|
rs67311347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10<sup>-10</sup>), 3p22.1 (rs67311347, P=2.5 × 10<sup>-8</sup>), 3q26.2 (rs10936602, P=8.8 × 10<sup>-9</sup>), 8p21.3 (rs2241261, P=5.8 × 10<sup>-9</sup>), 10q24.33-q25.1 (rs11813268, P=3.9 × 10<sup>-8</sup>), 11q22.3 (rs74911261, P=2.1 × 10<sup>-10</sup>) and 14q24.2 (rs4903064, P=2.2 × 10<sup>-24</sup>).
|
28598434 |
2017 |
|
rs132770
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We hypothesized that the Ku70 A-31G polymorphism (rs132770) was associated with the risk of renal cell carcinoma (RCC).
|
22455395 |
2012 |
|
rs132770
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 92 patients with RCC and 580 cancer-free controls, the frequency matched by age and sex, the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter A-31G (rs132770), and intron 3 (rs132774) polymorphisms with RCC risk were investigated in a Taiwanese population.
|
22993329 |
2012 |
|
rs132770
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in "other cancers".Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms.
|
25569644 |
2015 |
|
rs2267437
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We hypothesized that the Ku70 C-1310G polymorphism (rs2267437) was associated with risk of renal cell carcinoma (RCC).
|
22593040 |
2012 |
|
rs2267437
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in "other cancers".Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms.
|
25569644 |
2015 |
|
rs2267437
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 92 patients with RCC and 580 cancer-free controls, the frequency matched by age and sex, the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter A-31G (rs132770), and intron 3 (rs132774) polymorphisms with RCC risk were investigated in a Taiwanese population.
|
22993329 |
2012 |
|
rs5751129
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significant increase in risks of overall cancers, breast cancer, renal cell carcinoma and hepatocellular carcinoma, and it could increase the cancer risk in Asian population; the rs5751129 polymorphism could increase the cancer risk in overall cancers; the rs132770 polymorphism was associated with the increased renal cell carcinoma risk; furthermore, the rs132793 polymorphism could decrease breast cancer risk and increase risks in "other cancers".Overall, the results provided evidences that the single nucleotide polymorphisms in XRCC6 promoter region might play different roles in various cancers, indicating different cancers have different tumorigenesis mechanisms.
|
25569644 |
2015 |
|
rs5751129
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 92 patients with RCC and 580 cancer-free controls, the frequency matched by age and sex, the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter A-31G (rs132770), and intron 3 (rs132774) polymorphisms with RCC risk were investigated in a Taiwanese population.
|
22993329 |
2012 |
|
rs132774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 92 patients with RCC and 580 cancer-free controls, the frequency matched by age and sex, the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter A-31G (rs132770), and intron 3 (rs132774) polymorphisms with RCC risk were investigated in a Taiwanese population.
|
22993329 |
2012 |
|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The OR of RCC for the combined effect of high urinary 8-OHdG levels and high urinary total arsenic concentration in individuals with a XRCC1(Arg194Trp) Arg/Trp+Trp/Trp genotype was higher than in patients with an Arg/Arg genotype, which was evident in a dose response manner.
|
28733204 |
2017 |
|
rs25487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the frequency of 399Gln variant at XRCC1 Arg399Gln was significantly higher in RCC cases than in controls (OR=2.83, 95%CI=1.24-6.49, P=0.01).
|
16510122 |
2006 |
|
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 |
|
rs397516440
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs5030820
|
|
T |
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 |
|
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 |
|
rs1642742
|
|
|
0.010 |
GeneticVariation |
BEFREE |
rs1642742 and rs1642743 are candidate biomarkers for poor OS in m-ccRCC patients receiving first-line VEGFR-TKI.
|
29503246 |
2018 |
|
rs1642743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
rs1642742 and rs1642743 are candidate biomarkers for poor OS in m-ccRCC patients receiving first-line VEGFR-TKI.
|
29503246 |
2018 |
|
rs5030809
|
|
|
0.010 |
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 |
|
rs5030821
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, our studies revealed detailed information describing how VHL-R167Q contributes to tumorigenesis and identified a potential targeted therapy for ccRCC and other VHL-related disease in patients carrying VHL-R167Q or similar missense mutations.
|
24755468 |
2014 |
|
rs776399733
|
|
|
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 |