NCI Deputy Director Anna D. Barker, Ph.D., said, "The Cancer Genome Atlas Pilot Project is a revolutionary step in cancer medicine that leverages advances in cancer biology, genomics technologies, biorepositories, and bioinformatics for the ultimate benefit of cancer patients. Key challenges for the TCGA Pilot Project include not only addressing cancer's complexity, but also developing the technologies to advance the science of cancer genetics. A better understanding of cancer genetics is part of the overall effort to eliminate the suffering and death due to cancer."

Data and technologies produced by other genomic projects have provided the tools necessary to produce new insights into how and why genetic changes cause cancer. The Human Genome Project, an international effort led in the United States by NHGRI and the Department of Energy, was completed in April 2003 and provided a reference DNA sequence of the human genome. The Human Genome Project also helped to advance sequencing technologies and paved the way for other genome-based research tools, including a comprehensive map of human genetic variation, or haplotypes, recently produced by the International HapMap Consortium.


Genetic mutations linked to breast cancer, colon cancer, melanoma, and other cancers already have led to diagnostic tests that can point to the most effective intervention. Recent discoveries in cancer genomics have helped to identify several treatments that work by targeting cancer cells with a specific genetic change, such as Gleevec©, a drug for chronic myeloid leukemia and gastrointestinal stromal tumors, and Herceptin©, a drug for one form of breast cancer. These successful developments support further examination of the molecular origins of cancer to more quickly develop new tools to diagnose, treat, and prevent cancer.

In the TCGA Pilot Project, a Human Cancer Biospecimen Core Resource will support the collection, processing, and distribution of cancerous and healthy, control tissue samples to Cancer Genome Characterization Centers and Genome Sequencing Centers. The genes and other genomic targets identified will be sequenced by the Cancer Genome Sequencing Centers using high-throughput methods similar to those employed in the Human Genome Project. The Cancer Genome Atlas Pilot Project seeks to identify genetic mutations in the DNA code that are specifically associated with the type of cancer being sequenced. In addition, the Cancer Genome Characterization Centers will work to identify other types of larger-scale genomic changes, such as copy number changes and/or chromosomal translocations, that contribute to cancer development and/or progression.

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