Gene: MUTYH ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34612342
rs34612342
MUTYH
0.800 GeneticVariation BEFREE The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D. 15661655

2005
dbSNP: rs34612342
rs34612342
MUTYH
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
dbSNP: rs36053993
rs36053993
MUTYH
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
dbSNP: rs36053993
rs36053993
MUTYH
0.800 GeneticVariation BEFREE The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D. 15661655

2005
dbSNP: rs34612342
rs34612342
MUTYH
0.800 GeneticVariation BEFREE We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers. 15523092

2004
dbSNP: rs34612342
rs34612342
MUTYH
0.800 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166

2004
dbSNP: rs36053993
rs36053993
MUTYH
0.800 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166

2004
dbSNP: rs36053993
rs36053993
MUTYH
0.800 GeneticVariation BEFREE We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers. 15523092

2004
dbSNP: rs34612342
rs34612342
MUTYH
0.800 GeneticVariation BEFREE Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote. 12393807

2002
dbSNP: rs36053993
rs36053993
MUTYH
T 0.800 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763

2012
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Frequent mutation in North African patients with MUTYH-associated polyposis. 21443744

2011
dbSNP: rs529008617
rs529008617
MUTYH
A 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
dbSNP: rs529008617
rs529008617
MUTYH
A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs529008617
rs529008617
MUTYH
A 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
dbSNP: rs587778536
rs587778536
MUTYH
A 0.700 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs587778536
rs587778536
MUTYH
A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs587780078
rs587780078
MUTYH
TCC 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs587780088
rs587780088
MUTYH
A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs587780088
rs587780088
MUTYH
A 0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs587780088
rs587780088
MUTYH
A 0.700 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs587782885
rs587782885
MUTYH
A 0.700 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs587782885
rs587782885
MUTYH
A 0.700 GeneticVariation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009
dbSNP: rs587782885
rs587782885
MUTYH
A 0.700 GeneticVariation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs587783057
rs587783057
MUTYH
A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009