http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1005428
So, this caught my eye. Another neat use of the awesome TCGA cancer database...
oncodomains - families of protein domains in which somatic variants from one or more genes containing the same domain form a hotspot.
Oncodomain hotspots are defined as protein domain positions where somatic variants for a specific cancer type occur more frequently than expected by chance
From their methods:
Their results are interesting. I struggle with believing so much of the validity of work looking for specific variants with cancer. We have a long, long way to go to get the statistical power we need to really draw some substantial conclusions. Moreover, as this paper discusses, many mutations are rare somatic variants. If there is anything that modern cancer genomics has shown us, it’s that the mutations are highly heterogeneous. So, this is a cool approach — let’s at broden our specificity a bit, and identify mutations that are significant at the protein domain level. Nice work.
