Monday, August 10, 2009

Second whole cancer genome published

Today in the New England Journal of Medicine the second paper detailing the whole genome sequencing of a tumor and its matched normal was published: Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome. Accompanying the article is an editorial well worth reading by Jim Downing from St. Jude Children’s Research Hospital discussing the significance of these whole genome sequence efforts from the medical researcher and practitioner’s perspective. Dan Koboldt has posted a nice summary of the journal article.

The most interesting finding from this research was the recurring mutation in a gene called IDH1. The likelihood of the same mutation randomly occurring in 16% of similar AML patients in vanishingly small. In other words, it is quite likely that this mutation plays a role in AML biology. Mutations in this gene have been previously described in glioblastomas (brain cancer) where they were associated with improved outcome for patients. In contrast, correcting for other mutations which are associated with better outcomes in AML, the IDH1 mutation is associated with poorer outcomes in AML. Thus, while IDH1 seems to play a role in glioblastomas and AML, its role in each may be quite different.

(source URL, Via PolITiGenomics.)