Symbol
| RCC3
|
Location
| 8q24.13
|
Name
|
hereditary renal cell carcinoma |
Corresponding gene
|
RNF139
|
Main clinical features
|
predisposition to renal cancer and non-medullary thyroid cancer in carriers of a balanced t(3;8)(p14.2;q24.1) |
Genetic determination
| chromosomal |
Prevalence
| one family
|
Related entries
| RCC1, VHL, CRCC
|
Function/system disorder
| kidney and urinary tract |
Type
| malignancy
|
Name
| E3-ubiquitin ligase, interacting with VHL in a common pathway
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
 
| translocation
|  
| translocation t(3;8)(p14.2;q24.1) in one family, disrupting TRC8(RNF139)
| |
Remark(s)
|
the involvement of the FHIT gene and the fragile site FRA3B at 3p14.2 in the genetics of RCC was not confirmed |