Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome

National Institutes of Health Clinical Center (CC)

Status: Completed

Conditions: Von Hippel-lindau Syndrome; Kidney Cancer

Treatments: Genetic: mutation analysis

Study type: Observational

Funder types: NIH

Identifiers

NCT00075348

030148

03-C-0148

CDR0000302478

Details and patient eligibility

About

RATIONALE: The identification of gene mutations in individuals who have or are at risk for von Hippel-Lindau syndrome may allow doctors to better determine the genetic processes involved in the development of cancer.

PURPOSE: This genetic study is finding gene mutations in participants with von Hippel-Lindau syndrome or who are at risk for developing von Hippel-Lindau syndrome.

Full description

OBJECTIVES:

• Obtain laboratory identification and confirmation of research results for gene mutations in participants previously enrolled in NCI-99-C-0053 who have von Hippel-Lindau (VHL) syndrome or who are at risk for VHL syndrome.
• Determine genotype status in these participants.

OUTLINE: Participants submit a blood or buccal sample for genetic mutation analysis. Participants may receive genetic counseling and/or the results of genetic testing, if desired.

PROJECTED ACCRUAL: A maximum of 260 participants will be accrued for this study.

Enrollment: 260 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

DISEASE CHARACTERISTICS:

• Prior enrollment in the von Hippel-Lindau (VHL) Syndrome Epidemiology Study NCI-99-C-0053

• Meets 1 of the following criteria:

  • Diagnosis of VHL syndrome
  • At risk of VHL syndrome
  • Family member of patient with VHL syndrome

• VHL syndrome genotype is not known

PATIENT CHARACTERISTICS:

Age

• Adult

Performance status

• Not specified

Life expectancy

• Not specified

Hematopoietic

• Not specified

Hepatic

• Not specified

Renal

• Not specified

PRIOR CONCURRENT THERAPY:

Biologic therapy

• Not specified

Chemotherapy

• Not specified

Endocrine therapy

• Not specified

Radiotherapy

• Not specified

Surgery

• Not specified