|
rs1397145500
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs147608663
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs28940297
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.
|
11986208 |
2002 |
|
rs372947534
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs587782274
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs78683075
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs876658517
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs149617956
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer.
|
23167872 |
2013 |
|
rs149617956
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Finally, we found the known E318K-substitution in MITF in a RCC-affected member of a family with multiple melanomas.No variants were detected in CDKN2B.
|
31034483 |
2019 |
|
rs149617956
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls.
|
22012259 |
2011 |
|
rs149617956
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The MITF p.E318K mutation does not appear to play a major role in sporadic RCC carcinogenesis, but is possibly restricted to a rare subpopulation of inherited RCC.
|
26999813 |
2016 |
|
rs149617956
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma.
|
26650189 |
2016 |
|
rs699947
|
|
|
0.040 |
GeneticVariation |
BEFREE |
And VEGF-rs699947 polymorphism was also identified an increased risk of renal cell carcinoma (RCC) in allelic, heterozygote, dominant, homozygote, and recessive models.
|
29942264 |
2018 |
|
rs699947
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The pooled OR indicated that rs699947 polymorphism was significantly associated with RCC risk in all genetic models.
|
28356760 |
2017 |
|
rs699947
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our meta-analysis suggested that there may be a relationship between the VEGF rs2010963, rs3025039 and rs699947 polymorphisms and RCC susceptibility.
|
28562357 |
2017 |
|
rs699947
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In summary, our study showed evidence that the VEGF rs699947 polymorphism was obviously associated with an increased risk of bladder cancer and renal cell carcinoma, particularly in Asian population, while no significant association was observed in overall urologic neoplasms.
|
30195633 |
2018 |
|
rs718314
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06).
|
26551148 |
2016 |
|
rs718314
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The 12p11.23 variant rs10771279, located 77 kb from the European-ancestry RCC marker rs718314, was associated with RCC risk in the GWAS (P = 1.2 × 10(-7)) but did not replicate (P = 0.99).
|
24220910 |
2014 |
|
rs718314
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A variant (rs718314) in the inositol 1,4,5-trisphosphate receptor, type 2 gene (ITPR2) was found to interact with the American/Western dietary pattern in relation to RCC risk (additive Pinteraction = 0.03).
|
25053674 |
2014 |
|
rs718314
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380.
|
22010048 |
2012 |
|
rs10069690
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This meta-analysis suggested that the TERT rs10069690 polymorphism may be a risk factor for cancer, especially breast cancer, ovarian cancer, lung cancer, thyroid cancer, and RCC.
|
31454181 |
2019 |
|
rs10069690
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Rs35073794, rs10936599 and rs10069690 were positively correlated with the age older than 55 (OR= 3.27, 95%CI= 1.08-9.93, <i>p</i>=0.031; OR= 1.56, 95%CI= 1.03-2.37, <i>p=</i> 0.034; OR= 4.94, 95%CI= 1.18-20.70, <i>p=</i> 0.022, respectively) with or without history of drinking(OR= 4.47, 95%CI= 0.99-20.25, <i>p=</i> 0.024<i>;</i> OR= 2.62, 95%CI= 1.13-6.08, <i>p=</i> 0.022<i>;</i> OR=2.44, 95%CI=1.03-5.78, <i>p</i>= 0.04, respectively) and clinical stage I/II RCC (OR=2.62, 95%CI=1.02-6.74, <i>p</i>= 0.045; OR= 2.23, 95%CI= 1.08-4.60, <i>p=</i> 0.028; OR= 1.63, 95%CI= 1.17-2.27, <i>p</i>= 0.014, respectively).
|
29100352 |
2017 |
|
rs10069690
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Rs2736100, rs7726159, rs2853677, rs13172201, and rs10069690 were not linked with RCC risk, and none of the polymorphisms was associated with RCC pathology.
|
26294352 |
2016 |
|
rs11549465
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These results suggest that HIF1A+1772C/T (rs11549465) polymorphism may have effects on RCC recurrence/progression and survival.
|
28476527 |
2017 |
|
rs11549465
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This meta-analysis was performed to assess the relationship between HIF-1α C1772T (rs11549465)/G1790A (rs11549467) gene polymorphism and RCC risk.
|
30539853 |
2018 |