|
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
|
16922728 |
2006 |
|
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
|
14632188 |
2003 |
|
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China.
|
16307661 |
2005 |
|
rs121908388
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
|
26861065 |
2016 |
|
rs12268840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of EAC (OR 15.5, 95% CI 5.8-42) than expected under an additive model, consistent with biological interaction (S = 3.3, 95% CI 1.1-10).
|
18386788 |
2008 |
|
rs12269324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
|
rs12917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
|
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No associations with EAC or EGJAC were observed with XPD (rs13181).
|
18386788 |
2008 |
|
rs139429793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC.
|
24077944 |
2014 |
|
rs1462159134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC.
|
24077944 |
2014 |
|
rs1501299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5'-untranslated region), PPARgamma (H447H), and GHRL (M72L)], effect sizes were modest and none of the associations was significant after correcting for multiple comparisons.
|
18398047 |
2008 |
|
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our review identified GSTP1(Ile105Val) as a possible risk factor for BE and EAC in Caucasian males.
|
19222528 |
2009 |
|
rs2274223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians.
|
23222411 |
2013 |
|
rs2279744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in a multivariate analysis, patients with EAC carrying the heterozygous MDM2 (rs2279744) T/G genotype had significantly improved DFS compared with patients carrying the wild-type genotype (adjusted hazard ratio (AHR), 0.63; 95% confidence interval (CI) [0.45-0.88]).
|
20922573 |
2011 |
|
rs2305764
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA from 886 Caucasian participants (198 non-reflux controls, 305 RE, 254 BE, 129 EAC) was collected for the determination of the Myo9B gene polymorphism (rs2305764).
|
22954106 |
2012 |
|
rs2308321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Potential biological interaction was assessed through the synergy index S. Each MGMT SNP conferred increased risks of EAC but not EGJAC; strongest associations were found for the 2 variant MGMT alleles rs12268840 and I143V (p = 0.005 and p < 0.001, respectively).
|
18386788 |
2008 |
|
rs2308327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
|
rs25487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q).
|
18386788 |
2008 |
|
rs2701108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show that rs3072 at GDF7 and rs2701108 at TBX5 are also associated with EAC and conclude that both loci confer disease risk also at later stages of the BE/EAC sequence.
|
26783083 |
2016 |
|
rs3072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show that rs3072 at GDF7 and rs2701108 at TBX5 are also associated with EAC and conclude that both loci confer disease risk also at later stages of the BE/EAC sequence.
|
26783083 |
2016 |
|
rs377767360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC.
|
24077944 |
2014 |
|
rs3784262
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, rs3784262 at ALDH1A2 was highly significantly associated with BE, but showed no association with EAC.
|
26783083 |
2016 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found that the MTHFR A1298C polymorphism might influence risk ofESCC and EAC in the overall studies.
|
23679298 |
2013 |
|
rs5030625
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with EAC harboring the homozygous CDH1 (rs5030625) GA/GA genotype had a significantly reduced survival as compared with patients carrying the wild-type genotype AHR 4.0, 95% CI [1.4-11].
|
20922573 |
2011 |
|
rs536105592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found no CYLD variants but identified an FABP12 variant (rs536105592 G>A) in the patients with both MUHH and MFT.
|
30809827 |
2019 |