|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
|
19953527 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
|
21063410 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.Y165C/p.G382D) showed that adenoma development was slow after initial diagnosis of a single colorectal carcinoma at the age of 44, but then the annual number of new adenomas increased substantially in the patient's early fifties.
|
19672709 |
2010 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression).
|
19032956 |
2009 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
19793053 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression).
|
19032956 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
|
19836313 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.
|
19836313 |
2009 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
|
19394335 |
2009 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
|
18515411 |
2008 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC.
|
18022921 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
|
17489848 |
2007 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
|
18091433 |
2007 |
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Using Fisher's exact test and logistic regression, we compared the frequency of the known disease-causing MYH mutations Y165C, G382D and 466delE in 137 probands (117 cases with CRC and 20 cases diagnosed on the basis of adenomatous polyps only) from families with three or more CRCs but negative for mutations in the MMR genes and in 967 healthy controls with comparable ethnic backgrounds.
|
16774938 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
|
16287072 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
|
16557584 |
2006 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
|
16941501 |
2006 |