|
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
|
16922728 |
2006 |
|
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 |
|
rs121908389
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
|
14632188 |
2003 |
|
rs121908389
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908390
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
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 |
|
rs3784262
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, rs3784262 at ALDH1A2 was highly significantly associated with BE, but showed no association with EAC.
|
26783083 |
2016 |
|
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 |
|
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 |
|
rs6214
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A allele of SNP rs6214 in the IGF-I gene was associated with EAC, and with HNC in women.
|
24608110 |
2014 |
|
rs786201059
|
|
|
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 |
|
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 |
|
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 |
|
rs9257809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians.
|
23504527 |
2013 |
|
rs9936833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians.
|
23504527 |
2013 |
|
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 |
|
rs917997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data show a strong association of the IL-18RAP SNP rs917997 locus with BE and EAC and suggestive association of the Barrett's population with the IL-18-607 C/A promoter polymorphism.
|
22664470 |
2012 |
|
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 |
|
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 |
|
rs6898743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GH receptor SNP rs6898743 was associated with EAC (adjusted P = .0112).
|
20403354 |
2010 |
|
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our review identified GSTP1(Ile105Val) as a possible risk factor for BE and EAC in Caucasian males.
|
19222528 |
2009 |