Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome - Tabular View

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Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

This study is currently recruiting participants.

Study NCT00055627. Last updated on October 18, 2008. Information provided by National Cancer Institute (NCI)

This Tabular View shows the required WHO registration data elements as marked by ^†

Descriptive Information Fields

Brief Title ^†

Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

Official Title ^†

Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification Of The Disease Gene And Characterization of The Predisposition To Renal Cancer

Brief Summary

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).

Detailed Description

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 450 participants will be accrued for this study within 3 years.

Study Phase

Study Type ^†

Observational

Study Design ^†

Primary Outcome Measure ^†

Secondary Outcome Measure ^†

Condition ^†

Precancerous/Nonmalignant Condition

Intervention ^†

Procedure: DNA ploidy analysis
Procedure: cytogenetic analysis
Procedure: gene expression profiling
Procedure: genetic linkage analysis
Procedure: medical chart review
Procedure: mutation analysis

MEDLINE PMIDs

15937070, 16098467, 15741255, 15380513, 12511666, 14680318, 14634372, 12772087, 12525673

Links

Clinical trial summary from the National Cancer Institute's PDQ® database This link exits the ClinicalTrials.gov site

Recruitment Information Fields

Recruitment Status ^†

Recruiting

Enrollment ^†

450

Start Date ^†

December 2002

Completion Date

Eligibility Criteria ^†

DISEASE CHARACTERISTICS:

Patients with known or suspected hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome and their family members
- Spouses also eligible
One or more family members must have 1 of the following:
- Cutaneous leiomyoma and kidney cancer
- Cutaneous leiomyoma and uterine leiomyoma
- Multiple cutaneous leiomyoma
- Kidney cancer and uterine leiomyomata
- Renal tumor histology consistent with HLRCC, including but not limited to collecting duct and/or type II papillary carcinoma

PATIENT CHARACTERISTICS:

Age

Any age

Performance status

Not specified

Life expectancy

Not specified

Hematopoietic

Not specified

Hepatic

Not specified

Renal

Not specified

Other

Negative pregnancy test (if undergoing imaging tests)

PRIOR CONCURRENT THERAPY:

Biologic therapy

Not specified

Chemotherapy

Not specified

Endocrine therapy

Not specified

Radiotherapy

Concurrent standard-care radiotherapy allowed

Surgery

Concurrent standard-care surgery allowed

Gender

Both

Ages

Accepts Healthy Volunteers

Contacts ^††

Location Countries ^†

United States

Administrative Information Fields

NCT ID ^†

NCT00055627

Organization ID

CDR0000269913

Secondary IDs ^††

NCI-03-C-0066

Study Sponsor ^†

NCI - Center for Cancer Research-Medical Oncology

Collaborators ^††

National Cancer Institute (NCI)

Investigators ^†

Study Chair:

William M. Linehan, MD

NCI - Urologic Oncology Branch

Information Provided By

National Cancer Institute (NCI)

Verification Date

March 2008

First Received Date ^†

March 6, 2003

Last Updated Date

October 18, 2008

^† Required WHO trial registration data element.
^†† WHO trial registration data element that is required only if it exists.