genetic tests results

[helen098]

back in summer of 2006 genetic testing was not routinely done.
As i tolerated chemo well (there opinion not mine) haven't had any other problems (fingers and toes still crossed) don't have any children i was told by my onc
that there was no reason to do it. We are aggressively testing and no matter what the results we wouldn't change how i am monitored.
my onc said if i wanted to he would do the test but he thought it was unnecessary
fast forward to 2015 when i hit menopause very hard
12 plus hot flashes a day, irritable weight gain i tried to be brave and strong but when i almost got into a fight over weather i said thank you or not (if you knew me in real life you would know this is total out of character for me) i tried over the counter meds and antidepresents but they all fail
i finally decide speak to the gyno and decide i need to try hormone replacement therapy
she suggests genetic testing to rule any problems and so going forward we will have all the info to decide how long i need the HRT
insurance rejects the test, i have to go for generic counseling takes over 6 weeks to get an appointment then the test is finally done
if i had an extra $5,000 or was filling to pay it over the next 4 years i could have had it on the spot
the results shows no mutation in any genes associated with the Lynch syndrome
they then did a panel of 44 genes (breast, ovarian and other cancers) the results are all negative except
i have a variant that the lab is unwilling to classify with certainty in a gene know as POLE
the paper work says they will keep it on file in the event things change in the future but they suggest checking with the lab every 3 months or with the genetic counselor

i probably wont do this unless there is some news about the POLE gene

i am happy that mo problems were found, i know it doesn't mean i cant have cancer again in the future but it was nice to pass another test
they suggest i have my brothers tested but i don't think i will out paul through another test

anyone else have the pole gene?






,

[jhocno197]

Haven't heard of that one.

[Pita]

I've never heard of it, looked it up and still didn't understand it.
No offense but I don't understand the reason for all of the testing? Will it prevent anything? Take the HRT until you feel better. Good Luck!

[Steph20021]

My POLE gene just came back as a "variant of uncertain significance" also.

Ive had a whack of genes tested (19 relatively newer ones linked with polyposis syndrome(s) including the POLE genes), and still no mutations found to date.

[Steph20021]

i have a variant that the lab is unwilling to classify with certainty in a gene know as POLE
the paper work says they will keep it on file in the event things change in the future but they suggest checking with the lab every 3 months or with the genetic counselor

i probably wont do this unless there is some news about the POLE gene
...
...
anyone else have the pole gene?

Helen, I revisited my report again today and my POLE variant of unknown significance was that a proline changed to an arginine. May I ask what your variant was?

[Maia]

Cancers harboring POLE mutations are good candidates for immune checkpoint inhibitor therapy. So, if needed, have that on mind.

Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency - May 2017 http://www.croh-online.com/article/S1040-8428(16)30315-8/fulltext of http://www.croh-online.com/article/S1040-8428(16)30315-8/pdf --full article--

http://www.cinj.org/immunotherapy-respo ... e-mutation

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887167/

[mariane]

Steph, what Maia just posted may be the game changer for you.
IMO it is very important info to discuss with your oncologist.
Sorry for interferng.

[Steph20021]

Steph, what Maia just posted may be the game changer for you.
IMO it is very important info to discuss with your oncologist.
Sorry for interferng.

Hi Mariane, thanks for the heads up, but I don't have a POLE mutation unfortunately. It was explained to me that it's just a variant, which is different apparently. one amino acid changed to another, and this variant hasn't been shown in research one way or another to be either benign or pathogenic.

[Hannah Faulkner]

Never heard of this one before....

[helen098]

my report says pole Variant unknow significance
the doctors report says I have a variant that the lab is unwilling to classify with certainty in a gene know as Pole.

Last year when I mentioned it to my oncologist and colon doc nether was familiar with it.

I need to go for a check up soon and am looing for a good colorectal surgeon at NYU was does colonoscopies.
anyone know ant good ones? I have a few names from other doctors but no personal recommendations.
will mention it to whoever I see

[helen098]

I am still taking the HTR for the hot flashes
tried to stop it a few times and was unable to function

will try to stop it again in the fall