rs36053993
|
|
T |
0.700 |
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 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Colorectal cancer in a monoallelic MYH mutation carrier.
|
23625202 |
2013 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.
|
23805267 |
2013 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.
|
23108399 |
2013 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MutYH mutation carriers have increased breast cancer risk.
|
21952991 |
2012 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
|
22158503 |
2012 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
|
22744763 |
2012 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MUTYH gene expression and alternative splicing in controls and polyposis patients.
|
22473953 |
2012 |
rs36053993
|
|
T |
0.700 |
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 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
|
20418187 |
2010 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.
|
20848659 |
2010 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis.
|
21178863 |
2010 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.
|
21063410 |
2010 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Biallelic MYH germline mutations as cause of Muir-Torre syndrome.
|
19998059 |
2010 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
|
19953527 |
2010 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
|
19032956 |
2009 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.
|
19732775 |
2009 |
rs36053993
|
|
T |
0.700 |
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 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
rs36053993
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.
|
11818965 |
2002 |
rs121908382
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121908383
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|