Scientists Map Cancer Patients Complete Genome

And the remaining gene from the 8 new ones may have contributed to the patients resistance to chemo because it appears to interfere with delivery of drugs into cells.

The investigators are still analyzing parts of the patients DNA that is non-coded, and may still find other mutations, said Dr Elaine Mardis, co-director of the Genome Sequencing Center at Washington University, and co-lead author of the study. But as she explained:

The role of these non-coding mutations will be more of a challenge to elucidate because we do not yet fully understand the function of this part of the genome.

Another interesting discovery in this study was that when they compared the 8 new mutations from this patient with the DNA of tumor samples from 187 other AML patients there were no matches: in other words the 8 mutations appeared to be unique to this patient. Wilson said this suggested:

There is a tremendous amount of genetic diversity in cancer, even in this one disease.

There are probably many, many ways to mutate a small number of genes to get the same result, and were only looking at the tip of the iceberg in terms of identifying the combinations of genetic mutations that can lead to AML, added Wilson.

One theory that Wilson and colleagues are working on is that the mutations happen in sequence, first one mutation occurs, this has a slight tendency toward cancer, then another one and so on, gradually accumulating lots of little tendencies toward cancer, until a final tipping point that causes the cancer cells to become more dangerous is reached, explained Ley.

Wilson, Ley and colleagues are now sequencing the genome of other AML patients and they also hope to extend their whole-genome method to investigate breast and lung cancers.

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