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Genome Scans May Reveal Life-Saving Alternatives for Cancer Patients
Date:4/19/2011

sess other atypical cases of the leukemia, added Wilson, who is director of The Genome Institute at the Washington University School of Medicine in St Louis.

In a second case, also documented in the journal, the outcome was not so good for the patient, who died after battling several different forms of cancer. But it did provide hope for her children, who may have inherited her genes, and for other people with the same syndrome.

This woman, 37 years old when she was first diagnosed with breast cancer, had what's known as "cancer susceptibility syndrome," in which people of a relatively young age without an apparent family history of cancer develop multiple different types of the disease.

While the woman had breast and ovarian cancer first, the last cancer she developed was AML, which this group has been studying.

Although the woman died at the age of 42, a full-genome scan did reveal some useful information.

"We were expecting to find some interesting mutations in the tumor but we actually found the mutations in the germ line -- the normal cell DNA," Wilson explained.

This meant that "this was a mutation that happened very early in her life that presumably resulted in a high susceptibility to these cancers," he said.

The mutation was in the TP53 gene, which is involved in tumor suppression.

"The finding came too late to help her case but, we thought, if we're reading this correctly and if she has passed this gene along to her children, that would be very useful information for the family," Wilson said.

They went back to her physicians with the information who then, assumedly, shared it with the family.

So when are other patients going to have access to this type of sophisticated and sometimes life-saving scan?

Wilson guesses in about five-to-10 years.

One issue is cost, though Wilson is less worried about that one. The scans for the two patients in the journal studies cost about $40,
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