BRCA mutation in tumor but not in patient

Hi @caregivercal, BRCA mutations increase a person’s risk of several cancer types. The mutation is most commonly associated with breast cancer and ovarian cancer, but it can also increase risk of pancreatic cancer.

I'm sorry to hear that your daughter was diagnosed with pancreatic cancer. The good news is having discovered that her tumor has the BRCA mutation, she can get treatment that will work specific to her type of tumor. "There is evidence that cancer cells with BRCA mutations may respond particularly well to a certain type of chemotherapy as well as a targeted therapy called PARP inhibition. The PARP inhibitor Lynparza® (olaparib) was approved for patients with metastatic pancreatic cancer, who have BRCA1 or BRCA2 mutations, and whose tumor previously" Read more here:
- 5 Things to Know about BRCA Mutations and Pancreatic Cancer https://pancan.org/news/5-things-know-brca-mutations-pancreatic-cancer/

Has your daughter had genetic testing and couselling? Do you have a history of cancer in your family? What is your daughter's treatment plan?

Thank you. She herself did not test positive for BRCA gene but her tumor did. No family history of cancer. I know she has chemo infusions with multiple drugs. Her doctor did mention that eventually she may go onto a pill for maintenance that is compatible with her tumor mutation.

Your daughter has in the tumor what is known as a somatic BRCA mutation. They occur sporadically in patients as a result of a DNA strand break that was incorrectly repaired and that cell survived and proliferated which was the start of the tumor. Many patients respond well to chemotherapy regimens containing a platin agent such as oxaliplatin in the chemo cocktail (m)Folfirinox and cis-platin used with Gemzar (Gemcitabine).

Standard of care treatment is from 2-3 months on one of those regimens and then the patient is switched to the PARP inhibitor Lynparza (Olaparib) as maintenance monotherapy. Since it is a somatic mutation, when testing shows no evidence of disease (NED), the patient can stop treatment as the risk has been eliminated.

The following link is to patient Davi Dagistino who is a close, personal friend who was diagnosed with a somatic BRCA2 clinical trial and was taking the same PARP inhibitor I take for my germline BRCA2 mutation.We were both stage IV- she diagnosed 6 years ago and my diagnosis was 12 years ago. Davi and I are both NED and she recently finished treatment and no longer has to take the PARPi. She receives surveillance scans I believe every 6 months at this point.

Davi Dagostino Pancreatic Cancer Journey
https://davispancan.wordpress.com

Thank you. That sounds encouraging and it is helpful and inspiring that you two are doing so well and providing hope to others.

12 years?! Thanks for saying so, I am new here with germline BRCA 2. It’s amazing to hear a number like that, I’m responding well but still was thinking more like a year than “indefinitely.”

(Sorry to intrude on the exchange.)