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GENATLAS PHENOTYPE
last update : 10/07/2006
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
Gene product
Name MET tyrosine kinase receptor for hepatocyte growth factor/scatter factor
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
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