Genetic Mutation Analysis In A VHL Population

Purpose:

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.

Study summary:

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.

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

Study is Available At:

Original ID:

030148

NCT ID:

NCT00075348

Secondary ID:

03-C-0148

Study Acronym:

Brief Title:

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

Official Title:

Genetic Mutation Analysis In A VHL Population

ClinicalTrials.gov Link:

http://clinicaltrials.gov/show/NCT00075348

Overall Status:

Completed

Study Phase:

N/A

Genders:

Both

Minimum Age:

18 Years

Maximum Age:

N/A

Study Source:

National Institutes of Health Clinical Center (CC)

Oversight Authority:

United States: Federal Government

Reasons Why Stopped:

Study Type:

Observational

Study Design:

N/A

Number of Arms:

0

Number of Groups:

0

Total Enrollment:

260

Enrollment Type:

Anticipated

Data Source: ClinicalTrials.gov

Date Processed: November 18, 2019

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