BRCA and ATM

Fascinating. If I had BRCA or ATM I'd research this (might be bogus but might be a lead).

ncbi.nlm.nih.gov/labs/pmc/a...

[Scout4answers]

Great find Russ!

My current MO and urologist have refused to give me genetic tests, this may help me convince Dr Szmulewitz to order the tests.

The chart of PSA results in response to High T look very encouraging.

Would love to know this patient's PSA today, 4 years latter.

[Hidden in reply to Scout4answers]

My MO recommended Guardant 360. She likes it better than Decipher or Biocept.

She wants me to do gene testing every 3 months. Somatic (cancer mutations).

[Ahk1 in reply to Hidden]

Every 3 months even though you tested negative for both somatic and inherited ? I am wondering why? What were her reasonings?

[Hidden in reply to Ahk1]

I'm not going to do another germline test.

But the somatic mutations can change. Cancer mutates over time. One of her patients was AR-V7 negative and then became positive. It was actionable and they changed therapies and he did well. I don't recall the details.

nature.com/articles/s41467-...

[Hidden in reply to Scout4answers]

If you have siblings or any children I think it is very important to get a germline test. That gives info on inherited gene mutations. I didn't have any mutations (neither somatic nor germline). No matter what, it is good to tell your kids and siblings.

[kaptank]

I have been wanting to find the genetic details of that famous early case. I did BAT and judged I was a pretty average responder but iterations between antiandrogen gave about another 3 years on top of the one before intial failure for bicalutamide. Another 3 years? Not too foul. PSMAGa 68 at beginning and end showed no change in mets. I have since found out I am BRCA2. I intend to revisit BAT in the future but for now am in the MAGNITUDE trial combining abi and the PARP inhibitor niraparib.

[Rolphs]

I have CHEK2 mutation. Still keeping the beast under control with Firmagon and Xtandi but this is great information and I will discuss BAT with MO when things go south. Have already discussed PARP inhibitors as next step. Thanks 🙏

[Hidden in reply to Rolphs]

Sure. Let us know how it goes. Some MO's are cool with BAT. BAT isn't SOC though so some are going to frown on it. I'm lucky, my MO discusses things with me and doesn't immediately condemn my ideas. She openly admits that I know my individual cancer and how to handle it better than anyone else.

Total aside. She's one of my heroes and I am trying desperately to emulate her.

She's humble, smart, honest, and straightforward and doesn't make you feel like an idiot if you disagree with her.

[Rolphs in reply to Hidden]

I have a great women MO from DC area and really admire her but I'm still checking out all the options. I actually did my genetic work on a consult to John Hopkins. I'm still researching this but they seem to be on the cutting edge of this type of treatment and they did the work you site in the article. I used to think I was smart enough to keep up with this stuff, now I know better. It's good to have this blog to help out. Good Luck!

[Hidden in reply to Rolphs]

Please let me know if you settle on someone. I'm still searching.

[Rolphs in reply to Hidden]

Will do.

[Mascouche]

I have the BRAC2 mutation but my oncologist told me not to worry about it unless I ever become castration resistant. Is he correct in his advice?

[Hidden in reply to Mascouche]

I wouldn't worry about it. Seems to me that it might be a negative but it might be a positive. It's how you handle it.There are therapies that could help before you become CRPC. I'm guessing that he wants to play out ADT until you become CRPC and then explore those therapies. But just a guess.

[Mascouche in reply to Hidden]

I can understand the protocol. But it is always worrisome when you read something like "The 5-year survival rate for PCa at diagnosic is of 99%. But if you have BRAC2, then it is of 50%". That is quite a difference so it feels weird that BRAC2 oriented treatments aren't looked into right at the start.

[Hidden in reply to Mascouche]

The survival rate for my particular brand of PCa averages 5 years. My MO doesn't put much stock into that number.

I suspect that if you don't do any targeted therapies in the future, the average is 50%

And data is of course delayed. Therefore therapy improvements aren't reflected. How many of that data cohort did PARP_I after ADT failure? Perhaps ask your MO?

[Hidden in reply to Mascouche]

And just a guess but perhaps BRCA2 mutations are more common in people with advanced PCa. Is the 99% stat for all PCa and not just advanced? For my PCa the 5-year historical survival is about 50%.

[33Ford in reply to Mascouche]

My MO didn't start me on Lynparza until the ADT failed. Not sure what the SOC is, he set it up months before he actually had me start taking it.