Powerful New Tool Reveals the Mutations that Lead to Pediatric Cancer

First Posted: Dec 29, 2015 03:38 PM EST
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Scientists may have created a new tool to advance the study of mutations that lead to and fuel pediatric cancer. The new tool could be huge when it comes to better understanding the cancer genome.

The new tool is called ProteinPaint, and it provides users with a gene-by-gene snapshot of mutations from pediatric cancer that alters genetic instructions for encoding proteins. The application provides critical information unavailable with existing visualization tools. For example, ProteinPaint shows whether mutations are present at diagnosis or just at relapse, or whether mutations occur in almost every cell (germline) or just cancer cells (somatic).

ProteinPaint's novel interactive infographics allow researchers to see all mutations in individual genes and their corresponding proteins at a glance. This includes detailed information about mutation type, frequency in cancer subtype and location in the protein domain. This may provide clues about how a change might contribute to a cancer's start, progression or relapse.

"Each day brings new information about mutations that drive human cancer," said Jinghui Zhang, one of the researchers, in a news release. "Novel tools are essential to help scientists use this wealth of genomic data to advance research and find new cures. We developed ProteinPaint as an intuitive tool any scientist can easily use to explore the vast amount of information now available on cancer genomics."

ProteinPaint currently includes information on about 27,500 mutations discovered in more than 1,000 pediatric patients with 21 cancer subtypes.  Scientists also plan to update the data as new information is published.

"ProteinPaint's focus on pediatric cancer and presentation of mutations at the gene level complements existing cancer genome data portals," said Zhang. "For St. Jude, the application is the foundation for developing a global reference database for information about pediatric cancer."

The findings are published in the New England Journal of Medicine.

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