|
rs36053993
|
|
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 |
|
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 |
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 |
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 |
|
rs369410616
|
|
Colorectal Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
In this work, we evaluated associations between the repair efficiency of oxidative DNA lesions and single-nucleotide polymorphisms of BER genes: the 194Trp/Arg and the 399Arg/Gln XRCC1, the 326Ser/Cys OGG1 and the 324Gln/His MUTYH and CRC occurrence in a Polish population.
|
23618615 |
2013 |
|
rs369410616
|
|
Colorectal Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, the distributions of OGG1 Ser326Cys and XRCC1 Arg399Gln were not associated with a colorectal cancer risk.
|
18823566 |
2008 |
|
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 |
|
rs587782041
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results suggest that biallelic MUTYH or OGG1 pathogenic mutations are rare in Japanese patients with early-onset CRC; however, the p.Arg19∗ and p.Arg109Trp MUTYH variants are associated with functional impairments.
|
24799981 |
2014 |
|
rs754155145
|
|
Colorectal Carcinoma
|
|
0.010 |
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 |
|
rs763693540
|
|
Colorectal Carcinoma
|
|
0.010 |
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 |
|
rs765123255
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results suggest that biallelic MUTYH or OGG1 pathogenic mutations are rare in Japanese patients with early-onset CRC; however, the p.Arg19∗ and p.Arg109Trp MUTYH variants are associated with functional impairments.
|
24799981 |
2014 |
|
rs771683103
|
|
Colorectal Carcinoma
|
|
0.010 |
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 |
|
rs863224699
|
|
Colorectal Carcinoma
|
|
0.010 |
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 |