|
rs34612342
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Biallelic mutations in the MUTYH gene predispose individuals to MUTYH-associated polyposis (MAP), and the most commonly observed mutation in some MAP populations is Y165C.
|
30698731 |
2019 |
|
rs34612342
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.
|
25820570 |
2015 |
|
rs34612342
|
|
|
0.800 |
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 |
|
rs34612342
|
|
C |
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 |
|
rs34612342
|
|
|
0.800 |
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 |
|
rs34612342
|
|
|
0.800 |
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 |
|
rs34612342
|
|
|
0.800 |
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 |
|
rs34612342
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The present study was carried out among the Moroccan population, using molecular epidemiology methods, to estimate the prevalence of homozygote or compound heterozygote genotype conferring MAP due to three mutations reported as recurrent in MAP: c.494A>G (Y165C), c.1145G>A (G382D) and c.1186_1187insGG (p.Glu396fsX42).
|
20939750 |
2011 |
|
rs34612342
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two common mutations, p.Y179C and p.G396D, are present in approximately 70-80% of MAP in European families with identified MUTYH germline mutations.
|
21424714 |
2011 |
|
rs34612342
|
|
|
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 |
|
rs34612342
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with a homozygous G396D mutation or compound heterozygous G396D/Y179C mutations presented later with MAP and had a significantly lower hazard of developing CRC than patients with a homozygous Y179C mutation (P < .001).
|
19032956 |
2009 |
|
rs34612342
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer.
|
18534194 |
2008 |
|
rs34612342
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.
|
16616356 |
2006 |
|
rs34612342
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).
|
16140997 |
2005 |
|
rs34612342
|
|
|
0.800 |
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 |