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, just catching up as don’t get into the main forum too often. Bugger that you are positive. Life sure does throw us some curved balls... yours just a bit more curved than some. Ok pros definately that you did the right thing with the double. Also as you said at least you know and can be in the lookout. It doesn’t make it any easier for you.
Huge hugs
Paula xxx - @Emim Primarily I did it for my remaining sister, but there is benefit in knowing, especially for the kids. Hard, but potentially life saving.
- Thanks @kmakm and @j9k. I don't have children, and won't be having them now, so I don't have that worry. Other members of my family have started wondering.
It is something to think about as on the one hand if a gene was identified it would be a challenge to come to terms with what it meant, but then on the other not knowing is difficult too.
I feel for you @kmakm - it must be difficult dealing with your results and what it might mean for you and your family, even though you wanted to know. - I had the Braovo??? test and due to my sister having bc young and a cousin having cancer, I got it free and I'm pretty sure it did include the Chek2 as the geneticist went through that one.
- @JJ70 Thanks love. K xox
- <3 Kate.......just plain sucks.
- You're bang on the money there @j9k. It's taking quite some getting used to. It's going to take a while to come to terms with.
- @Emim my BRCA testing didn't cost anything (or relatively little - my memory is poor 🙁) . I did a questionnaire with the geneticist and met the criteria for that. I had the blood test done at QML and had the results within a couple of weeks. The CHEK2 was a separate option and I think I paid about the same as @kmakm. I'm about 2weeks out from getting those results. BC blindsided me at age 38, again at 42, and again in May at age 51. I had thyroid cancer at 50. I have bowel cancer in my family and I can't stand the idea of being blindsided again. It's terrifying not knowing what might come next and will be terrifying to know what might be ahead if I test positive for a gene. But I think I would rather know so I can do whatever I need to do to try and stay ahead of it. I felt powerless when I was diagnosed, I hope this brings some of my power back, to balance my fear. More important than me is my son. I want to have that knowledge so he knows to be vigilant. It may take some time to come to terms with a positive gene result. But I feel I need to take that step. Take a little time to think if it's right for you. You've been through a tough time. The cancer in your family would be concerning for you . You can discuss family history and your diagnosis with the geneticist. You don't have to decide right away. And you may decide not to proceed, but that discussion will give you the information you need to make your decision. Take special care of yourself. Let us know how you go. 🙂 🌸
- @Emim It's such a new frontier. The most common known genetic link are the BRCA1 & 2 genes. There are a number of others which are quite rare. My sister was tested in 2014 or 2015 for the BRCAs & Li Fraumini, but the CHEK2 mutation test has come about since she died.
I don't know what the costs associated with the BRCA genetic testing are. I saw a private genetic counsellor and the cost for the test was $400.
With your family history it sounds like it would be worthwhile. Do you have children? There are implications. It's complicated eh? Let me know how you get on. K xox - I came across this thread and think I will look into genetic testing and will ask if it can include CHEK2, as there may be a family history on my father's side. My paternal grandmother died from cancer at 53 - the family is not sure if it was breast cancer or potentially pancreatic cancer due to lack of testing at the time (in the early 1970's). Two of her sisters had breast cancer when they were older. Her daughter (my aunt) had breast cancer at 41 in the 1990's, and again in her early 60's in the other breast (5 years ago). She also has Hashimoto and an underachieve thyroid. She also had pre-cancerous cells identified by a colonoscopy. My sister also has Hashimoto's disease and my father has had a lot of polyps. There has also been breast cancer in my father's cousins on that side of the family. I was diagnosed with breast cancer this year at 41. My surgeon after hearing my family history referred me for genetic testing, but I haven't chased it up yet, as I was focussed on getting through chemo. Now that has finished I will look into it again.
