Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma.
|
26650189 |
2016 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical spectrum of SDH, BAP1, and MITF is still being defined, although these appear to be associated with a lower incidence of RCC.
|
31326218 |
2019 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
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 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, 7/9 (78%) renal cell carcinomas exhibiting subnuclear clearing and linear nuclear array (6 of which showed high World Health Organization/International Society of Urological Pathology nucleolar grade) demonstrated TFE3 translocation, an association that was statistically significant when compared with renal cell carcinomas without MITF aberrations (P=0.009).
|
28840857 |
2018 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, an association of the MITF mutation with coexisting melanoma and renal cell carcinoma was also shown.
|
24290354 |
2015 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Xp11 rearrangement in renal cell carcinoma (RCC) typically involves gene fusion to the gene encoding transcription factor E3 (TFE3), a member of the microphthalmia-associated transcription factor family on chromosome Xp11.2.
|
30908700 |
2019 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, SUMOylation of MITF modulates renal tumors secondary to melanoma, Similarly, SUMOylation of tumor suppressor gene VHL regulates the occurrence of renal cell carcinoma in VHL syndrome.
|
30707172 |
2019 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We therefore proposed that MITF might have a role in conferring a genetic predisposition to co-occurring melanoma and RCC.
|
22012259 |
2011 |
Renal Cell Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Quantification of MITF mRNA expression might be clinically useful to predict metastasis and survival of patients with RCC.
|
19496784 |
2009 |
Renal Cell Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Moreover, since this is the second MITF/TFE transcription factor that is involved in RCC development, our findings point towards a concept in which this bHLH-LZ subfamily may play a critical role in the regulation of (aberrant) renal cellular growth.
|
12837690 |
2003 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A case-control study on melanoma patients who coincidentally were affected by renal cell carcinoma (RCC) has revealed an elevated risk for mutation carriers to be affected by one or both of these malignancies, suggesting a possible role for MITF p.E318K in renal carcinogenesis.
|
26999813 |
2016 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Herein, we identify a case of MITF translocation RCC with the novel PRCC-MITF gene fusion by RNA sequencing.
|
29148086 |
2018 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
New familial types of RCC are continuously discovered, vis-à-vis recent characterization of BAP1 associated RCC and MITF associated cancer syndrome.
|
30116909 |
2018 |
Renal Cell Carcinoma
|
0.500 |
GeneticVariation
|
disease |
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 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Overall, Mi-E318K carriers had a higher than fivefold increased risk of developing melanoma, RCC or both cancers.
|
22012259 |
2011 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|