Forum Discussion
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 increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%.
Well aren't I glad I've had a bilateral mastectomy...
And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k...
So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration.
She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't.
The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues.
It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November.
The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year.
If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed.
Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc.
If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for...
This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis...
And now I'm consoling my still wet eyed self with a café lunch and there's a revolting couple refusing to control their toddlers who are literally screaming, running around and banging on the windows. When my kids were that age if they behaved like that they were packed into the pram and taken home. I only had to do it once with each kid. They never did it again because I don't do empty threats.
Hurrumph. I am grumpy as f**k.
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 increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%.
Well aren't I glad I've had a bilateral mastectomy...
And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k...
So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration.
She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't.
The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues.
It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November.
The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year.
If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed.
Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc.
If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for...
This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis...
And now I'm consoling my still wet eyed self with a café lunch and there's a revolting couple refusing to control their toddlers who are literally screaming, running around and banging on the windows. When my kids were that age if they behaved like that they were packed into the pram and taken home. I only had to do it once with each kid. They never did it again because I don't do empty threats.
Hurrumph. I am grumpy as f**k.
107 Replies
- Such a relief , Kate! And you are special, just in lots of better ways. And yes, arpie, you're right, being asleep is the easy bit, but that prep!! My one is next year 😣
- Well done, @kmakm - he sounds terrific & able to allay some of your fears. Oh, fun fun (NOT) the colonoscopy!! The procedure is a breeze (you are asleep!) but the preparation in the 24hrs prior is such a pain!! I have regular ones as I had a scare a few years back .....
So your sister's kids will need to be tested at some stage too? Is their Dad in the picture? Is he aware of the gene thing? - What a relief @kmakm ! xx
- @Sister Exactly! Perfectly put as usual. A big deal but not the biggest. K xox
- Such a relief, @kmakm You know what's going on and yes, it's a big deal, but not the biggest!
Always knew you were special! - 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. - @Sister It does indeed. And retrospectively backs the BMX decision even more.
- They do like to downplay the recurrence bit, don't they? The CHEK2 gives you an explanation, now.
- @mum2jj That's the plan.
- Like early BC, Even if it does recurr it can still be caught early and be treated. Mine was and that was almost 8 years ago. Practically all your breast tissue has gone so that’s a plus too. Be vigilant and live your life. You have done all the right things.
Paula xxx
