|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The cohort consisted of 3,128 first- and second-degree relatives of the 233 MLH1-methylated CRC cases with no MMR or MUTYH gene mutations.
|
22144422 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, somatic alterations of MUTYH in sporadic CRC were rare, similar to other DNA repair genes.
|
22641385 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We consider 16 independent variants at 13 loci (MUTYH, MTHFR, SMAD7, and common variants tagging the loci 8q24, 8q23.3, 11q23.1, 14q22.2, 1q41, 20p12.3, 20q13.33, 3q26.2, 16q22.1, and 19q13.1) to have the most highly credible associations with colorectal cancer, with all variants except those in MUTYH and 19q13.1 reaching genome-wide statistical significance in at least one meta-analysis model.
|
23019048 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
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 |
|
Colorectal Carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
|
22744763 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic MUTYH mutation carriers with a family history of CRC, such as those identified from screening multiple-case CRC families, are at increased risk of colorectal, gastric, endometrial and possibly liver cancers.
|
21171015 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer.
|
20663686 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic germline MUTYH mutations were identified in 4 of 60 (6.6%) patients with a phenotype of hereditary colorectal cancer.
|
21424714 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MUTYH have been associated with increased colorectal cancer (CRC) risk while no association has been described for OGG1 or NUDT1.
|
21355073 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Frequent mutation in North African patients with MUTYH-associated polyposis.
|
21443744 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline MUTYH mutations in 2 patients were unlikely to contribute to the development of their CRCs.
|
21901162 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small.
|
21061173 |
2011 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MUTYH-associated polyposis (MAP) is a colorectal cancer predisposition syndrome that is caused by inherited biallelic mutations in the base excision repair (BER) gene, MUTYH.
|
20724227 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MUTYH-associated polyposis (MAP) is a colorectal cancer syndrome, due to biallelic mutations of MUTYH.
|
19953527 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The MUTYH gene has also been related to hereditary CRC.
|
20924129 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates a rare pathogenic MUTYH mutation that is possibly associated with a relatively severe MUTYH-associated polyposis phenotype, highlighted by early-onset colorectal cancer.
|
20628285 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In humans, MUTYH germline mutations are associated with a recessive form of familial adenomatous polyposis and colorectal cancer predisposition (MUTYH-associated polyposis, MAP).
|
20418187 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Leiden Open Variation Database of the MUTYH gene.
|
20725929 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analyses included completion of APC gene exon 16 sequencing, analysis for APC gene copy number variations (deletions or duplications), MUTYH gene sequencing, and microsatellite instability in CRC patients fulfilling "Bethesda" (laboratory investigation) criteria for Lynch syndrome.
|
21287799 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic and mono-allelic MUTYH variants and investigate age and sex influence on risk.
|
21063410 |
2010 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Importantly, six heterozygous MUTYH mutations were identified among non-polyposis families with breast and colorectal cancer.
|
20191381 |
2010 |
|
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 |
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |