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Saturday, 08 November 2008 20:10

U.S. researchers decode first complete genome sequence of a cancer

The first complete DNA sequencing of a cancer genome was performed successfully at Washington University in St. Louis, Missouri. The success could likely lead to more specialized diagnoses and treatments for cancers.

Timothy J. Ley and Elaine R. Mardis, from the Department of Genetics at The Genome Center at Washington University, St. Louis, Missouri, U.S.A. led a large group of researchers from the states of Missouri and Washington in the decoding of the cancer genome that causes acute myeloid leukemia.

Science News reports in its article “First complete cancer genome sequenced” (subscription may be required) that “These acute myeloid leukemia cells are from the bone marrow of the female patient whose complete genome was sequenced in the first decoding of a complete cancer genome. The genetic study implicated eight genes not previously associated with this form of cancer.”

Their resulting paper was published, on November 6, 2008, in the journal Nature.

Its title is “DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.”

They performed DNA sequencing on a “highly malignant hematopoietic tumor,” where hematopoietic refers to the formation of blood or blood cells, pertaining to acute myeloid leukemia.

Acute myeloid leukemia (AML), also known as acute myelogenous leukemia, is a highly malignant cancer of the myeloid line of white blood cells.

Specifically, it produces a rapid accumulation of abnormal cells (leukemia cells) in the blood and bone marrow, which interferes with the normal production of blood cells (that is, it decreases the numbers of red blood cells, platelets, and white blood cells).

About 1.2% of the cancer deaths in the United States are the result of AML.

Page two continues the story.

They write in the abstract to their Nature paper: “Acute myeloid leukemia is a highly malignant hematopoietic tumor that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little in the past two decades, because most of the genetic events that initiate the disease remain undiscovered. Whole-genome sequencing is now possible at a reasonable cost and timeframe to use this approach for the unbiased discovery of tumor-specific somatic mutations that alter the protein-coding genes.”

They compared tumor cells from a female patient with acute myeloid leukemia and normal (non-cancerous) cells within the same women.

The procedure used for their research compares a normal DNA sequence with a cancerous DNA sequence within the same human patient. It is called massively parallel sequencing.

The researchers decoded about three billion DNA bases from the genome.

They stated, “We discovered ten genes with acquired mutations; two were previously described mutations that are thought to contribute to tumor progression, and eight were new mutations present in virtually all tumor cells at presentation and relapse, the function of which is not yet known.”

They conclude, “Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies.”

Dr. Ley, one of the authors of the study, stated, “We need to know the genetic rules of cancer.” [Science News]

The research performed by the team could lead to specialized treatments for the various cancers known to the medical community.

Dr. Mardis, another one of the researchers, stated, “Right now, they’re all treated the same way they were 25 years ago.” [Science News]

The results of the study are a major accomplishment in cancer research and could likely lead to much better diagnosis and treatment of cancers in the future.


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