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
- @kmakm Kate, haven't been on for a while so just read this. But you've been on my mind lately hoping that all was well for you. More so since things are really good for both hubby and myself with one year all clear for both of us.
So...What a bummer. Life can be so unfair at times and you've had more than your fair share. Mum had bowel cancer in 2011 so off i went for a colonscopy. All was good till the next one when a small polyp was found...nothing dodgy but come back in 3 years instead of 5 😤 so that will be next year. Plus it's a good opportunity to make sure my Crohn's hasn't reared its head. Mum still has yearly ones as they keep finding polyps, all benign. The worst bit is the prep beforehand. Mum also has an under active thyroid which is controlled through medication.
It's good that you got the test done. The more knowledge the better able you are to make informed decisions. Keep going with gym, it'll give you something else to focus on and it's something you can control. At the moment we are at our home in Tawonga South and i have just taken a photo to share...if i can figure out how to post it!
Ok figured it out! Feast your eyes on Mt Bogong and let the calmness of the scenery wash over you. It does it for me every time. Hang in there Kate. Lots and lots of hugs, Cathxx - @tigerbeth, yes please. I am in Geelong and would love to meet up with you ladies. I have just bought the ingredients for truffles.
- Well @kmakm can't find the words to comfort you as this is must be overwhelming .
i guess you can now be proactive ,as the others have said knowledge is power .
Hope you enjoyed the chockies & gin Kate !!
Have been thinking we should have a get together with some lovelies from Melb/Geel/Vic at some stage !
Hugs xx - Thanks @Sister.
- @j9k Thank you for that; I enjoyed your philosophy! I have bowel cancer in the family on my father's side. My aunt died from it and my grandmother had, and my father has, a lot of polyps.
I've had Hashimoto's, an underperforming thyroid, since I was 37 when I was diagnosed and have been taking thyroxine ever since. So I already have an annual blood test for that.
I agree, knowledge is power and I trust that one day I will sit more easily with it as you say. At the moment it is yet another blow, and I dread the scanxiety... Big hug to you. K xox - If there is one thing this bloody disease has taught me @kmakm is that not knowing doesn't change the outcome, it may just make it worse. The genetic testing really is a minefield though, isn't it? I didn't test positive for anything but the geneticist is pretty sure that's just because they don't yet know what to look for. Not really helpful.
I hope you enjoyed your G & T and chocolates. My thoughts are with you. - Feeling for you @kmakm. <3 I had the BRCA test (-ve) , but with bowel cancer in the family (both father and aunt died of it) I decided to get chek2 done as well. I've got about 3wks to wait for results. I had thyroid cancer last year, 12mths before my 3rd BC in May this year. I had already been having regular colonoscopy because of family history, now monitored by thyroid cancer specialist as well as my ongoing BC monitoring. I have had L & R Mx. It is very worrying but I hold onto the hope that if I know to be vigilant, I can get the jump on anything that appears. I already have the worry, but if chek2 is confirmed, I will be very very vigilant. I have regular thyroid blood test, as @primek mentioned. There are specific markers as well as hormone levels that are checked. I am on thyroxine as all my thyroid was removed. It always feel like so much to think about and medical appointments are prolific. But I couldn't stand not knowing for sure. So whilst I wait with great apprehension about the result, if it's positive, I will know I'm doing everything I can to be around for as long as I can and minimising the chance another cancer will sideswipe me. Definitely knowledge is power. Scary, but powerful. You have given yourself as much control as you possibly can. This is all very philosophical for me until I get my result. Red wine and chocolate for me if it's +ve. You have made it through so much already. Even if it takes some time before you can sit more easily with this, you will do so. Strength to you. Xx 💜
- @primek Thanks Kath.
- Hi @kmakm I might need to contact my genetic counsellor to check we were screened for chek2. I don't believe so. Now with thyoid cancers...the thyroid goes haywire....so just regular thyroid blood tests...annually and ultrasounds if any lump, bumps or feelings of thick throat or swallowing difficulties or pain. Colorectal...annual poo check and possibly 5 yearly scopes. But referrals to various specialist for advise starting point. Kath x
- Thanks @arpie.
