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Jay Lake
Date: 2012-12-06 05:23
Subject: [cancer] In which we discover that I am in fact a mutant
Security: Public
Tags:cancer, health, personal, weird
My oncologist recently ordered a followup genetic assessment on some of my
existing tumor tissue. We did not discover any recently identified clinically significant mutations in my tumor tissue, but a specific rare mutation of unknown clinical significance was found. Specifically, the KRAS A146V mutation. As my oncologist said:
[I]t is unclear how or if this affects therapy. We were really looking for any other targetable mutations as listed and those were negative. We should stay the course.

More detail, per the pathology report, for those interested:
Gene Mutation Significance

KRAS A146V Only ~4% of KRAS mutations affect codon 146. Among 6 reported cases of colorectal cancer with mutations at this codon, none responded to treatment with an anti-EGFR antibody. A pre-clinical study of cancer cell lines harboring a similar mutation (A146T) showed that they were sensitive to a MEK inhibitor and resistant to an EGFR inhibitor. However, KRAS A146V was not evaluated in that study.

They tested a whole ton of gene complexes, which are just a bunch of alphanumeric soup to me. I will note the pathology report commented: "The screening consists of a multiplexed panel of 496 assays that can detect up to 643 different mutations known to occur in the genes listed above."

Living in the future is weird. Being this kind of sick in the future is weirder.

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scarlettina: OK!
User: scarlettina
Date: 2012-12-06 15:14 (UTC)
Subject: Mutations
Then we share our mutant heritage. A little-known factoid about me is that I have one kidney shaped like a fortune cookie. It functions perfectly normally; it just looks like a tasty post-Chinese-dinner treat. (It's apparently a rare but not unknown phenomenon. The ultrasound during which it was found, however, was a mite disturbing. When the technician began to look concerned and stopped talking to me, I jokingly wondered if he'd found the alien baby implanted in my side. When he remained stone-faced and didn't respond, I had . . . shall we say, a moment.)
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User: martianmooncrab
Date: 2012-12-06 19:21 (UTC)
Subject: (no subject)
You are Speshul, the exception to the Rule, and your doctor is at least aware of it and will make sure that you are being treated as so.
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User: fledgist
Date: 2012-12-06 19:28 (UTC)
Subject: (no subject)
An old friend of mine is currently very angry because her husband's (also an old friend) cancer was for a long time undetected by physicians who were monitoring his chronic condition and who, she feels, had him on the wrong diet for years, while insisting that diet did not affect his condition (Crohn's). She feels that if they had been more alert his quality of life would have been better, and he'd still be among the living. We're in the future, but we carry the past right along with us.
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User: mmegaera
Date: 2012-12-07 01:03 (UTC)
Subject: (no subject)
Join the club. We have jackets [g].

(I have a mutation related to, but not the same as, the one that causes a predisposition to COPD, discovered while trying to figure out what turned out to be a Really Big Gallstone a few years ago).
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