Symbol
| HPRC
|
Location
| 7q31.2
|
Name
|
hereditary papillary renal carcinoma |
Corresponding gene
|
MET
|
Main clinical features
|
predisposition to multiple, bilateral papillary renal tumors, type 1 histology |
Genetic determination
| autosomal dominant |
Prevalence
| rare, most cases are sporadic
|
Related entries
| HLRCC
|
Function/system disorder
| kidney and urinary tract |
| neoplasia |
Type
| malignancy
|
Name
| MET tyrosine kinase receptor for hepatocyte growth factor/scatter factor
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| over-expression
| germinal activating missense mutations in the tyrosine kinase domain of the MET proto-oncogene
|  
| aneuploidy
|  
| in tumors, acquired trisomy/tetrasomy most often including chr 7 and 17 and loss of chr Y
| |
Remark(s)
|
constitutive activation of the MET receptor function |