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
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