DICER1 Natural History Study

The DICER1 Natural History Study is an observational study of individuals with PPB and/or other DICER1-related tumors and their families. The study seeks to define the tumor types and risks associated with the DICER1 syndrome. Investigators also seek to understand why some individuals with a change in DICER1 develop cancer while others remain healthy.

To carry out this study, the Clinical Genetics Branch is partnering with the DCEG Cancer Survivorship Research Unit and leading research groups, including:

International Pleuropulmonary Blastoma Registry (also see their Facebook page)
International Ovarian and Testicular Stromal Tumor Registry
Department of Pathology at Children's National Medical Center
St. Louis Children's Hospital, part of Washington University in St. Louis

For more information, contact Douglas Stewart, M.D.

Cancer Risk in Non-Proband DICER1-Variant Carriers

First report on site-specific risk for tumors or cancer in individuals with a germline DICER1 pathogenic variant.

Information for Participants

All individuals with PPB or related tumors and conditions and their family members are encouraged to participate. Visit the participant recruitment website.

Phone: 800-518-8474 to speak with our research team
Email: NCIFamilyStudyReferrals@nih.gov

Read the study summary on ClinicalTrials.gov.