RESTRICTION FRAGMENT LENGTH POLYMORPHISMS IN NORMAL AND NEOPLASTIC TISSUES

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The major goal of the research project is to identify and characterize genes involved in the pathogenesis of kidney cancer and small cell carcinoma of the lung. Our major accomplishments this year are: 1.The identification of another germline missense VHL mutation (547 T to C) associated with frequent pheochromocytomas without renal cell carcinoma. 2.The demonstration that VHL gene mutations that produce certain tumors in Western VHL families produced the same tumor spectrum in Japanese VHL families. 3.The detection of the VHL protein, pVHL/vhilin, in Cos 7 cells transfected with the VHL cDNA. The detection of the VHL protein in the nucleus of renal carcinoma cells. 4.The development of a biological assay that demonstrates the growth suppressive effects of the VHL gene in renal carcinoma cells. 5.The identification of a large Canadian family with papillary renal cell carcinoma.