|
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 |
|
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 |
|
rs11203289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One start codon variant of unknown clinical significance (VUS) (c.3G>A, p.Met1Ile) and one missense VUS (c.631A>C, p.Met211Leu) was found in VHL in a patient with RCC-onset at twenty-eight years of age but without other manifestations or family history of von Hippel-Lindau (VHL).
|
31034483 |
2019 |
|
rs1131690838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One start codon variant of unknown clinical significance (VUS) (c.3G>A, p.Met1Ile) and one missense VUS (c.631A>C, p.Met211Leu) was found in VHL in a patient with RCC-onset at twenty-eight years of age but without other manifestations or family history of von Hippel-Lindau (VHL).
|
31034483 |
2019 |
|
rs1131691061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One start codon variant of unknown clinical significance (VUS) (c.3G>A, p.Met1Ile) and one missense VUS (c.631A>C, p.Met211Leu) was found in VHL in a patient with RCC-onset at twenty-eight years of age but without other manifestations or family history of von Hippel-Lindau (VHL).
|
31034483 |
2019 |
|
rs11556218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, methylenetetrahydrofolate reductase (rs1801133 and rs1801131), vitamin D receptor (TaqI and Fok1), and interleukin-16 (rs4778889 and rs11556218) gene polymorphisms were not associated with the risk of renal cell carcinoma.
|
31242814 |
2019 |
|
rs1312268347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is possible that a novel mutation of SDHA (c.2T>C: p.M1T) can provide evidence of GIST associated with RCC as well.
|
31579262 |
2019 |
|
rs1417080
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a 2-stage case-control study was performed to evaluate the association between 2 tagging SNPs (rs1417080 and rs7859384) and RCC susceptibility.
|
31038847 |
2019 |
|
rs1442780982
|
|
|
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 |
|
rs1449964136
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One start codon variant of unknown clinical significance (VUS) (c.3G>A, p.Met1Ile) and one missense VUS (c.631A>C, p.Met211Leu) was found in VHL in a patient with RCC-onset at twenty-eight years of age but without other manifestations or family history of von Hippel-Lindau (VHL).
|
31034483 |
2019 |
|
rs1801131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, methylenetetrahydrofolate reductase (rs1801133 and rs1801131), vitamin D receptor (TaqI and Fok1), and interleukin-16 (rs4778889 and rs11556218) gene polymorphisms were not associated with the risk of renal cell carcinoma.
|
31242814 |
2019 |
|
rs2606736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study indicated that ATG7 polymorphisms (rs2606736 and rs6442260) have a protective role for ccRCC risk.
|
30827239 |
2019 |
|
rs2736100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There is no significant association between rs2736100/rs2736098 SNPs and RCC risk. rs2736100-CC/CA and rs2736098-AA variants serve as independent predictors of a poor prognosis in RCC.
|
30738744 |
2019 |
|
rs2981582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphism rs2981582 in FGFR2 is correlated to PFS and OS in patients with mccRCC treated with sunitinib.
|
30527746 |
2019 |
|
rs4778889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, methylenetetrahydrofolate reductase (rs1801133 and rs1801131), vitamin D receptor (TaqI and Fok1), and interleukin-16 (rs4778889 and rs11556218) gene polymorphisms were not associated with the risk of renal cell carcinoma.
|
31242814 |
2019 |
|
rs4787951
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphism rs4787951 in IL-4R contributes to the increased risk of renal cell carcinoma in a Chinese population.
|
30472377 |
2019 |
|
rs4787951
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study revealed that IL-4R rs4787951T>C was associated with susceptibility of RCC and could be a predictive biomarker for RCC risk.
|
30472377 |
2019 |
|
rs6442260
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study indicated that ATG7 polymorphisms (rs2606736 and rs6442260) have a protective role for ccRCC risk.
|
30827239 |
2019 |
|
rs6540341
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, there was no significant association between rs6540341 and RCC survival.
|
31598157 |
2019 |
|
rs6641352
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hence, rs6641352</span> in <i>MAGE-A11</i> may contribute to the genetic susceptibility and prognosis for RCC and act as a biomarker for RCC occurrence and prognosis.
|
31598157 |
2019 |
|
rs6721961
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 50 patients who had metastatic RCC and received cytoreductive nephrectomy, we performed Nrf2 gene mutation analysis using targeted next-generation sequencing, as well as investigating a specific single nucleotide polymorphism (SNP; rs6721961) in the Nrf2 promoter region and Nrf2 protein expression.
|
31752777 |
2019 |
|
rs750380279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is possible that a novel mutation of SDHA (c.2T>C: p.M1T) can provide evidence of GIST associated with RCC as well.
|
31579262 |
2019 |
|
rs756787389
|
|
|
0.010 |
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 |
|
rs7859384
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study suggests that rs7859384 of lncARSR was associated with RCC susceptibility and may act as a prognostic biomarker for patients with RCC.
|
31038847 |
2019 |
|
rs879255658
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One start codon variant of unknown clinical significance (VUS) (c.3G>A, p.Met1Ile) and one missense VUS (c.631A>C, p.Met211Leu) was found in VHL in a patient with RCC-onset at twenty-eight years of age but without other manifestations or family history of von Hippel-Lindau (VHL).
|
31034483 |
2019 |