CHEK2... my genetic plot thickens?
Today I went to have genetic testing for the CHEK2 gene mutation. Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to ...
Forum Discussion
I had my appointment today and it was fantastic. The doctor I saw (a professor) was so generous with his time. I think we talked for about an hour and a half. He answered all my questions and we had some interesting small digressions along the way (most notably the use and subsidising of MRIs...).
First and foremost, having the CHEK2 gene mutation does not increase my chance of a recurrence. I didn't realise how much I was stressing over this until he answered this question and I could feel my whole body exhale. Such a relief.
My particular version of the CHEK2 mutation is very rare. The Peter Mac Familial Cancer Centre has 80 families on the books with the main CHEK2 mutation, but off the top of his head, the Professor thought we could be the only one with mine. I always wanted to be 'special' but this isn't what I imagined...
Simply put, it acts as a compounder of risk, not a risk factor on its own. It interacts with other genetic and/or environmental risk factors of a number of cancers. So when the cell is made incorrectly, because of the CHEK2 mutation, it doesn't get corrected. Given that three women in my family have had BC, there is some other factor involved. Without the CHEK2 mutation, we may have got away without getting BC.
The risk factor for the other cancers (colorectal, urethral, bladder, kidney, ovarian and thyroid all get a mention, though breast and colorectal are the only ones definitively proven at this stage) sit in the moderate range. And within that it's a sliding scale of low to high, depending on the other factors. So given that bowel cancer is strongly in my father's family, my risk for that particular horror is considerably higher than average because of CHEK2. A colonoscopy is in my near future... As for the others, I'll be adding a urine test to my annual check-up, and a physical thyroid check by the GP. As effective as an ultrasound the Professor said. So thankfully not too onerous a surveillance regime (with the exception of the colonoscopies). I don't have to live my life on a treadmill of tests and scanxiety.
Of most interest was how it affects my kids, who all have a 50/50 chance of having the mutation. The good news is that they really only need to start worrying about these cancers when they normally would (so a bit earlier for breast and colorectal), or at the point when they are having children, when if they've tested positive, they can have an in vitro procedure to remove the possibility of the mutation being passed on. And hopefully by then we will have come up with a whole bunch of cures! The Professor described that as "relying on The Future".
He said that having a conversation like this was quite a novelty, the science and understanding is so new. I asked if there was anything I could do to help and he said we'd love to add you to our cohort for a number of studies, if I could face another blood draw. Sign me up baby. I'll do anything I can to help cure this bloody disease. So I tootled up the glamorous white spiral staircase and gave them 8mls!
There was a lot more but that's enough for now. Excuse the length, but I wanted to leave a bit of detail for the next CHEK2 person to come to the forum. I feel good finally having all the information. Onwards and upwards.
First and foremost, having the CHEK2 gene mutation does not increase my chance of a recurrence. I didn't realise how much I was stressing over this until he answered this question and I could feel my whole body exhale. Such a relief.
My particular version of the CHEK2 mutation is very rare. The Peter Mac Familial Cancer Centre has 80 families on the books with the main CHEK2 mutation, but off the top of his head, the Professor thought we could be the only one with mine. I always wanted to be 'special' but this isn't what I imagined...
Simply put, it acts as a compounder of risk, not a risk factor on its own. It interacts with other genetic and/or environmental risk factors of a number of cancers. So when the cell is made incorrectly, because of the CHEK2 mutation, it doesn't get corrected. Given that three women in my family have had BC, there is some other factor involved. Without the CHEK2 mutation, we may have got away without getting BC.
The risk factor for the other cancers (colorectal, urethral, bladder, kidney, ovarian and thyroid all get a mention, though breast and colorectal are the only ones definitively proven at this stage) sit in the moderate range. And within that it's a sliding scale of low to high, depending on the other factors. So given that bowel cancer is strongly in my father's family, my risk for that particular horror is considerably higher than average because of CHEK2. A colonoscopy is in my near future... As for the others, I'll be adding a urine test to my annual check-up, and a physical thyroid check by the GP. As effective as an ultrasound the Professor said. So thankfully not too onerous a surveillance regime (with the exception of the colonoscopies). I don't have to live my life on a treadmill of tests and scanxiety.
Of most interest was how it affects my kids, who all have a 50/50 chance of having the mutation. The good news is that they really only need to start worrying about these cancers when they normally would (so a bit earlier for breast and colorectal), or at the point when they are having children, when if they've tested positive, they can have an in vitro procedure to remove the possibility of the mutation being passed on. And hopefully by then we will have come up with a whole bunch of cures! The Professor described that as "relying on The Future".
He said that having a conversation like this was quite a novelty, the science and understanding is so new. I asked if there was anything I could do to help and he said we'd love to add you to our cohort for a number of studies, if I could face another blood draw. Sign me up baby. I'll do anything I can to help cure this bloody disease. So I tootled up the glamorous white spiral staircase and gave them 8mls!
There was a lot more but that's enough for now. Excuse the length, but I wanted to leave a bit of detail for the next CHEK2 person to come to the forum. I feel good finally having all the information. Onwards and upwards.