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Genetic Study of Patients With Von Hippel-Lindau Syndrome
This study is ongoing, but not recruiting participants.
First Received: November 1, 1999   Last Updated: February 6, 2009   History of Changes
Sponsored by: National Cancer Institute (NCI)
Information provided by: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT00003866
  Purpose

RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer.

PURPOSE: Genetic study to determine how reproductive, hormone, and genetic factors, and smoking and diet, may affect the development of cancer in patients who have von Hippel-Lindau syndrome.


Condition Intervention
Kidney Cancer
Genetic: polymorphic microsatellite marker analysis

Study Type: Observational
Official Title: Von Hippel-Lindau Disease Genetic Epidemiology Study

Resource links provided by NLM:


Further study details as provided by National Cancer Institute (NCI):

Estimated Enrollment: 600
Study Start Date: October 1999
Detailed Description:

OBJECTIVES: I. Examine the association between cigarette smoking and expression of renal cysts and renal cancers in patients with von Hippel-Lindau (VHL) germline mutations. II. Investigate the association between reproductive and hormonal factors and the development of renal cysts, renal tumors, and hemangioblastomas of the central nervous system (CNS). III. Assess whether the expression of kidney and CNS tumors is modified by the glutathione-S-transferase M1 genotype. IV. Assess the role of diet in VHL disease, in particular, whether the expression of kidney tumors is associated with protein intake.

OUTLINE: Patients are stratified by the presence of mutations in the von Hippel-Lindau gene (yes vs no). Patients participate in a telephone interview which collects information about demographic characteristics, tobacco and alcohol use, reproductive history and hormonal factors, physical activity, use of medications and herbal remedies, occupational history, personal medical history, and family history. Patients then complete a food frequency questionnaire and provide cheek cells (with a mouth rinse). Cheek cells are analyzed for genetic polymorphisms, such as the polymorphic glutathione-S-transferase M1 gene. Patients do not receive the results of this genetic testing and the results do not influence the type or duration of treatment.

PROJECTED ACCRUAL: A total of 600 patients will be accrued for this study.

  Eligibility

Ages Eligible for Study:   13 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

DISEASE CHARACTERISTICS: Prior enrollment in NCI-89-C-0086 required Diagnosis of von Hippel-Lindau (VHL) disease OR At risk of VHL disease (carry a mutation in the VHL gene but no clinical disease) OR Family member of patient with VHL disease (no genetic mutation in VHL gene)

PATIENT CHARACTERISTICS: Age: 13 and over Performance status: Not specified Hematopoietic: Not specified Hepatic: Not specified Renal: Not specified

PRIOR CONCURRENT THERAPY: Not specified

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00003866

Locations
United States, Maryland
Genetic Epidemiology Branch
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Investigators
Principal Investigator: Margaret A. Tucker, MD NCI - Genetic Epidemiology Branch
  More Information

Additional Information:
No publications provided

Study ID Numbers: CDR0000067030, NCI-99-C-0053
Study First Received: November 1, 1999
Last Updated: February 6, 2009
ClinicalTrials.gov Identifier: NCT00003866     History of Changes
Health Authority: United States: Federal Government

Keywords provided by National Cancer Institute (NCI):
renal cell carcinoma

Study placed in the following topic categories:
Urinary Tract Neoplasm
Kidney Cancer
Angiomatosis
Von Hippel-Lindau Syndrome
Vascular Diseases
Urogenital Neoplasms
Urologic Neoplasms
Carcinoma
Renal Cancer
Von Hippel-Lindau Disease
Urologic Diseases
Kidney Neoplasms
Carcinoma, Renal Cell
Kidney Diseases
Adenocarcinoma
Neoplasms, Glandular and Epithelial
Neurocutaneous Syndromes

Additional relevant MeSH terms:
Angiomatosis
Neoplasms by Histologic Type
Nervous System Diseases
Vascular Diseases
Urogenital Neoplasms
Urologic Neoplasms
Carcinoma
Neoplasms
Neoplasms by Site
Von Hippel-Lindau Disease
Urologic Diseases
Kidney Neoplasms
Carcinoma, Renal Cell
Cardiovascular Diseases
Kidney Diseases
Adenocarcinoma
Neurocutaneous Syndromes
Neoplasms, Glandular and Epithelial

ClinicalTrials.gov processed this record on July 02, 2009