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...what ambivalent news...both good and bad. Bad because of the elevated potential risks, but good in that they're now known additional risks. Knowledge is power, and I've never been much of a fan of the old ostrich with the head in the sand approach myself. Know the danger...see the danger, avoid or outrun the danger...much better plan. Sending the biggest (((HUG))).
- Oh @kmakm, bloody hell. Words fail me at the moment except to say hang in there special lady xx
- @kmakm We have never met but I feel as though the women here are my sisters (or maybe closer than that). I am in tears as I read about your tears. Huge hugs. I am pretty certain the other women here feel the same. If you need me for anything just let me know, I am not far away. I make good chocolate truffles! They may not fix anything but sure do make you feel extra good, especially some of them! Love Melody
- I got the results of the test today. I have the CHEK2 gene mutation.
This places me at an elevated risk for breast cancer, colorectal and thyroid cancer. If I was male it would also put me at an increased risk of prostate cancer.
It's another reason to put in pro-column for the double mastectomy. Albeit in hindsight. I don't know how it affects my chance for a recurrence in the residual breast tissue I have. I'll have to talk to my BS about that I imagine. I'm seeing him in January so it can wait until then.I'll go and talk to my oncologist early next year and get her advice on screening for thyroid & colorectal cancers. Yearly colonoscopies maybe. No idea how they screen for the thyroid. Ultrasound?
Would it be simpler to have a comprehensive scan once a year? An MRI or PET scan? Is this positive test enough to elevate me enough into increased risk territory to get an subsidised MRI?
All the kids will have to consider whether they want to get tested for the mutation. It will affect them in their lives. Only one of them is currently legally an adult. But at 19 he can have no idea what it all means.
The geneticist failed to suppress his excitement at the first CHEK2 mutation positive family he's come across. He was perfectly professional but it leaked through.
My mother has it, and my remaining sister doesn't. So with the information that I do, she is relieved of the decision to prophylactically remove her breasts. So that's good.
We're so special... - @Kmakm, thanks. I read somewhere it cost in the vicinity of $5k to 10k. I thought that ruled me out. I will ask the question. I will let you know what he says.
- @Sister thank you. My Grandmother died at 49 from throat cancer and then Mum at 39 from BC. 29 was a helluva year for me let me say. I also considered not having children back when I was 23 after watching what my Mum went through with chemo etc. Glad I had a change of heart. Now have 4 beautiful children all adults well they think they are haha.
They are all living independently.
I thought they would be more supportive but they seem to be avoiding me atm. They speak over the phone but come up with a myriad of excuses of why they can't visit me. Sucks really. They are all busy working different hours etc I get that but that's the only thing that gets me down. I think it's the extent of emotion that they find hard to deal with. Lucky I have lots of friends, my Sister and my partner to help me. I am going to ask the onc about the test tomorrow. - @Suzi_S61 As @Sister says, testing can be completely subsidised if you meet certain criteria. Otherwise it can be very expensive. The testing I'm doing is not for the main players (BRCA1 & BRCA2 and a handful of others), but for a gene mutation. My sister had the testing for main ones before she died and none were present. The test I'm doing now costs $400, plus the cost of the consultation fee.
The process takes four to five weeks.
I informed my new oncologist I was doing the test when I met her for the first time a couple of weeks ago. She knows the geneticist and said he was good. I'm doing this testing for my remaining sister, and the onc didn't express any concerns. If it comes back positive I will certainly make an appointment to discuss it with her.
Generally speaking I don't think one family member with breast cancer raises any flags. It's just so common. However I would have thought your mother's age at diagnosis would have warranted discussion. Ask your oncologist next time you see him/her and let us know how you get on. I don't think you'd be the only one in this situation. K - @Suzi_S61 I had one of the genetic tests - the one that tests for just the major players, and due to family history, it was free. My sister was diagnosed with BC at 32 and died at 45. I also had a cousin who died in her 50s of cancer (but I don't know what type). This qualified me to get the test completely subsidised.
- @kmakm, can I ask if it's expensive to get a genetic test? only if you don't mind sharing. How long do the results take? Did you discuss that test with your oncologist? I am surprised no one has asked me about it yet considering my Mother died from BC at 39 years old.
- I'm reading a book at the moment...fiction but self-help at the same time...
"Got to stop feeding your rats"
I like the analogy. Everytime I setiously think negativity about myself I'm going to pull that out.
