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.
Genetic test result question - Advanced Prostate...
Genetic test result question
That is strange. You may want to call Foundation One and discuss it with them.
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.
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.
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.