How do you know if your cancer has genetic mutations?

Posted by sheridanb @sheridanb, May 31 12:41pm

I see people commenting about different mutations and asking questions about treatment. But where do you learn about the mutations? Some test that we haven't seen... or possibly haven't seen results from? Thanks. Just wondering if there is a test we should be requesting.

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@gamaryanne

I am on week 2 of the combo arm of Revolution Medicines 9805 (KRAS g12d specific) and 6236 (pan KRAS).

If anyone has questions I will be happy to answer. Bloodwork today; not sure it will reveal anything except tumor marker status. Scans in 6 weeks.

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Hello! My mother just got a spot in this combo trial, and I’d love to hear about your experience with it if you don’t mind sharing. I hope you're feeling well and thank you in advance for any insight you might be able to provide.

Laura

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@carfbuch

I had two Tempus blood biopsies and a Signatera CtDNA. The Tempus blood biopsies identified that my cancer had the BRAF mutation.
My pancreatic cancer was caught at Stage 1A and all blood biopsies and Signatera have come back negative. I am presently being monitored with CT scans and blood biopsies to catch any possible micro metastasis.
In the event of this happening, I would be put though six months of Meknist and Sorafenib which are kinase inhibitors. Identifying which mutation I had, allows for a more targeted treatment approach.

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Hello carfbuch,
That’s fantastic news and great advice about knowing your mutations! Could you please give a brief history on how you got to a diagnosis of stage 1? Were you having g specific symptoms, where did you get treated ? Or were you diagnosed at this early stage by chance?
Thanks in advance.

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Hello marienewland, The finding of my cyst on the head of my pancreas was incidental after going for a CT scan for diverticulitis. After the CT with contrast, I had an MRI which showed a mucinous cyst (about 3cm size) with septations and an enlarged main duct. After my MRI, I had a biopsy which showed the cells in my cyst had "had grade dysplasia". Due all of these worrisome features, I underwent a Whipple procedure on June, 2024 at Froedtert Hospital in Milwaukee, WI.
After the cyst was resected, it was sent for a tissue analysis, where it was confirmed that that the cells inside the cyst where of the invasive adenocarcinoma type. All my cancer markets, blood biopsies, lymph nodes, ducts, duodenum were and continue to be cancer free.
Presently, I am being monitored every two / three months with blood biopsies and CT scans as mentioned in my earlier post.
I am very blessed that my cancer was caught early and so grateful for the medical and surgical team for providing excellent care and support while in this difficult journey.
I hope you find this information helpful. Prayers and take it one step at a time.

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@carfbuch

Hello marienewland, The finding of my cyst on the head of my pancreas was incidental after going for a CT scan for diverticulitis. After the CT with contrast, I had an MRI which showed a mucinous cyst (about 3cm size) with septations and an enlarged main duct. After my MRI, I had a biopsy which showed the cells in my cyst had "had grade dysplasia". Due all of these worrisome features, I underwent a Whipple procedure on June, 2024 at Froedtert Hospital in Milwaukee, WI.
After the cyst was resected, it was sent for a tissue analysis, where it was confirmed that that the cells inside the cyst where of the invasive adenocarcinoma type. All my cancer markets, blood biopsies, lymph nodes, ducts, duodenum were and continue to be cancer free.
Presently, I am being monitored every two / three months with blood biopsies and CT scans as mentioned in my earlier post.
I am very blessed that my cancer was caught early and so grateful for the medical and surgical team for providing excellent care and support while in this difficult journey.
I hope you find this information helpful. Prayers and take it one step at a time.

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That’s wonderful news! Such a rarity. It started with getting a CT for diverticulitis; demonstrates your dr was very thorough as my mom had diverticulitis and didn’t get CT scan. Continued good wishes for you.

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