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Protocol Number:
03-C-0148
- Title:
Genetic Mutation Analysis in a VHL Population
- Number:
03-C-0148
- Summary:
This study will obtain a tissue sample from individuals who participated in the National Cancer Institute protocol 99-C-0053 (von Hippel-Lindau disease Genetic Epidemiology) whose von Hippel Lindau (VHL) genotype is unknown. The objectives of the epidemiology study were to examine the association between the clinical problems in von-Hippel Lindau disease and environmental and genetic factors. Of the 546 participants in the 99-C-0053 protocol, genotype information is not available for 260.
To obtain complete information on all study subjects, the 260 people whose genotype is unknown will be contacted and asked to send a blood or buccal (cheek cell) sample for DNA testing. Study participants who do not have VHL symptoms may choose to learn or not to learn their test results. Those who want to know the results may be asked to meet with a genetic counselor or genetic doctor to discuss issues to consider before deciding to have the genetic testing.
- Sponsoring Institute:
-
National Cancer Institute (NCI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
Subjects enrolled in Genetic Epidemiology study 99-C-0053 whose VHL genotypes is not known.
EXCLUSION CRITERIA:
Subjects enrolled in Genetic Epidemiology study 99-C-0053 whose VHL genotype is known.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Counseling
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DNA
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Recontact
- Recruitment Keyword(s):
-
None
- Condition(s):
-
VHL
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Cancer Institute
- Contact(s):
-
NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office Phone: 1-888-NCI-1937 Fax: Not Listed Electronic Address: ncicssc@mail.nih.gov
- Citation(s):
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Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317-20. PMID: 8493574
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Biesecker BB, Garber JE. Testing and counseling adults for heritable cancer risk. J Natl Cancer Inst Monogr. 1995;(17):115-8. PMID: 8573443
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Biesecker BB, Brody LC. Genetic susceptibility testing for breast and ovarian cancer: a progress report. J Am Med Womens Assoc. 1997 Winter;52(1):22-7. Review. PMID: 9033168
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008
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