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No Inherited Mutations?


Curt

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I had my 3-month follow up today. It’s really 3 months after my initial 2 week surgical follow up.  It was a chest X-ray.  CT scan will be another three months. The doctor said all looked well.  The most surprising part is that my genetic germline testing came back with no mutations. My somatic mutation is EGFR exon 19.  I’m having trouble getting my head around that given my family history.  My maternal great grand mother, maternal grandmother and five of her nine children (four daughters and my father) had or have had lung cancer.  I make the fourth generation that we know of.  I have a cousin currently tracking lung nodules.  I want to just take the good news and run but it’s hard to accept.  I never smoked, I’m 43 and didn’t live in the same state as my dad or any of his family (which removes the environmental similarities).  When I pressed the doctor on how that could be he said that a family can be genetically predisposed to getting cancer but not have any mutations in their DNA that cause that predisposition.  He said some families are predisposed to diabetes but there is no genetic mutation causing it.  Some are predisposed to baldness but there are no mutations causing it.  I’ve requested an appointment with a geneticist to try and better understand this.  I really want to know if there is definitely no mutations or if they just aren’t able to identify them all yet.  I really want my cousins and kids to be able to take a test to see if they are predisposed.  With no mutation to test for they are left with just having to assume they are.  

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??????!!!!!! My reaction.  Curt- you’ve got little kids so this is worth exploring further.  None of this makes sense to me; I’m wondering if you need a second opinion with an EGFR guru.  Keep pushing! 

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Curt,

You've asked a tough question and I am not a doctor or scientist. But I'm going to poorly paraphrase the words of Dr. Siddhartha Mukherjee who wrote a scholarly book about cancer called The Emperor of all Maladies.  It is likely available at your local library.  Moreover, it is the subject of a 4 part PBS series that may be available online.  

Dr. Mukheriee professed that cancer is a disease of our genes. As I understand him, each one of us has every form of cancer in our genes. For those of us who become afflicted with metastatic cell growth (cancer), something triggers the cancer gene to activate. That "something" is the topic of lots of research. His book goes into lots of detail about mutations and why they occur in some and not others and how they lead to turning on hyper cell growth. Perhaps Mukheriee's book may give you insight.

Stay the course.

Tom

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  • 3 weeks later...

No mutations here either, although everyone on my mom's side died of cancer, back to great grandmother.  The good news here is this will not be genetic to my kids so they say.  However, every single cancer in the family has been different.  weird huh

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Hey Curt,

I have no cancer on either side of my family (the blood related ones, not the in-law kind), but I have a genetic mutation.  I was told this is an "acquired" mutation, not something I was born with.  I'm also a never smoker, so how on earth did I acquire this mutation?  No one knows, but I'm told my mutation is very common among female, non-smoker, young-ish people, so apparently it's trendy for folks like me, so I must've figured, oh yes, I'll take it! 😉😜

Enjoy your weekend!

MB

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  • 2 weeks later...

Curt - my husband doesn’t have any genetic mutations as well. He’s just had a metastatic recurrence and I have requested, which they were going to do, his new samples from his latest bronchoscopy/EBUS procedure re-tested. I’ve been doing a lot of research on course of action with no genetic mutations and there are some immunotherapy drugs out there that hopefully he will respond to. That is our new prayer! 

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