Poster Sessions

GENO -39

Kathy Boon

K. Boon, A. Barker, K. Buetow, C. Compton, P. Good, M. Guyer, S. Madhavan, M. Ferguson, R. Myles, B. Ozenberg, P. Fielding, J. Peterson, C. Schaefer, E. Thomson, J. Vaught, J. Vockley, D. Gerhard

The Cancer Genome Atlas pilot project reveals novel discoveries in human glioblastoma multiforme

TCGA, an NCI and NHGRI initiative, was designed to assess the feasibility of a large-scale, high-throughput effort to generate data that systematically explore the entire spectrum of genomic changes involved in human cancer and is focused on three human cancers: glioblastoma multiforme (GBM), lung (squamous carcinoma) and ovarian (serous cystadenocarcinoma). This Pilot Project consists of four integrated components: a Biospecimen Core Resource (BCR), Cancer Genome Characterization Centers (CGCCs), Genome Sequencing Centers (GSCs) and a Data Coordination Center (DCC). Genomic analysis includes chromosomal region copy number alterations and loss of heterozygosity, gene expression profiles, and DNA methylation changes. Simultaneously 601 cancer-related genes as well as genes identified by genomic analysis as potentially associated are sequenced by the GSCs. Integrative analysis of all data generated in the GBM tumors resulted in novel discoveries in three major pathways known to be implicated in GBM: receptor tyrosine kinases and their downstream signal transduction through the PI3 kinase pathway, the p53 tumor suppressor pathway, and the cyclin-dependent kinase/Rb tumor suppressor pathway. Somatic mutations were found in NF1, ERBB2 and PIK3R1. Surprisingly, TP53 was the most frequently mutated gene in the analyzed GBM cohort. All data are shared with the scientific community through public databases (http://tcga-data.nci.nih.gov).