"Until now, no one has sequenced a patient's genome to find all the mutations that are unique to that person's disease," says lead author Timothy Ley, M.D., a hematologist and the Alan A. and Edith L. Wolff Professor of Medicine. "We didn't know what we would find, but we felt that the answers to why this patient had AML had to be embedded in her DNA."
To date, scientists involved in large-scale genetic studies of cancer have not gone so far as to do a full side-by-side comparison of the genomes of normal cells and tumor cells from the same patient. Rather, most earlier studies have involved the sequencing of genes with known or suspected relationships to cancer, a method that likely misses key mutations.
"The determination of the first complete DNA sequence of a human cancer genome, and its comparison to normal tissues of the same individual, is a true landmark in cancer research," says geneticist Francis Collins, M.D., Ph.D., former director of the National Human Genome Research Institute. "In the past, cancer researchers have been 'looking under the lamppost' to find the causes of malignancy - but now the team from Washington University has lit up the whole street. This achievement ushers in a new era of comprehensive understanding of the fundamental nature of cancer, and offers great promise for the development of powerful new approaches to diagnosis, prevention and treatment."
An estimated 13,000 cases of AML will be diagnosed in the United States this year, and some 8,800 will die of the disease. It occurs most often among those age 60 or older and becomes more difficult to treat as pa
|Contact: Caroline Arbanas|
Washington University School of Medicine