Point mutations as important as chromosome aberrations
 

Hi All,
Now the researchers try to find point mutations that can tell us prognosis and which patients that will benefit from a special therapy.

They report that mutation status is important clinically and in particular, that mutations in five genes — TP53, EZH2, ETV6, RUNX1, and ASXL1 — predict survival independent of other variables currently used in practice.

“The next step is to look at patients where we know exactly how they were treated, look for these same mutations, and see if any of these mutations predicted how they respond to therapy. Does mutation A mean you won’t benefit from therapy? Does mutation B mean you’re going to be a really high responder?”

http://www.healthcanal.com/blood-hea...-survival.html

We already know from other studies that the TET2 mutation gives a better prognosis and that more than 80 % of the patients with this mutation responded to Vidaza in one study.
Kind regards
Birgitta-A

They predict that doctors will someday be able to study your whole genetic makeup and know exactly which medication will work for you, or which to concoct for you, as an individual, rather than relying on broad studies of patient populations.

We know this will happen gradually over time, but the sooner we get there the better.

And then there's the human metagenome, which is way bigger than just the set of human genes, that they need to contend with...

http://www.human-microbiome.org/file...mendations.pdf