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Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer

Recruitingn/aAges 2 Years - anyAllNational Cancer Institute (NCI)
NCT00033137 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer. BHD is a rare inherited condition characterized by papules, or bumps-benign tumors involving hair follicles-on the head and neck. People with BHD are at increased risk of developing kidney cancer. Scientists have identified the chromosome (strand of genetic material in the cell nucleus) that contains the BHD gene and the region of the gene on the chromosome. This study will try to learn more about: * The characteristics and type of kidney tumors associated with BHD * The risk of kidney cancer in people with BHD * Whether more than one gene causes BHD * The genetic mutations (changes) responsible for BHD Individuals with known or suspected Birt Hogg-Dube syndrome, and their family members, may be eligible for this study. Candidates will be screened with

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📋 Eligibility rules (as published)
* INCLUSION CRITERIA: Individuals that meet one or more of the following criteria: -Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as: --Individuals with at least one histologically confirmed fibrofolliculomas; or --Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer; or --Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer; or --Individuals with a known germline FLCN gene mutation OR -Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma. OR * Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD. -Participants must be \>= 2 years of age. * For children less than 18 years of age, parental permission or legal guardian consent will be obtained. EXCLUSION CRITERIA: None.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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