Woman's Cancer Genome Decoded for the First Time

Woman's Cancer Genome Decoded for the First TimeResearchers have decoded all the genes in a woman’s cancer and they have identified eight new genes. Published in the journal Nature, the study, a first of its kind, could help researchers discover better ways of treating the disease.

Researchers at Washington University School of Medicine in St. Louis used malignant blood cells from a 50 year old woman who died of acute myeloid leukemia, a cancer of blood-forming cells in the bone marrow, 23 months after she was diagnosed. The doctors then used a technique called high-throughput sequencing and mapped all the genes in her tumor cells, the compared them with the genes in a normal cell from her skin.

Next tumor samples from 187 other patients with the same type of leukemia were examined, to try to find many genes in common which would make it easier to make a drug that would treat everyone. The eight new mutations found in the woman’s tumor were not found in any of the other patients. The researchers said that it could mean that cancers that look alike may be caused by very different genetic changes.

Dr. Timothy Ley, who led the study said, "The other eight were all things that caught us off guard. They're all new. And they are all in genes that we didn't really have on our radar for this particular kind of cancer. In retrospect, they all make sense," Ley said. Out of the genes that were identified three of these normally suppress tumor growth, four promote cell growth and the last one possibly effects how drugs enter a cell said the researchers.

"This is the only way we would have found these mutations. There's no other path to get this information. I think it really has begun to tell us how little we know about cancer," Ley said. "This is the first human cancer genome that's been sequenced. In the past, we've always looked at parts of the genome for mutations. But this is the first time that we've been able to look at everything," Ley added.

Ley and colleagues are mapping another patient's gene collection also called "cancer genome," and hope to map 10 more."We need to do hundreds, if not thousands, of each of the major cancer types," he says. As sequencing this patient's genes cost $1.6 million researchers will not map every patient’s genome. This would help scientists get an idea of all the mutations that can make a cell malignant and help them to design drugs that can block the culprit genes.  

Richard Wilson, one of the researchers said, "There are probably many, many ways to mutate a small number of genes to get the same result, and we're only looking at the tip of the iceberg in terms of identifying the combinations of genetic mutations that can lead to AML."

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