Research Highlights

We have recruited more than 688 patients and families since the study opened in November 2010.

In June 2019, Dr. Douglas Stewart, the principal investigator of the DICER1/PPB Study was awarded NIH Scientific Tenure and promoted to senior investigator. His work on DICER1 played a significant role in these accomplishments. Please see this article for more detail about his tenure appointment.

We have celebrated our 10th anniversary of recruitment and look forward to the continued successes of this study. Our work has had substantial effect on the care of children and adults with a disease-causing variant in DICER1.

The published research studies from the study have:

Proposed guidelines for health and cancer screening protocols for individuals with a DICER1 disease-causing variant

See proposed screening guidelines in two recent publications:.
- Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex
- DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies

Identified novel tumor types associated with DICER1
Identified non-tumor features (such as a larger head circumference, certain types of kidney abnormalities, and others) in people with a DICER1 disease-causing variant
Provided estimates of cancer risk for males and females with a DICER1 disease-causing variant across the lifespan
Provided estimates of the risk of thyroid disease for males and females with a DICER1 disease-causing variant across the lifespan
Informed a large collaborative effort to refine the rules to define exactly what a DICER1 disease-causing variant is and to ensure variants are interpreted the same way across all labs
Shown that DICER1 disease-causing variants are more common than expected in the population