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  4. HLRCC Repository Study

HLRCC Repository Study

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Lay Title: HLRCC Repository

Technical Title: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Data and Biospecimen Repository 

Disease Type: Patients with a diagnosis of HLRCC as a result of 1) a genetic alteration in the fumarate hydratase (FH) gene or 2) have clinical features and a family history of an alteration in the FH gene.

Basic information:
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.

The purpose of this study is to construct a biologic specimen bank for research purposes. Determining which additional factors contribute to the development of HLRCC manifestations, detecting biomarkers that may lead to earlier diagnosis, and learning more about the clinical outcomes with treatment strategies is the ultimate goal of the research. This biologic specimen bank will study the genetic and biological factors contributing to the development of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).

Research Procedures (not a complete list):
Patients with HLRCC can participate in our research to further our understanding of this condition. We will collect biospecimens, personal/family history, and clinical management on participants. This may include: 1) Intake questionnaire, 2) Medical records, 3) Archival or excess tissue, 4) Saliva sample, and 5) Blood Sample. Patients will not be required to come to UCLA. They can participate remotely as long as consent is obtained.

Eligibility Criteria (Not a complete list):

Inclusion Criteria:

  • Patients given with a diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Exclusion Criteria:

  • Under 18 years old
  • Unwilling or unable to provide informed consent

For More Detailed Information, Contact:

  • Brian Shuch, MD, Principal Investigator
  • Shirin Zavoshi, MD, (310) 794-9493
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