Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer

Background: * Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare autosomal dominantly inherited disorder which confers susceptibility to develop cutaneous and uterine leiomyomas and renal cell carcinoma. * HLRCC is caused by mutations in the Krebs cycle enzyme, fumarate hydratase localized on chromosome 1q42.3-q43. Objectives: * Define the risk of developing renal cancer, cutaneous leiomyoma and uterine leiomyoma in this hereditary cancer syndrome * Define the types and characteristics (including patterns of growth) of renal cancer associated with HLRCC * Determine the incidence and characteristics of HLRCC-associated fumarate hydratase gene mutations * Determine genotype/phenotype correlations * Determine if other genes cause HLRCC Eligibility: * Individuals suspected or known to have phenotype or genotype suggestive of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome (HLRCC), such as individuals with: * Cutaneous leiomyoma and kidney cancer * Cutaneous leiomyoma and uterine leiomyoma * Multiple cutaneous leiomyoma * Kidney cancer and uterine leiomyomata * Renal tumor histology consistent with HLRCC including, but not limited to: Collecting Duct and/or Papillary, Type II * A relative (related by blood) of an individual with a confirmed or suspected diagnosis of HLRCC Design: * These rare biological families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors. * Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations. * We will determine if there is a relationship between mutation and disease phenotype.