
24799981 |
2014 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
Several genetically defined hereditary colorectal cancer (CRC) syndromes are associated with colonic polyposis including familial adenomatous polyposis (FAP) and MUTYH adenomatous polyposis (MAP).
|
23460355 |
2013 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identifying patients with germline MUTYH mutation-associated polyposis is presently difficult.
|
19031083 |
2009 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
APC mutations predominated in patients with classic polyposis, whereas prevalence of APC and MUTYH mutations was similar in attenuated polyposis.
|
22851115 |
2012 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we analyzed the prevalence of imbalances in the allelic expression of APC in polyposis families with germline mutations in the gene and without detectable mutations in APC and/or MUTYH.
|
20434453 |
2010 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer.
|
16455870 |
2006 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Twenty-four percent of the APC-negative patients carried biallelic MUTYH germline mutations, and showed an attenuated polyposis phenotype generally without extracolonic manifestations.
|
19531215 |
2009 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Both cases harboring biallelic MYH mutations had multiple polyps but not profuse polyposis.All cases had distally sited tumors.
|
14991577 |
2004 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a MUTYH variant, p.C306W (c.918C>G), with a tryptophan residue in place of native cysteine, that ligates the [4Fe4S] cluster in a patient with colonic polyposis and family history of early age colon cancer.
|
29915346 |
2018 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
There were only a few, but definitive dissimilarities between APC- and MUTYH-associated FAP in our cohort: the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation.
|
26446593 |
2016 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data suggest that screening of MYH should be considered not only in patients with multiple polyps but also in patients with early-onset CRC.
|
15236166 |
2004 |