From PhysOrg:
The Washington University School of Medicine in St. Louis team initially discovered a mutation by completely sequencing the genome of a single AML patient. They then used targeted DNA sequencing on nearly 300 additional AML patient samples to confirm that mutations discovered in one gene correlated with the disease. Although genetic changes previously were found in AML, this work shows that newly discovered mutations in a single gene, called DNA methyltransferase 3A or DNMT3A, appear responsible for treatment failure in a significant number of AML patients. The finding should prove rapidly useful in treating patients and which may provide a molecular target against which to develop new drugs.
“This is a wonderful example of the ability of the unbiased application of whole-genome, DNA sequencing to discover a frequently mutated gene in cancer that was previously unknown to be correlated with prognosis,” said Eric D. Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), a part of the National Institutes of Health, which co-funded this study. “This may quickly lead to a change in medical care because physicians may now screen for these mutations in patients and adjust their treatment accordingly.”
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