International Sarcoma Kindred Study: Understanding the Genetics

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In this video, Joshua Schiffman, MD, and R. Lor Randall, MD, FACS, of the Huntsman Cancer Institute at the University of Utah, discuss their involvement with the International Sarcoma Kindred Study.

The study's goal is to create a global resource to study the genetic risk factors for sarcoma, a disease that often tends to be deadly, especially after metastases. The researchers involved, including Drs. Schiffman and Randall, aim to understand where the disease comes from, which people are at risk, and hopefully identify ways to prevent its development.

In particular, Drs. Schiffman and Randall are focusing on Ewing sarcoma—the second most common bone tumor that occurs in children and young adults. They plan to collect and analyze DNA from children and adults with Ewing sarcoma and their families to determine if there is a “genetic clue” that will help clinicians identify who went on to develop the disease.

Drs. Schiffman and Randall note that researchers already have a great deal of understanding about the molecular genetics of Ewing sarcoma, which involves a specific genetic translocation, but they have yet to determine why the event occurs, including predisposition to the event.

Because the International Sarcoma Kindred Study brings together a collection of oncologists, surgeons, psychologists, and genetic epidemiologists across the globe, Drs. Schiffman and Randall are hopeful that, despite the aggressive nature of the disease, sarcoma can be conquered.

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