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Genetic Source of Rare Childhood Cancer Found; Gene is Implicated in Other Cancers
Date:4/19/2009

ers. Now we've shown that mutations in the DICER1 gene are directly linked to the development of PPB."

"For years our large collection of cases of PPB and families has revealed the strong genetic component of this disease," said Jack Priest, M.D., research director of the International PPB Registry in Minnesota. "We are thrilled that our colleagues Drs. Hill and Goodfellow uncovered an important mutation and have begun to understand the cellular mix-up which results in malignancy." Current studies show around 40 percent of PPB cases occur in families with a history of the disease or certain other childhood cancers. In contrast, most pediatric cancers occur sporadically, without any familial patterns. This led scientists and doctors to suspect that the cancers were 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 Drs. Hill and Goodfellow, and with Louis P Dehner, M.D., of Washington University St. Louis, 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.

Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski
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SOURCE Children's Hospitals and Clinics of Minnesota; Washington University School of Medicine in St. Louis; Children's National Medical Center in Washington, D.C.
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