|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
These observations provide a rationale for further evaluation of the efficacy of the immune checkpoint blockade in MUTYH-driven CRC.
|
31377904 |
2019 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
MutYH (MYH) and colorectal cancer.
|
16042573 |
2005 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The MUTYH gene has also been related to hereditary CRC.
|
20924129 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.
|
18294051 |
2007 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We have developed and validated for the diagnosis of inherited colorectal cancer (CRC) a massive parallel sequencing strategy based on: (i) fast capture of exonic and intronic sequences from ten genes involved in Mendelian forms of CRC (MLH1, MSH2, MSH6, PMS2, APC, MUTYH, STK11, SMAD4, BMPR1A and PTEN); (ii) sequencing on MiSeq and NextSeq 500 Illumina platforms; (iii) a bioinformatic pipeline that includes BWA-Picard-GATK (Broad Institute) and CASAVA (Illumina) in parallel for mapping and variant calling, Alamut Batch (Interactive BioSoftware) for annotation, CANOES for CNV detection and finally, chimeric reads analysis for the detection of other types of structural variants (SVs).
|
29967336 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
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 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The paramount role of MUTYH in guarding the genome is well established in the etiology of a colorectal cancer predisposition syndrome involving variants of MUTYH, referred to as MUTYH-associated polyposis (MAP).
|
28087410 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
In 2007 it is well established that mutations in DNA repair genes (MLH1, MSH2, MSH6, MYH) and Wnt pathway signal transduction inhibitors (APC) underlie a significant percentage of hereditary CRC susceptibility.
|
17920898 |
2007 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
|
17031395 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings revealed that polymorphisms of DNA repair genes that include NUDT1, ERCC2, and MUTYH are associated with CRC in patients with Lynch syndrome in Chinese population.
|
29664240 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The importance of preventing mutations associated with 8-oxoguanine is shown by a direct association between defects in the DNA glycosylase MUTYH and colorectal cancer.
|
17581577 |
2007 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorphisms (SNPs) could help to explain some cases with multiple adenomas who phenocopied FAP or MAP, but had no pathogenic APC or MUTYH variant.
|
24801760 |
2015 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AXIN2 and MUTYH genes were screened for germline mutations by PCR and direct sequencing in 39 unrelated patients with multiple adenomas or colorectal cancer without evidence of APC mutation nor mismatch repair defect.
|
16941501 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that biallelic MUTYH or OGG1 pathogenic mutations are rare in Japanese patients with early-onset CRC; however, the p.Arg19∗ and p.Arg109Trp MUTYH variants are associated with functional impairments.
|
24799981 |
2014 |
|
Colorectal Carcinoma
|
0.500 |
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 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This article reviews the role of defective base excision repair, and MUTYH specifically, in colorectal cancer etiology and discusses the consequences of MUTYH gene defects, with particular emphasis on clinical relevance to colorectal polyposis, colorectal cancer risk, and appraising the risk of extra-colonic malignancy.
|
19793568 |
2009 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to characterize the functional activity of mutant-MUTYH and single-nucleotide polymorphism (SNP)-MUTYH proteins involving familial colorectal cancer.
|
18534194 |
2008 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Germline and somatic mutations in BER genes, such as MutY Homolog (MUTYH/MYH) and DNA-directed polymerase (POLB), are associated with increased risk of colorectal cancer.
|
25030372 |
2014 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma.
|
24518836 |
2014 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.
|
20640893 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The risk of colorectal cancer among relatives carrying a monoallelic MUTYH mutation was also studied.
|
22538434 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MYH-associated polyposis is a recessively inherited syndrome of colorectal cancer predisposition attributed to biallelic germline mutations in the base excision repair gene MYH.
|
27145315 |
2016 |
|
Colorectal Carcinoma
|
0.500 |
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 |