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