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Home > "G" Clinical Trials Conditions > Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples  Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
For Condition: Neoplastic Syndromes, Hereditary,Urologic Neoplasms
Status: Completed
Sponsor(s): National Cancer Institute (NCI) ,
Synopsis: 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.
Details: 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:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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.
Total Enrollment: 600
Location and Contact Information:
National Cancer Institute (NCI)
Bethesda, Maryland, 20892
United States
Additional Information:
Study ID Numbers: 990101; 99-C-0101
Study Start Date: April 29, 1999
Record last reviewed: February 1, 2000
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001814
Other Urologic Neoplasms Studies:
1. A Phase 2 Trial of ALIMTA (pemetrexed) Plus Gemcitabine in Locally Advanced or Metastatic Transitional cell Carcinoma of the Urothelium
2. A Phase 2 Trial of ALIMTA (pemetrexed) in Locally Advanced or Metastatic Recurrent Transitional Cell Carcinoma of the Urothelium
3. Safety and Efficacy of S-8184 in Second Line Treatment of Locally Advanced, Metastatic, or Recurrent Transitional Cell Carcinoma of the Urothelium
4. Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
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Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
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