Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders
National Cancer Institute (NCI)
Summary
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.
Description
Background: * Disorders under investigation are: Autosomal dominant inherited urologic malignant disorders including: von Hippel-Lindau (VHL), hereditary papillary renal cancer (HPRC), Birt Hogg Dube (BHD) and hereditary leiomyomatosis and renal cell carcinoma (HLRCC) as well as familial renal cancer. * Studies have led to the identification and characterization of the VHL, HPRC, FLCN and HLRCC genes. * The genetic etiology of the most common type of inherited kidney cancer, familial renal cancer (FRC), remains to be determined. Objectives: * To characterize the natural and clinical histori…
Eligibility
- Age range
- 2+ years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: Participants must be greater than or equal to 2 years of age. All participants and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Criteria for Acceptance into this Study (i.e., Disease Categories): Disease Category I Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland