Reverse BRCA2 mutation
https://www.nature.com/articles/s41467-022-34109-8
This will be a lengthy post as I don't know how to pose my question to members here without considerable background info. I was diagnosed with pancreatic acinar cell cancer on Aug. 27, '23 (my birthday, mind you ). I was put on Folfirininox for 6 mo., 12 cycles, and it the end of the treatment the last CT scan showed no evidence of the previous tumor/lesions that were on my pancreas (5.3 cm), several lesions on my omentum, and 2 of the 3 small tumors on my liver were gone, or not visible. I was very diligent with a 1/2 m. a day swimming exercise throughout the Folfirinox chemo treatment. I have the BRCA2 mutation with acinar cell pancan and was accepted into a research study at the NIH in Bethesda, MD under Dr. Christine Alewine and was given Olaparib as it has shown promise with people with the BRCA 2 mutation. I was in the program for 3 months, 3 CT scans, and the last one showed no metastases but growth of the one remaining liver tumor that the Folfirinox did not kill. I'm a diabled vet and the VA was paying my bills to my local cancer center, Levine Cancer Center, in Concord, NC. Due to my local VA med. facility having increased the size of it's oncology dept. while I was on the NIH study, when the NIH dropped me, my care was transferred from LCC to my local VA med. facility. The oncologist there impressed me as a very knowledgeable doc. He wanted another DNA profile done on the tissue that was still available from the biopsy on this "rogue tumor/escape lesion" that had not responded to either Folfirinox or Olaparib. This one tumor had increased in size to the point I was having considerable pain on the right side of my lower abdomen and the VA doc told me the tumor was large enough to put pressure on the membrane surrouding my liver. He had gotten the results back from the DNA profile he ordered and told me he was going to put me on a chemo regimen of Gemcitabine/Abraxane and that the DNA profile showed this would be more effective on the remaining tumor. He gave me oxycodone for day time use and 12 hr. slow release morphine for sleeping. After the 3rd weekly infusion of Gem/Abr., two days later the pain stopped suddenly. My VA doc said this was very good news and I took it so as well. So, to get to the end of this long tale, my VA doc told me the results from the DNA profile showed that I had had a "reverse BRCA 2 mutation". The link I provided at the start of my post here explains this action. The tumor had repaired that BRCA 2 mutation and he called it "gain of function" and was the reason he put me on the Gem/Abr. as it would be more effective in targeting this "repaired tumor". So, my question finally: has anyone on this forum had this happen with acinar cell pancan?
Interested in more discussions like this? Go to the Pancreatic Cancer Support Group.
Crickets? No one on this forum has any experience with the reverse BRCA 2 mutation?
My guess is that most people do not have a new biopsy after drugs stop working. Insurance probably doesn't usually pay to have DNA sequencing done twice. (I'm having trouble getting them to pay once.) So even if people do have a reversion of a BRCA2 mutation, they mostly wouldn't know.
It sounds to me like you have an unusually thorough doctor who is making well-informed decisions. Are you concerned that something is wrong? Do you have the sequencing report?
I was told by my VA doc that Medicare would not pay for another DNA test and he had the VA pay for it. You're probably right. No, I don't have the sequencing report but I'm trusting that the doc read it right. There is evidence that the Gem/Abr. is working as I have no more pain on my lower right abdomen. Another CT scan in a few weeks should tell the tale on this new chemo. Thank you for your time and input.