Genetic test result question

[Bears_fan]

This is my first post to the group after closely following for the past couple of years. In June 2021 I had my my tumor genetic tested by Foundation for mutations. The results came back saying that no significant mutations had been detected. Fast forward to today when I received the results back from a COLOR genetic test on a saliva sample. In this test they reported finding a CHEK2 mutation. I did the COLOR test as part of the Promise study. So the question is shouldn’t both genetic marker tests detect this mutation? Since CHEK2 is hereditary I would think any sample whether tumor, saliva or blood would reflect this mutation. Thanks for any help on this question.

[Tall_Allen]

That is strange. You may want to call Foundation One and discuss it with them.

[Bears_fan in reply to Tall_Allen]

Thanks for the response. I am also going to discuss with my MO.

[tango65]

This is a complex subject. My understanding is that it could be possible depending on what variants of CHEK 2 mutations were studied in each test, There are multiple variants of CHEK2.

ncbi.nlm.nih.gov/pmc/articl...

[Eugmn]

I had this happen to me. Did a submission last year to foundation. It came back saying nothing discernible detected. Now after a year or so with a PSA rise my doctor wanted to try again. Submitted to foundation last month. It came back showing CHEK2. Both of my submissions were blood samples.

[Rolphs]

Are you of Eastern European descent? I have CHEK2 mutation also and relatives from Poland. When I become castrate resistant my MO is considering a PARP inhibitor like Olaparib. Another tool in box.