Sanger Institute partners with St. Jude to support discovery, understanding of genetic mutations in paediatric cancers

The Wellcome Trust Sanger Institute is combining the power of COSMIC, its large-scale cancer genetics database, with ProteinPaint data mining and visualization system at St. Jude Children’s Research Hospital in Memphis TN, to support the discovery and understanding of genetic mutations in paediatric cancers.

The agreement will provide regular updates and exchanges of cancer mutation data between both institutions to ensure the best support for research in all areas of childhood cancer, and will be freely available to researchers in all areas of science.

St. Jude Children’s Research Hospital is the leading institute in the US for research on understanding the genetic basis of paediatric forms of blood, brain and bone cancers. To characterise the genetic variants responsible for driving cancer formation in children, the hospital sequences the DNA from hundreds of childhood tumours. Their new system to explore this data, ProteinPaint, has been carefully designed to provide simple and easy ways to visualise and understand such large quantities of information.

The challenge is to identify which genetic variations are playing an active role in driving cancer development and which are there by chance - simply passengers along for the ride. It is only by comparing the childhood tumour genomes with many other tumour genomes that the “cancer drivers” can be separated from the “passengers”.

To enable such large-scale comparison, the Sanger Institute developed COSMIC - the Catalogue of Somatic Mutations In Cancer - an expert-curated database describing the wide variety of genetic variations associated with all forms of human cancer. COSMIC has been developed and maintained for more than 12 years and contains data on more than 4 million mutations.

Dr Simon Forbes, Head of COSMIC at the Sanger Institute, said:

It's very exciting to be working with St. Jude to help characterise the causes of childhood cancer. Many of our users are supporting diagnostic and pharmaceutical discovery and in this way we hope to support future improvements for these young patients.

Dr Jinghui Zhang, chair of St. Jude’s department of computational biology, said:

We want this to be the definitive resource for genomic information for the pediatric cancer community. This collaboration will allow us to share data across two institutions to better understand, using our combined knowledge, what causes cancer.