Pediatric Cancer Genome Project

    St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project

    St. Jude Children's Research Hospital and Washington University School of Medicine in St. Louis are engaged in an unprecedented effort to identify the genetic changes that give rise to some of the world's deadliest childhood cancers. The team has joined forces to decode the genomes of more than 600 childhood cancer patients. The St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project is the largest investment to date aimed at understanding the genetic origins of childhood cancers. Scientists involved in the project are sequencing the entire genomes of both normal and cancer cells from each patient, comparing differences in the DNA to identify genetic mistakes that lead to cancer.

    Explore is a freely available website for published research results from the Pediatric Cancer Genome Project. It is designed to expand access to high-quality genomic data related to pediatric cancers, accelerate discovery and hypothesis testing, and provide comprehensive visualizations of the data. Explore is also designed to make it easier for clinical and basic researchers to search published results from the PCGP.

    Selected Highlights

    Brain Tumors: Low-grade gliomas

    We discovered mistakes in two genes responsible for more than 50 percent of diffuse low-grade gliomas, a subtype of the most common childhood tumor of the brain and spine. The findings raise hopes for targeted therapies against this hard-to-treat tumor.
    Nature Genetics, April 2013
    Release: Gene sequencing project finds new mutations to blame for a majority of brain tumor subtype

    Degenerative Disorders

    We discovered new gene mutations linked to a family of devastating diseases, including amyotrophic lateral sclerosis—or Lou Gehrig’s disease. This may help advance new treatments for some of the most common degenerative disorders of the muscle, brain and bone.
    Nature, March 2013
    Release: Two new genes linked to amyotrophic lateral sclerosis (ALS) and related disorders

    Leukemia: AMKL

    We discovered a mistake responsible for almost 30 percent of cases of AMKL, an uncommon subtype of childhood leukemia, that paves the way for desperately needed treatment advances. 
    Cancer Cell, November 2012
    Release: Gene sequencing project identifies abnormal gene that launches rare childhood leukemia

    Brain Tumor: Medulloblastoma

    We discovered genetic mistakes in three of the four subtypes of medulloblastoma that involve genes that are already the focus of drug development.
    Nature, July 2012
    Release: Gene sequencing project identifies potential drug targets in common childhood brain tumor

    Nervous System Tumor: Neuroblastoma

    We identified a gene mutation that may help explain why outcomes for children with advanced neuroblastoma vary dramatically depending on the child’s age at diagnosis.
    Journal of the American Medical Association, March 2012
    Release: Genome sequencing initiative links altered gene to age-related neuroblastoma risk

    Eye Tumor: Retinoblastoma

    We discovered clues to the tumor’s rapid development that enabled us to identify a promising anti-cancer agent that might be an effective treatment.
    Nature, January 2012
    Release: Gene identified as a new target for treatment of aggressive childhood eye tumor

    Leukemia: ETP-ALL

    We found unexpected genetic alterations in a deadly type of childhood leukemia called ETP-ALL that could change diagnosis and treatment for children with this disease. 
    Nature, January 2012
    Release: Cancer sequencing project identifies potential approaches to combat aggressive leukemia

    Brain Tumor: Diffuse Intrinsic Pontine Glioma

    We found that a startling 78 percent of these brainstem tumors carried changes in two genes not previously linked to cancer.
    Nature Genetics, January 2012
    Release: Read Cancer sequencing initiative discovers mutations tied to aggressive childhood brain tumors

    Smarter Tool: CREST

    Project researchers developed a new computational model, CREST, to evaluate mutations and control for potential errors. This algorithm outperforms prior tools so well it is being adopted globally.
    Nature Methods, June 2011
    Release: Researchers improve method for finding genetic mistakes that fuel cancer

    Mining DNA Clues

    We developed a method to mine the repetitive DNA sequences at the ends of chromosomes for clues about the mistakes fueling cancer and insight into one mutation’s contribution.
    Genome Biology, December 2012
    Release: Gene sequencing project mines data once considered 'junk' for clues about cancer