Genetic Basis of Human Kidney Cancer

Basic Sciences

Investigators

Linked publications & trials

Abstract

The major goal of this research project is to identify and characterize genes involved in the pathogenesis of human kidney cancer. Our major accomplishments this year are: 1. We have identified the gene responsible for the Birt-Hogg-Dube' syndrome (BHD). BHD is an inherited disorder that predisposes to benign tumors of the skin, carcinomas of the kidney, cysts of the lung, and pneumothorax. The significance of the identification of the BHD gene is that diagnosis of the condition will be improved by the availability of a DNA test. Germline mutations in the BHD gene may be responsible for some cases of inherited renal carcinoma. The second accomplishment is the development of a mouse model for von Hippel-Lindau disease.This mouse model was developed using the technique of conditional inactivation of the VHL gene. Affected mice developed multiple angiomas of the liver, impaired spermatogenesis, and widespread new blood vessel formation. The availability of this new mouse model provides an opportunity to evaluate novel therapies for von Hippel-Lindau disease. We are negotiating with DeCode Genetics, Rejkjavik, Iceland about working together to identify gene(s) responsible for common, sporadic renal carcinoma.