Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
| Status: | Archived |
|---|---|
| Conditions: | Cancer, Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 7/1/2011 |
Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification Of The Disease Gene And Characterization of The Predisposition To Renal Cancer
RATIONALE: Genetic studies may help in understanding the genetic processes involved in the
development of some types of cancer and may help doctors identify patients who are at risk
for cancer.
PURPOSE: This clinical trial is studying cancer risk and gene identification in patients and
families with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).
OBJECTIVES:
- Determine the types and characteristics (e.g., patterns of growth) of renal cancer in
patients and families with hereditary leiomyomatosis and renal cell cancer (HLRCC)
syndrome.
- Determine the risk of renal cancer in patients and their families with HLRCC.
- Determine the incidence of germline fumarate hydratase (fumerase) mutations in this
population.
- Determine whether other genes are responsible for HLRCC.
- Correlate genotype and phenotype in this population.
- Determine the clinical manifestations of HLRCC.
OUTLINE: Detailed family and medical histories are obtained from participants. Participants
then undergo one or more of the following: physical examination, blood draw, imaging
studies, and karyotypic analysis.
Blood or buccal smears are examined by linkage or DNA analysis and other genetic studies.
Participants may receive an explanation of study findings, appropriate counseling about
their own status, and recommendations for follow-up/treatment. Participants may receive DNA
results from analysis of their fumarate hydratase gene.
Some participants with indeterminate renal lesions are followed every 3-36 months, depending
on the characteristics (e.g., size and/or growth) of the lesion.
PROJECTED ACCRUAL: A total of 90-120 participants will be accrued for this study within 3
years.
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National Cancer Institute (NCI) The National Cancer Institute (NCI) is part of the National Institutes...
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