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 |
rs104893751
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853236
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137853247
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1397145500
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs147608663
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1555212014
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs372947534
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs397516440
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs5030820
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs555607708
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776825
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587782274
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs754729248
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs758175953
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs78683075
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs864321679
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs876658517
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs879255678
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |