What are actionable/targetable mutations?

In a previous Health Tree University lesson, we explored driver mutations, the key players that fuel cancer's growth. But what if we could identify specific mutations that can be targeted for treatment? In this lesson, we'll uncover what actionable or targetable mutations are and why finding them is crucial in the fight against cancer. What are actionable or targetable mutations? Actionable or targetable mutations are actually the driver mutations that we could act on, that we have medicines for. For example, if we use CML as a disease, we have translocation causing BCR-ABL fusion, and this was one of the first targetable medicines called Gleevec or Imatinib that was approved. If we use another example on AML, there's a targetable mutation on IDH1, IDH2, and we use Imatinib and Imatinib for those. Those mutations and those medicines allow us to use precision medicine toward the patient, so target the drug toward the patient's specific biology, specific disease. And those medicines usually are either small molecules or immunomodulating medications, and they don't have the side effects of the traditional old-fashioned chemotherapy drugs, and they allow us to limit the side effects or create a little bit different side effect profile to our patients and more tolerable and provide better quality of life. I think this is very important that we identify more of the targetable mutation, and this is where the field of oncology and hematology is going to create more precision medicine, more targetable treatments for our patients for the future, because even multiple myeloma, it's not one disease. It's multiple diseases combined as a multiple myeloma diagnosis, but they could behave so differently depending on the patient and the biology. That generally refers to a genetic change which has a specific treatment associated to it. This, for example, is exemplified by a mutation in the Ras oncogene, which happens very commonly in skin cancers, but also happens in myeloma. These mutations activate cellular growth pathway, which is controlled by Ras and MAP kinase. Indeed, there are drugs, several drugs, that have been developed to target different points in this pathway. So that's what it means when it says it's targetable, that there's a genetic change that has a drug that is specific for these genetic changes, and that is actually very, very helpful because then we can actually recommend a particular treatment for a patient. So 11-14 is another very good example of that because it renders the patients more sensitive to venetoclax, and there were trials done where venetoclax was used, and these subsets of patients definitely benefited much more, and we've treated patients in the clinic with venetoclax that have gone into long-term remissions with this.