Bethesda, Maryland 20892

  • Kidney Cancer


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.

Study summary:

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.


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



Primary Contact:

Principal Investigator
Margaret A. Tucker, MD
NCI - Genetic Epidemiology Branch

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

There is no listed contact information for this specific location.

Site Status: N/A

Data Source:

Date Processed: June 24, 2021

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