|
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 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition to the well-established role of the DNA glycosylase gene MUTYH, biallelic mutations in which predispose to MUTYH-associated polyposis, a second DNA glycosylase gene, NTHL1, has recently been associated with adenomatous polyposis and a high colorectal cancer risk.
|
29105096 |
2018 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Biallelic inherited mutations in the oxidative DNA damage repair gene MUTYH predispose to colorectal adenomas and colorectal carcinoma (CRC) with high penetrance.
|
23852950 |
2013 |
|
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 |
The joint effect of tobacco exposure and the MUTYH Gln324His showed a significant association with colorectal cancer risk in non-smokers (adjusted OR 4.08, 95%CI 1.22-13.58, p = 0.022) and the APEX1 Asp148Glu was significantly increased in smokers (adjusted OR 5.02, 95%CI 1.80-13.99, p = 0.002).
|
18823566 |
2008 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.
|
16492921 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, biallelic germline mutations of MYH are unlikely to cause colorectal cancer in patients sharing clinical features with hereditary nonpolyposis colorectal cancer families without mismatch repair defect and therefore cannot fill the molecular diagnostic gap in this subgroup of Bethesda-positive patients.
|
16645203 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two MUTYH mutations, G396D and Y179C, were studied in 1,413 individuals, with MUTYH sequence analysis in 46 cases with CRC in a sibling or adenoma.
|
22371070 |
2012 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MUTYH p.Y179C mutation was associated with an increased risk of CRC among Egyptian patients rather than MUTYH p.G396D mutation.
|
27631816 |
2017 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that biallelic MYH mutations confer susceptibility to colorectal cancer but are unlikely to account for more than 3% of early-onset colorectal cancer.
|
14991577 |
2004 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer.
|
16943222 |
2006 |
|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to analyse the incidence of germ-line MYH mutations in selected Portuguese families recorded in a hereditary tumour registry and to evaluate the risk of colorectal cancer in this syndrome.
|
15932553 |
2005 |