We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.
One or more histologically proven or suspected renal carcinomas and/or cysts
Cerebellar, spinal, medullary or cerebral hemangioblastomas
Retinal angioma
Pancreatic neuro-endocrine carcinoma,micro cystadenoma and/or cysts
None
Individuals with known or suspected inherited urologic malignant disorders and their biologic family members with inherited urologic malignancies will be recruited primarily from the urology, oncology, and genetics communities worldwide
Cohort
Prospective
Not listed
Identify and describe as yet unknown or uncharacterized inherited urologic malignant disorders.
Collection of blood, tissue \& urine to address further scientific questions related to this protocol.
Determine the genetic etiology of hereditary urologic malignant disorders in which the gene variation is unknown, by linkage analysis, positional cloning and evaluation of candidate genes.
Collection of blood, tissue \& urine to address further scientific questions related to this protocol.
Correlate specific mutations and their associated protein domains with disease phenotypic expression based on parameters including presenting age, clinical manifestations, histopathology and rate of recurrence.
Collection of blood, tissue \& urine to address further scientific questions related to this protocol.
Characterize the natural and clinical histories of inherited urologic malignant disorders.
Collection of blood, tissue \& urine to address further scientific questions related to this protocol.
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