|
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 |
|
rs1010980331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, in three families we found three different variants in BAP1, one of which was a novel non-segregating missense variant (c.1502G>A, p.Ser501Asn) in a family with two brothers affected with RCC.
|
31034483 |
2019 |
|
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC.
|
17634539 |
2007 |
|
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Taken together, this is the first study to show that a variant genotype of p53 Arg(72)Pro or MDM2 SNP309 may modify the arsenic-related RCC risk even in a non-obvious arsenic exposure area.
|
21982800 |
2011 |
|
rs10434
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our meta-analysis confirmed the fact that rs699947, rs3025039, and rs10434 polymorphisms were significantly relevant to elevated RCC risk.
|
28356760 |
2017 |
|
rs1048798213
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PBRM1 p.L641V was detected in the plasma sample of the ccRCC patient with an allele frequency of 0.2%.
|
30986100 |
2019 |
|
rs104893751
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104893824
|
|
|
0.020 |
GeneticVariation |
BEFREE |
From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function.
|
12510195 |
2003 |
|
rs104893824
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Another mutation, T547C, which causes Tyr112 to His, has been seen at the same position and has been associated with VHL type 2A (pheochromocytoma, but no renal cell carcinoma) in two families with a total of 22 affected individuals [Chen F, Slife L, Kishida T, Mulvihill J, Tisherman SE, Zbar B, 1996: J Med Genet 33:716-717].
|
10533030 |
1999 |
|
rs104893829
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The VHL p.P81S mutation is most likely a low-penetrant pathogenic variant predisposing to RCC development.
|
28503092 |
2017 |
|
rs104893829
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cell renal cell carcinoma from individuals exposed occupationally to trichloroethylene (TCE) is not known.
|
23990666 |
2013 |
|
rs1048943
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data indicate that the CYP1A1 MspI polymorphism significantly increased RCC risk, while the Ile462Val polymorphism was not associated with RCC.
|
25630554 |
2015 |
|
rs1049334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that the two SNPs (Cav-1 rs1049334</span> and ROCK1 rs35996865) and genotypes with a combination of 2-4 risk alleles were associated with the risk of ccRCC.
|
26066055 |
2015 |
|
rs1049380
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001).
|
23911636 |
2014 |
|
rs1049380
|
|
|
0.020 |
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 |
|
rs1052133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 572 RCC patients and 575 cancer-free controls frequency matched by age and sex, we genotyped the functional polymorphism Ser326Cys (rs1052133) and assessed its associations with risk of RCC in a Chinese population.
|
21166493 |
2011 |
|
rs1055259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A SNP-rs1055259 was found to be significantly associated with the susceptibility of ccRCC (OR = 0.59, 95% CI = 0.41-0.92; P = .019).
|
29569387 |
2018 |
|
rs1057520001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC.
|
17634539 |
2007 |
|
rs1060502375
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Targeted resequencing of CDKN2B in individuals (n = 82) with features of inherited RCC then revealed three candidate CDKN2B missense mutations (p.Pro40Thr, p.Ala23Glu, and p.Asp86Asn).
|
25873077 |
2015 |
|
rs1064794272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Previous patients with the N131K or N131T mutation in pVHL developed VHLD type 2B with RCC or VHLD type 1 without PHE, respectively.
|
17001110 |
2006 |
|
rs10771279
|
|
|
0.010 |
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 |
|
rs10936599
|
|
|
0.020 |
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 |
|
rs10936599
|
|
|
0.020 |
GeneticVariation |
BEFREE |
As a sensitivity analysis, we excluded two telomere length variants in linkage disequilibrium (R<sup>2</sup>>0.5) with GWAS-identified RCC risk variants (rs10936599 and rs9420907) from the telomere length GRS; despite this exclusion, a statistically significant association between the GRS and RCC risk persisted (OR=1.73, 95% CI=1.36-2.21, p<0.0001).
|
28797570 |
2017 |