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Genetic source of rare childhood cancer found; gene is implicated in other cancers
Date:4/20/2009

ilies has revealed the strong genetic component of this disease," says Jack Priest, M.D., research director of the International PPB Registry in Minnesota. "We are thrilled that our colleagues Dr. Hill and Dr. Goodfellow uncovered an important mutation and have begun to understand the cellular mix-up that results in malignancy."

Current studies show that about 40 percent of PPB cases occur in families with a history of the disease or certain other childhood cancers. Most pediatric cancers occur sporadically, without any familial patterns. This led scientists and doctors to suspect that PPB was caused by an inherited genetic abnormality. To uncover the role of DICER1, the research team studied the genetic makeup of 11 extended families with two or more members having PPB or related childhood cancers.

The scientists say that finding this variant form of a gene in some PPB families is a first step to understanding why PPB and other conditions may occur in some families. But, because only a small number of families were studied it isn't known whether DICER1 mutations explain all PPB cases, and much more needs to be learned before this information can be directly helpful to PPB families.

In collaboration with Hill and Goodfellow, and with Louis P. Dehner, M.D., professor of pathology and immunology at Washington University School of Medicine, who first described PPB in 1988, the International PPB Registry in Minnesota has collected and analyzed PPB cases from around the world for more than 20 years. More than 260 confirmed cases are being followed. The registry is funded by Minneapolis/St. Paul-area foundations and is the only organization in the world focused exclusively on PPB.


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Contact: Gwen Ericson
ericsong@wustl.edu
314-286-0141
Washington University School of Medicine
Source:Eurekalert

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