Study of Hereditary Renal and Other Familial Syndromes

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In the United States there are approximately 36,000 new cases of kidney cancer each year, and 12,000 individuals die from the disease. Kidney cancer is an international disease. New syndromes are being recognized and characterization of the associated symptoms as well as identification of the genes involved in the disease are important to develop appropriate therapies. Continuation of this project is of great importance because, at the moment, there are families with kidney cancer that do not have any of their genetic changes known. Therefore we need to study these families morphologically and genetically, as well as try to identify new proteins useful as tumor markers. The specific aims of this study are to: 1) Define the types and morphological characteristics of new renal syndromes; 2) Identify the genes and molecular changes responsible for these new syndromes; 3) Identify genotype/ phenotype correlation; and 4) Study the associated lesions such as uterine and other smooth muscle tumors, skin, lung and ovarian tumors, and investigate if they share similar genetic changes. Continuation of this research is essential; first, because these tumors can only be recognized by their morphology and secondly, because we lack both markers for early detection and good forms of therapy.