Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE Given that these tumor features are associated with the response to immune checkpoint inhibitors, we administered nivolumab to a CRC patient who carried two inactive MUTYH alleles (p.Y179C and p.G396D) and previously experienced failure of chemotherapy. 31377904

2019

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE MUTYH p.Y179C mutation was associated with an increased risk of CRC among Egyptian patients rather than MUTYH p.G396D mutation. 27631816

2017

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. 24518836

2014

dbSNP: rs34612342
rs34612342
C 0.800 CausalMutation CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219

2014

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE Homozygote carriers of G396D had nonsignificantly elevated risk of CRC (OR = 11.0, 95% CI: 0.91-213.9, p = 0.06), and combined bi-allelic carriers of G396D and Y179C had increased risk, OR = 17.4, 95% CI = (1.9-316.7, p = 0.009). 22371070

2012

dbSNP: rs34612342
rs34612342
C 0.800 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. 21424714

2011

dbSNP: rs34612342
rs34612342
C 0.800 CausalMutation CLINVAR Leiden Open Variation Database of the MUTYH gene. 20725929

2010

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression). 19032956

2009

dbSNP: rs34612342
rs34612342
C 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE The association of the p.Tyr165Cys mutation with fCRC indicates that this variant represents a susceptibility factor in a defined subgroup of CRC patients with a positive family history. 18503156

2008

dbSNP: rs34612342
rs34612342
0.800 GeneticVariation BEFREE In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC. 18022921

2007

dbSNP: rs34612342
rs34612342
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
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: rs34612342
rs34612342
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
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: rs34612342
rs34612342
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