Gene: MUTYH ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
MUTYH
0.030 GeneticVariation BEFREE The missense G382D mutation, already described in north and south European populations was found in the MYH gene at the homozygous state in the fourth patient with moderate AP. 18425378

2008
dbSNP: rs36053993
rs36053993
MUTYH
0.030 GeneticVariation BEFREE Among patients with multiple adenomas, biallelic MYH mutations account for approximately 30% of APC mutation negative cases and two thirds of these carry mutations other than the "common" Y165C and G382D variants. 17219385

2007
dbSNP: rs36053993
rs36053993
MUTYH
0.030 GeneticVariation BEFREE The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches. 12628248

2003
dbSNP: rs1057517457
rs1057517457
MUTYH
0.020 GeneticVariation BEFREE The c.34G>T was present in 39.7% of MAP adenomas versus 1.6% of FAP adenomas (P < 0.01). 26056087

2015
dbSNP: rs1057517457
rs1057517457
MUTYH
0.020 GeneticVariation BEFREE KRAS mutations were identified in 24% MUTYH-associated-polyposis vs 15% classical/attenuated familial polyposis adenomas; mutated MUTYH-associated-polyposis adenomas exhibited only c.34G>T transversions in codon 12, an alteration typically associated with oxidative DNA damage, or mutations in codon 13; neither of these mutations was found in classical/attenuated familial polyposis adenomas (P<0.001). 23599153

2013
dbSNP: rs34612342
rs34612342
MUTYH
0.020 GeneticVariation BEFREE Among patients with multiple adenomas, biallelic MYH mutations account for approximately 30% of APC mutation negative cases and two thirds of these carry mutations other than the "common" Y165C and G382D variants. 17219385

2007
dbSNP: rs34612342
rs34612342
MUTYH
0.020 GeneticVariation BEFREE The lack of complementation of the hMYH variants for MutY, and the reduced activity of the Y82C and G253D E.coli enzymes, provide additional circumstantial evidence that the somatic mutations in APC, and the occurrence of FAP in Family N, are due to a reduced ability of the Y165C and G382D hMYH enzymes to recognize and repair OG:A mismatches. 12628248

2003
dbSNP: rs730881833
rs730881833
MUTYH
0.010 GeneticVariation BEFREE G272E may be one of the mutations specific to patients with adenomatous polyposis in East Asia. 18422726

2008