Thank you for the links Mad Med, most of the information I'm finding are in relation to this mutation as it pertains to ovarian and breast cancer treatment, and not how it might be impacting my treatment as a CRC patient.
Peregrine - thank you again for so many helpful resources. After my inquiry to the onc. about tumor profiling he ordered two different testings. There was original testing after colonoscopy showing showed no loss staining for DNA mismatch repair proteins (MLH-1, PMS-2, MSH-2, MSH-6 ), unlikely MSI.
The GI ordered a C-Reactive protein blood test prior to colonoscopy which is not the CEA, that CRP test came back normal. I'm not sure if the onc, was assuming CEA might not be a tumor marker for me, but it should have been ordered.
Additional Testing for PD-L1 = <1% staining at any intensity HER-2 = 2+ FISH was negative for HER-2 in tissue sampled.
Other testing:Variant Allelic Fraction (Tumor) Allelic Fraction (Normal)
RAD51D R206Ter 48% 50%
Somatic variants detected in the tumor:
Variant Allelic Fraction
TP53 R175H 25%
KRAS G12V 17%
I'm well aware the variant's in this testing are not good - the KRAS G12V was probably the worst KRAS to have. I'm not sure why he ordered the extensive testing, my insurance paid for it - I was adopted so had no familial history going into this, maybe that's why? I will get the genetic counseling, more for how this could affect my daughters ( don't think it will affect my son) for ovarian and breast cancer. I've had a hysterectomy in late 2020 (ovarian cyst - benign, ovarian fibrothecoma which is a benign rare ovarian tumor )(surprised they didn't see this rectal tumor on MRI then, even though they weren't looking for that ),
The radiation oncologist brought up the RAD51 as a possible explanation for both the responsive tumor shrinkage after my scans and also the quick response to toxicity to my liver, I am concerned that 1, it limits the chemo that will work for me, and 2. will I be able to tolerate it, 3. does my oncologist have any experience treating people with CRC with this mutation if it affects how I react to the Folflox.
I don't get much feedback from the onc., I just don't think he is telling me things that I shouldn't worry about NOW, but I look at everything pretty negatively, and I look to have all the possible scenarios laid out, good, bad, and ugly.
I'm not sure if the genetic components of my disease will be the driving factor for reoccurrence and short survival, or if it's the amount of disease currently in my body, (which for now is resectable ) but it seems every time there is something new being thrown at me that doesn't sound good, I feel going through treatment is pointless and very discouraged. I was looking at MSK in NYC as a place to seek out a second opinion, Dana Farber is doable to. There are so many good cancer hospitals in NYC and Boston which I can get to both. It's not an affordable situation with insurance so....I think getting a consultation anyway is necessary.
2/22 - Dx with stage 4 rectal cancer 4cm on/1cm from AV - age 60
T4, poorly diff., EMVI + MSS
3/22 - CT/MRI 2 liver mets 2.1 cm and 1 smaller close to hepatic vein
3/22 Infusion - plan 6 treat. Folflox 6, liver res., chemoradiation, rectal surgery 6 more cycles Folfox
5/5 - CT/MRI, lung nodules no change, liver lesions red. to 1.1 and .9cm, rectal tumor/suspicious lymph node red..