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BRCA mutation in tumor but not in patient

Pancreatic Cancer | Last Active: May 28 1:26am | Replies (5)

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@stageivsurvivor

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

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Replies to "Your daughter has in the tumor what is known as a somatic BRCA mutation. They occur..."

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.)