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Genome of Leukemia Patient Reveals Common Mutations

Findings could help scientists understand genetic basis of cancer

WEDNESDAY, Aug. 5 (HealthDay News) -- Decoding the genome of a man with acute myeloid leukemia (AML) revealed genetic mutations that may be common among other cancer patients.

Scientists at the Washington University School of Medicine in St. Louis detected one mutation that's common in brain tumors called gliomas and another that was found in a second patient with AML.

Neither of the mutations had been previously linked to leukemia. The fact that these mutations sometimes occur in other patients suggest they play a role in the development and progression of cancer, they said.

The researchers sequenced the genome of a man who was diagnosed with AML at age 38 and had been in remission for more than three years. He was selected for genome sequencing because he had typical clinical and molecular features of the disease, including two AML-related mutations already known to the researchers.

They were surprised to find that 52 of the 64 mutations believed to be linked to the man's cancer were in long stretches of DNA between genes in regions of the genome that may influence how genes work, the researchers said. These areas of the genome are only now being studied for their possible connections with cancer.

"Other than the two mutations the patient was known to have before his genome was sequenced, we never would have guessed any of these mutations -- they were a huge surprise," study co-author Richard K. Wilson, director of the university's Genome Center, said in a school news release.

The study appeared online Aug. 5 in the New England Journal of Medicine.

While this new information doesn't yet point to new treatment options, it does show the strong potential of sequencing many cancer genomes to better understand the genetic basis of cancer.

"Only by sequencing complete genomes of cancer patients are we going to find unexpected, recurring genetic mutations that are highly likely to be important for cancer to develop and grow," study senior author Dr. Timothy Ley, a professor of medicine, said in the news release. "Gaining a genome-wide understanding of cancer lays the foundation for developing more powerful ways to diagnose, classify and treat patients."

More information

The U.S. National Cancer Institute has more about cancer genetics.

-- Robert Preidt

SOURCE: Washington University School of Medicine, news release, Aug. 5, 2009

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