|
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 |
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 |
Biallelic germline mutations in MYH were identified in 9 of the attenuated polyposis and in one of the classic polyposis patients.
|
15932553 |
2005 |
|
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 |
Six patients with multiple adenomas and eight patients with polyposis had biallelic germline MYH variants.
|
12606733 |
2003 |
|
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 |
These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.
|
16207212 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the proportion of cases with an attenuated polyposis phenotype was higher (p = 0.0008) among patients negative for APC and MYH mutations than among carriers of APC or biallelic MYH mutations.
|
16134147 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine the frequency of MYH mutations in one large population of polyposis patients without APC mutation identified.
|
17122612 |
2006 |
|
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 |
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 |
Multiple rare alleles of MUTYH are associated with autosomal recessive MAP, while OGG1, NEIL1, NEIL2, NEIL3, NUDT1 and NTH1 do not contribute significantly to autosomal recessive polyposis.
|
18515411 |
2008 |
|
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 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 |
Biomarker
|
disease |
BEFREE |
The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients.
|
15366000 |
2004 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas.
|
15083190 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Colorectal cancer was significantly (p<0.007) more frequent in biallelic mutation carriers (71.4%) compared with that of monoallelic and MYH mutation-negative polyposis patients (0 and 13.8%, respectively).
|
16287072 |
2006 |
|
Multiple polyps
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three novel MYH variants, (c.270C>T) p.Y90Y, (c.1376C>A) p.A459D, and (c.1389G>C) p.T469T, were observed. p.A459D variant in exon 14 was identified in two patients from the polyposis series, once in homozygosity and once in compound heterozygosity with p.Y165C.
|
16134146 |
2005 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The most common hereditary cancer syndromes nurses are likely to encounter include hereditary nonpolyposis colon cancer or Lynch syndrome, familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH polyposis.
|
17476735 |
2007 |