DEEP DIVE ON TUMORS - GENETIC MUTATIONS ETC - ANYONE ELSE? NF1, TP53 and CDK4?

A bit of good news for me today - There are three mutations in my ovarian cancer tumors that might be targeted for future treatments. The treatments are not standard of care so to get these drugs, I'd have to ask for compassionate grounds or be part of a trial. But I have a mutation in the NF1 gene - MTOR inhibitors may block the mutation - and a mutation in the CDK 4 gene - CDK 4 amplification inhibitors may block the mutation and the P53 gene may or may not have targeted treatments available. None of this would be activated until the Avastin/Taxol treatment combo I'm on stops working - I expect these targeted drugs cost many thousands . They may be available in the US now at a huge expense. For now, I am to stay with Avastin and Taxol. Knowing that these mutations exist is hugely helpful in my own research and I am going to look for supplements and off-label drugs that have shown promise in blocking these pathways. I've been reading a lot about things that might work on these tumor pathways so this is hugely helpful in my studies. I will take this as a win because some of my friends got a 'nothing found' result and I wasn't expecting much. If any of you have any of these mutations in your disease, please let me know how the information has been used in your treatment and what has transpired.  Thanks. 

 

Comments

  • StrongwomanStrongwoman Peer Support Vol
    @BellaDonna1959
    Thanks for sharing the information.  It sounds like you are happy to know the mutations and understanding them.  Make sure you talk with your Medical Team about supplements and off-label drugs and how they may or may not interact with anything you are on currently.  
    I am still waiting on my genetic material to come back from a 2nd lab with more intense testing but am fully prepared for an "inconclusive" or "genetic material not known".  
    As for trials and expense, if they are available in Canada and your team thinks you are a candidate, they will reach out to their peers for assistance as well.  The cost of them is sometimes covered under the "Compassionate Care Program" which I, personally, have been awaiting approval for since the beginning of August with no concrete answers yet.  Or if they do have them, they have not shared them with me which is frustrating.  But here I wait.
    The P53 is it identified solely or as a "wild" mutation?  Just curious.  I believe I might have seen that in my initial biopsy when they did my colonoscopy to discover what was occurring with me.  The CDK-4 I have seen some info on but can't really say much more than that as I did not explore it any further myself.  The NF-1 gene is interesting, I am going to look it up just to see what it says about it.
    Very promising for you nonetheless and am glad you felt you could share it with the rest of us.  
    Keep us posted as you go along.
  • High strongwoman it says this:  
  • Yes, I always  cross-reference my off-label drugs and supplements against my treatments - very careful to not undo any benefits.  The oncologist and hospital pharmacist know what I'm doing/taking.  They are baffled by me and my fight to save my own life (or at least prolong it) through diet, supplements (since the surgical onc gave me 'months' to live) etc along with their medicine, but they know I'm not going to stop and they can't argue with how healthy I look and feel (most of the time) and how good my blood work is. The internet is full of peer-reviewed studies (pub med for ex) proving the value of diet, supplements and treating cancer as a metabolic disease.  If mainstream oncology wants to ignore it, I can't help them, but I also can't trust them to do everything possible for me.  Hence my ongoing research.  Without my pushing for it, I wouldn't have got the Bio Diva deep dive.  I think EVERY cancer patient should have it as standard practice.  Hope you get some good news on your compassionate care and your tumor markers soon.  I feel that knowledge is power and we are our own best advocates to keep the fight going. 

  • edited October 13
    What is the Bio Dive deep dive?

    @BellaDonna1959 Can you answer the question above from JustHappyToBeHere.  Thanks, Fearless
  • Hello @JustHappyToBeHere - I know a little bit about BioDiva as I am a participant. It is a biomarker discovery project in High Grade Serous Ovarian Cancer; a clinical research trial out of Princess Margaret Hospital. You can learn about it at https://clinicaltrials.gov/ct2/show/NCT03419689
  • edited October 14
    Sorry I didn't see the question until now.  Glad someone could help.  I had chemo today so I'm in a big of a fog - will look again tomorrow.  Please reach out if you need more info.  
  • This sounds like an interesting study.  Thanks for bringing it up.
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