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Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00001814
First Posted: December 10, 2002
Last Update Posted: March 4, 2008
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
National Institutes of Health Clinical Center (CC)
  Purpose

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.


Condition
Neoplastic Syndromes, Hereditary Urologic Neoplasms

Study Type: Observational
Official Title: Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 600
Study Start Date: April 1999
Estimated Study Completion Date: January 2001
Detailed Description:

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.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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.

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001814


Locations
United States, Maryland
National Cancer Institute (NCI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Cancer Institute (NCI)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00001814     History of Changes
Other Study ID Numbers: 990101
99-C-0101
First Submitted: November 3, 1999
First Posted: December 10, 2002
Last Update Posted: March 4, 2008
Last Verified: February 2000

Keywords provided by National Institutes of Health Clinical Center (CC):
Hereditary
Kidney
MET
Oncocytoma
VHL

Additional relevant MeSH terms:
Urologic Neoplasms
Neoplasms
Neoplastic Syndromes, Hereditary
Urogenital Neoplasms
Neoplasms by Site
Genetic Diseases, Inborn