Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
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: rs36053993
rs36053993
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: rs36053993
rs36053993
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: rs36053993
rs36053993
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: rs36053993
rs36053993
0.800 GeneticVariation BEFREE Two rare variants (OGG1 c.137G>A; MUTYH c.1187G>A) and one common polymorphism (NUDT1 c.426C>T) were associated with CRC risk. 21355073

2011

dbSNP: rs36053993
rs36053993
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

dbSNP: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR 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: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

dbSNP: rs36053993
rs36053993
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: rs36053993
rs36053993
T 0.800 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: rs36053993
rs36053993
T 0.800 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009

dbSNP: rs36053993
rs36053993
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: rs36053993
rs36053993
0.800 GeneticVariation BEFREE Using Fisher's exact test and logistic regression, we compared the frequency of the known disease-causing MYH mutations Y165C, G382D and 466delE in 137 probands (117 cases with CRC and 20 cases diagnosed on the basis of adenomatous polyps only) from families with three or more CRCs but negative for mutations in the MMR genes and in 967 healthy controls with comparable ethnic backgrounds. 16774938

2006

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

2005

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

2002