Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
Investigation of the causes of genetic defects relating to hereditary urologic malignancies
 will be undertaken. These rare disorders result from inherited or newly arising mutations in
 genes involved in the development and function of different organ systems. As specific
 disease syndromes are recognized and the responsible genes identified, mutations in
 individual families can be identified. Correlation of mutation sites with clinical
 information will help determine how specific gene segments encode important functional
 protein domains.

 Families with urologic malignant disorders of known or suspected genetic basis will be
 enrolled. Genetic linkage studies will include all available family members, while gene
 sequence analysis will be performed on affected individuals. Unaffected family members or
 unrelated normal individuals will serve as controls. The family members will be identified by
 the proband or proband's parent when the initial pedigree is taken. Subjects considered by
 the investigators to be appropriate for linkage studies will be invited to participate by the
 local genetics provider or by the investigators, who will then connect these members to their
 own local providers for enrollment.

 In our studies of inherited urologic malignant disorders, there may be individuals from renal
 cancer families who do not undergo clinical evaluation for the presence of an inherited
 urologic malignant disorder at the National Institutes of Health because of their health
 problems, geographical location, or personal preference. Even though these individuals do not
 undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the
 National Institutes of Health, they may have rare diseases that are extremely important to
 study. Therefore, we intend to collect blood samples for genetic studies from these
 individuals to facilitate linkage analysis and disease gene identification. Samples will be
 collected either by the individual's physician and sent to NIH, or will be collected by NIH
 physicians at either the individual's off-site location or at the NIH.
Investigation of the causes of genetic defects relating to hereditary urologic malignancies
 will be undertaken. These rare disorders result from inherited or newly arising mutations in
 genes involved in the development and function of different organ systems. As specific
 disease syndromes are recognized and the responsible genes identified, mutations in
 individual families can be identified. Correlation of mutation sites with clinical
 information will help determine how specific gene segments encode important functional
 protein domains.

 Families with urologic malignant disorders of known or suspected genetic basis will be
 enrolled. Genetic linkage studies will include all available family members, while gene
 sequence analysis will be performed on affected individuals. Unaffected family members or
 unrelated normal individuals will serve as controls. The family members will be identified by
 the proband or proband's parent when the initial pedigree is taken. Subjects considered by
 the investigators to be appropriate for linkage studies will be invited to participate by the
 local genetics provider or by the investigators, who will then connect these members to their
 own local providers for enrollment.

 In our studies of inherited urologic malignant disorders, there may be individuals from renal
 cancer families who do not undergo clinical evaluation for the presence of an inherited
 urologic malignant disorder at the National Institutes of Health because of their health
 problems, geographical location, or personal preference. Even though these individuals do not
 undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the
 National Institutes of Health, they may have rare diseases that are extremely important to
 study. Therefore, we intend to collect blood samples for genetic studies from these
 individuals to facilitate linkage analysis and disease gene identification. Samples will be
 collected either by the individual's physician and sent to NIH, or will be collected by NIH
 physicians at either the individual's off-site location or at the NIH.
Category I: Individuals and family members with established diagnoses of hereditary
 malignancies where the disease gene is known, specifically von Hippel Lindau or HPRC.

 Category II: Individuals and family members with malignant disorders where the disease gene
 is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear
 cell renal carcinoma, renal oncocytoma or chromophobe renal carcinoma or Birt Hogg Dube
 syndrome.

 Category III: Malignant diseases of suspected, but not proven genetic etiology, including
 families with more than one individual affected by the same or related cancers.