On Sequencing the Full Genome of a Cancerous Cell

In November 2008, the journal Nature published 2 extraordinary articles revealing the potential utility for genomics. Each contribution was a gargantuan task and technical tour de force. One article described the reconstruction of the woolly mammoth genome, using ancient DNA salvaged from the hair of an extinct mammoth frozen in permafrost for over 100,000 years. The other described the first complete sequencing of a cancer cell—a cytogenetically “normal” acute leukemia cell.Each of these contributions was reported on by major media outlets, and these reports led to grandiose, futuristic predictions of what to make of this vast if repetitive genetic information. In the case of the mammoth, the frequently voiced hope was that the DNA sequence could lead to regeneration of a living woolly mammoth—presumably for research purposes and not to serve as the ultimate fur coat. For the cancer cell, the hope was that the full coding DNA sequence of the malignant cell could tell clinicians how to uniquely treat each patient with cancer.For now, both those dreams are science fiction, but the latter scheme seems far more approachable than the former. In probing more than 2.5 million single nucleotide variants, investigators found more than 97% concordance with the “normal” genome of the same individual, based on sequencing DNA from healthy skin. In fact, leukemic cells had acquired mutations in only 10 named genes across the human genome, a new standard for needle-in-the-haystack searches.Intriguingly, 2 of the mutated genes were FLT3 and NPM1, loci implicated in previous...

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Harold J. Burstein, MD, PhD, editor-in-chief of JNCCN, is an Associate Professor of Medicine at Harvard Medical School and a medical oncologist at Dana-Farber Cancer Institute and Brigham & Women's Hospital. He is a clinician and clinical investigator specializing in breast cancer.

Dr. Burstein attended Harvard College and earned his MD at Harvard Medical School, where he also earned a PhD in immunology. He trained in internal medicine at Massachusetts General Hospital and was a fellow in medical oncology at Dana-Farber before joining the staff. Dr. Burstein's clinical research interests include novel treatments for early- and advanced-stage breast cancer and studies of quality of life and health behavior among women with breast cancer. He has written widely on breast cancer in both traditional medical journals and on the web, including New England Journal of Medicine and Journal of Clinical Oncology.

International committees focusing on cancer treatments that he has or continues to participate in include the NCCN Clinical Practice Guidelines Breast Cancer Panel, St. Gallen Breast Cancer Panel, CALGB Breast Cancer Committee, ASCO Health Services Research and Clinical Research Committees, the National Quality Forum Breast Cancer Technical Panel, and other ASCO expert panels.

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