daisy1963
Posts:41
Mom has EGFR mutation. Can we be tested? New to this and haven't seen whether this is a gene mutation that we could or should be tested for.
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Mom has EGFR mutation. Can we be tested? New to this and haven't seen whether this is a gene mutation that we could or should be tested for.
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Reply # - May 29, 2013, 07:39 PM
Reply To: New to EGFR. Can family members be tested?
Hi daisy,
Some patients have been identified as having an inherited T790M mutation (which makes cancer cells resistant to EGFR TKI treatment, but it's still considered unusual. As Dr. West said:
"I have heard that there are a few people identified out there in the world who share your situation. I don’t think we have a good sense just yet how uncommon to rare or extremely rare it really is. I hope to learn more over time." - http://cancergrace.org/topic/inherited-t790m-mutation#post-1245334 (A good discussion follows in the rest of that thread).
So at this point it's not clear whether there would be any value in having family members tested, especially if a T790M mutation was not detected in your mother's cells.
You can also take a look at this link: http://cancergrace.org/lung/tag/inherit-trial/
JimC
Forum moderator
Reply # - May 29, 2013, 09:09 PM
Reply To: New to EGFR. Can family members be tested?
At this point, it's not a standard thing to do. There's a post with a video by Dr. Oxnard about genetic testing:
http://cancergrace.org/lung/2013/02/22/inherited-t790m-mutation-oxnard/
This really applies to detection of a resistance mutation, not the more common activating EGFR mutation that your mother probably has.
Good luck.
-Dr. West