|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.
|
27829682 |
2017 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
|
23361220 |
2014 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
|
24444654 |
2014 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history.
|
23361220 |
2014 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
MUTYH-associated colorectal cancer and adenomatous polyposis.
|
23605219 |
2014 |
|
Colorectal Carcinoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
The first mutations in the MYH gene reported in Moroccan colon cancer patients.
|
22266422 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells.
|
22926731 |
2012 |
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
|
0.800 |
CausalMutation
|
CLINVAR |
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer.
|
21171015 |
2011 |
|
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 |
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 |
Leiden Open Variation Database of the MUTYH gene.
|
20725929 |
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 |
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 |
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
|
20418187 |
2010 |
|
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 |
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 |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
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 |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
|
MUTYH-Associate Polyposis
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
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 |
CausalMutation
|
CLINVAR |
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
|
17489848 |
2007 |