Spots Global Cancer Trial Database for Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
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Trial Identification
Brief Title: Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
Official Title: Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma
Study ID: NCT01353300
Study Description
Brief Summary: RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may also help doctors identify patients who are at risk for cancer. PURPOSE: This research study studies gene mutations in samples from young patients with pleuropulmonary blastoma syndrome at risk for developing cancer.
Detailed Description: OBJECTIVES: * To determine if DICER1 mutations contribute to tumor pathogenesis in cystic nephromas and cystic partially differentiated nephroblastomas outside of families with pleuropulmonary blastoma (PPB) syndrome. OUTLINE: Archived DNA samples are analyzed for DICER1 mutation by qPCR and directly sequenced using BigDye Terminator chemistry. Results are then compared against the single nucleotide polymorphism (SNP) database.
Eligibility
Minimum Age:
Eligible Ages: CHILD, ADULT, OLDER_ADULT
Sex: ALL
Healthy Volunteers: No
Locations
Contact Details
Name: Dana A. Hill, MD
Affiliation: Children's National Research Institute
Role: PRINCIPAL_INVESTIGATOR
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