I LEARN SOMETHING - AND TEACH IT TO YOU

Linda in the Tower

(of London, that is)

 

Well, you learn stuff all the time.  For instance, today I learned that I have (actually, had) the only dental bridge in existence (in my mouth, of course) that has ever needed to be replaced because it has broken in half.  This little piece of knowledge will cost me $2492 – surely worth every penny.

I also learned something about cancer, or – more specifically – the mutations that cause them.  There is an article attributed to The Atlantic, introduced by a picture of Angelina Jolie, about new research involving the breast (and ovarian) cancer gene BRCA1.  Naively, I thought of a BRCA mutation in terms of all-or- nothing; the protein coded for by the gene works when the gene is whole, and doesn’t when it’s not.  Seems it is much more complicated than that.  BRCA is a whopping big gene, and it can mutate (get damaged) in lots of places.  Each of these qualifies as a mutation, but not all of them are dangerous.  They are called “variants of unknown significance” (VUS).  Thus, if you sequence a woman’s genes you may find a BRCA mutation – but you don’t know what it might or might not do.  So far about 350 VUSs are known – and the task of sorting them out is just beginning.  Heading the work is a researcher from the University of Washington, one Dr. Lea Sarita.  She has a long row ahead to hoe.

And, for those of you who like to boil your blood once in a while, there is a bit in this article about Myriad Genetics, the outfit that first developed the BRCA test – and is trying to patent it.  I am a confirmed capitalist and would never deny a company that has done good work a legitimate profit, but this seems to (even) me to be going too far.  Apparently they are sitting on a valuable data base about VUSs and have not shared them with the scientific community.  Sic Bernie Sanders on ‘em!

Here is the article:  http://www.theatlantic.com/science/archive/2015/10/filling-in-the-unknown-unknowns-of-cancer-genetic-testing/409828/