|
rs36053993
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
MAP patients carrying the p.Glu480del variant presented with a younger age at polyp diagnosis as compared to patients carrying p.Gly396Asp and p.Tyr179Cys variants.
|
27829682 |
2017 |
|
rs36053993
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs36053993
|
|
|
0.770 |
GeneticVariation |
BEFREE |
In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP.
|
23605219 |
2014 |
|
rs36053993
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
|
24953332 |
2014 |
|
rs36053993
|
|
|
0.770 |
GeneticVariation |
BEFREE |
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 |
0.770 |
CausalMutation |
CLINVAR |
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
|
24278394 |
2013 |
|
rs36053993
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Altogether c.933+3A>C and the two common Caucasian mutations p.Tyr179Cys and p.Gly396Asp represent about 60% of MUTYH alterations in MAP patients from North-Eastern Italy, suggesting the opportunity to perform targeted molecular screening for these variants in the diagnostic setting.
|
22865608 |
2013 |
|
rs36053993
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Three individuals were biallelic MUTYH variant carriers (p.Y179C/p.G382D: typical MAP; p.Y179C/p.Q338H: atypical MAP with late onset and lower polyp burden; p.G382D/p.Q338H: inflammatory bowel disease), and four subjects were monoallelic mutation carriers.
|
22469480 |
2012 |
|
rs36053993
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
|
22703879 |
2012 |
|
rs36053993
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Cell lines that stably express the MUTYH-associated polyposis variants G382D and Y165C have significantly lower OG:A repair versus wild-type MEFs and MEFs expressing human wild-type MUTYH.
|
22926731 |
2012 |
|
rs36053993
|
|
|
0.770 |
GeneticVariation |
BEFREE |
The aim of this study was to assess the frequency of the germline MUTYH mutations p.Y179C and p.G396D in Brazilian patients with MAP and other hereditary colorectal cancer (CRC) phenotypes, as well as in sporadic CRC cases.
|
21424714 |
2011 |
|
rs36053993
|
|
T |
0.770 |
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 |
0.770 |
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
|
|
|
0.770 |
GeneticVariation |
BEFREE |
The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC.
|
15987719 |
2005 |