Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders

Conditions Phase Intervention Type


Ages Eligible for Study
24 months to 100 years
Genders Eligible for Study


Urologic Malignant Disorders, Birt Hogg Dube, Von Hippel Lindau, and Hereditary Papillary Renal Cancer/Renal Cell Acarcinoma


National Cancer Institute (NCI)

Inclusion Criteria

- Subject Category C:

Category C will include biologic relatives and spouses who enroll in this study primarily
for genetic linkage studies. These individuals will contribute a blood sample for DNA
analysis only. No imaging diagnostic testing will be performed on individuals from this

Exclusion Criteria

Persons unable to give informed consent.

Detailed Description

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.

Contacts and Locations

Please refer to this study by its identifier: NCT00001238

Overall Contact Backup

W. Marston Linehan, M.D.
(240) 760-6245


  • National Institutes of Health Clinical Center, 9000 Rockville Pike
    Bethesda, Maryland United States

    Status: Recruiting

    Contact info For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
    (888) NCI-1937