|
rs1057517457
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
KRAS exon 2 analysis was performed on 2239 CRC and 2.2% harbored the c.34G>T transversion.
|
26056087 |
2015 |
|
rs1374712964
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A rare inherited nonsynonymous variant in OGG1 (Gly308Glu), the functional partner of MUTYH, was over-represented in case patients with advanced CRC compared with population-based control subjects (n = 36 of 2142 case patients vs n = 15 of 2175 control subjects in the training phase, P = 1.8×10(-3); and n = 22 of 1005 case patients vs n = 8 of 1389 control subjects in the validation phase, P = 4.8×10(-4); P = 1.4×10(-5) combined; odds ratio = 2.92, 95% confidence interval = 1.80 to 4.74).
|
23852950 |
2013 |
|
rs143353451
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
This result raises the possibility that OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.
|
15449173 |
2004 |
|
rs3219489
|
|
Colorectal Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The 326Ser/Cys OGG1 and the 324Gln/His as well as the 324His/His MUTYH genotypes were found to be associated with an increased CRC risk, while no association was found for the XRCC1 gene polymorphisms.
|
23618615 |
2013 |
|
rs3219489
|
|
Colorectal Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The clinical significance of p.Q338H should be evaluated in future case-control studies because compound heterozygotes for pathogenic mutations and p.Q338H may be at increased risk for mild polyposis or CRC.
|
22469480 |
2012 |
|
rs3219489
|
|
Colorectal Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
Investigation of quantitative allelic imbalance at SNP rs3219489 of MUTYH showed that CRC cases with C allele dominance (minor type corresponding to His) were more frequently detected with G:C➝T:A transversions than in those with G allele dominance (major type corresponding to Gln).
|
22641385 |
2012 |
|
rs3219489
|
|
Colorectal Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
The MUTYH Gln324His is strongly associated with colorectal cancer susceptibility in never smoking history, whereas the APEX1 Asp148Glu genotype constitutes an increased risk of colorectal cancer when accompanied by smoking exposure.
|
18823566 |
2008 |
|
rs3219489
|
|
Colorectal Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
However, the variant CG+GG genotype of MUTYH rs3219489 was associated with a decreased risk of CRC (HR = 0.49, 95% CI = 0.26-0.91) compared with the homozygous CC wild-type counterparts.
|
29664240 |
2018 |
|
rs3219489
|
|
Colorectal Carcinoma
|
|
0.060 |
GeneticVariation
|
BEFREE |
In this study we investigated four MUTYH SNPs, IVS1+11C > T, IVS6+35G > A, IVS10-2A > G, and 972G > C (Gln324His), for an association with increased CRC risk in a population-based series of 685 CRC patients and 778 control subjects from Kyushu, Japan.
|
18271935 |
2008 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D.
|
15661655 |
2005 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC.
|
18022921 |
2007 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs34612342
|
|
Colorectal Carcinoma
|
|
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 |
|
rs36053993
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, the two hotspot germline mutations MutYH Y165C and G382D seem to be infrequent in sporadic CRC.
|
18022921 |
2007 |
|
rs36053993
|
|
Colorectal Carcinoma
|
|
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 |
|
rs36053993
|
|
Colorectal Carcinoma
|
|
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 |