|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.
|
31527860 |
2020 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A Biallelic MUTYH germline variant were found in all patients and showed an attenuated polyposis phenotype almost of them without extra-colic manifestations: The known pathogenic frameshift variant c.1227_1228dupGG (p. Glu410Glyfs) was found, in homozygous state, in 13 index patients.
|
31739127 |
2020 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients were first-degree relatives of a patient who had polyposis with biallelic MUTYH mutation and carrying a single gene mutation of the gene from 12 French centers.
|
30640315 |
2019 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Single molecule glycosylase studies with engineered 8-oxoguanine DNA damage sites show functional defects of a MUTYH polyposis variant.
|
30698731 |
2019 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
|
29105096 |
2018 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We analysed all cases of attenuated polyposis observed over the last 30 years with the objectives: (A) to classify the disease according to different type and proportion of polyps; (B) To ascertain the contribution of APC and MutYH genes; (C) to discover features which could arise the suspicion of mutations; (D) To obtain indications for management and follow-up.
|
27783336 |
2017 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the sample size is still too small to conclude, the IVS10-2A>G MUTYH heterozygote might add to the risk of developing germline APC mutation negative polyposis.
|
26684191 |
2016 |
|
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 |
MYH polyposis syndrome: clinical findings, genetics issues and management.
|
24643704 |
2014 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
MUTYH germline mutations cause an inherited polyposis, MUTYH-associated-polyposis, characterized by multiple adenomas and increased susceptibility to colorectal cancer.
|
23599153 |
2013 |
|
Multiple polyps
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although the literature describes mutY homolog gene (MYH) polyposis as an autosomal recessive syndrome, we report a case of colorectal cancer in a carrier of MYH polyposis.
|
23625202 |
2013 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
MUTYH gene expression and alternative splicing in controls and polyposis patients.
|
22473953 |
2012 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is to examine the frequency of MYH mutations in colorectal cancer and/or attenuated polyposis in Moroccan patients.
|
22266422 |
2012 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biallelic germline mutations of the MUTYH gene are known to cause multiple colorectal adenomas including polyposis and cancer, mostly due to G:C➝T:A transversions in proto-oncogenes or tumor suppressor genes.
|
22641385 |
2012 |
|
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 |
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer.
|
20663686 |
2011 |
|
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 |
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 |
Moreover, 11 MUTYH gene mutations have been identified in 7 patients without a dominant family history of polyposis.
|
19279422 |
2009 |
|
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 |