Genetic testing...does anyone have the CHEK2 gene mutation?

Posted by sandyjr @sandyjr, Sep 17, 2019

I have had bilateral breast cancer. According to my genetic test, I do not have the BRAC1 or BRAC2 mutation...I have the very rare CHEK 2 mutation. Has anyone had this mutation? If so, what was your plan of action?

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Profile picture for teddyboy23 @teddyboy23

@leeannaw I also have the CHEK2 gene I'm pretty sure my mum and 2 of her sisters and brother had the gene multiple cancers of Breast, Bowel, bladder cancers.
My Grandfather probably had the gene also he had Bowel Cancer.

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@teddyboy23, did you recently find out you have the CHEK2 gene mutation? What, if any, additional monitoring do you do knowing this?

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Profile picture for leeannaw @leeannaw

I just received genetic testing that I have the CHEK2 gene. I had breast cancer 10 years ago. I’m not sure what to do at this point about the diagnosis. I have 2 daughters in their 20’s and a son in his 20’s.

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@leeannaw I also have the CHEK2 gene I'm pretty sure my mum and 2 of her sisters and brother had the gene multiple cancers of Breast, Bowel, bladder cancers.
My Grandfather probably had the gene also he had Bowel Cancer.

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Profile picture for dianamiracle @dianamiracle

I had stage 1b pancreatic and metastatic breast cancers. I have other mutations as well. Changing my diet has helped me get thru this along with chemo, surgery, radiation, chemo. I also do acupuncture and take certain supplements to strengthen my immune system.

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May I ask what supplements you take to strengthen your immune system?

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Profile picture for sandyjr @sandyjr

I am definitely giving thought to having a bilateral mastectomy and getting reconstruction. The second breast cancer nearly put me over the edge. Thank heavens all I had for both cancers were lumpectomies and radiation… No chemo. If I get it again I have a good chance of getting chemo and losing more lymph nodes which would set me up further for lymphedema. Also if I got it again I definitely would have a mastectomy. This is weighing very heavily on me. I have two daughters and one of them has been tested for it and does have the gene mutation. Unfortunately she is also very sick with Crohn’s disease and PSC which is a bad liver condition that is fatal. Since the CHEK2 mutation also can affect colon cancer, she figures she’s in trouble to begin with with the Crohn’s disease and now this. She is 44 and says she will have a prophylactic mastectomy when she gets her health back in order after this last Crohn’s surgery. I do not know if my other daughter has pursued the possibility of getting the genetic testing. I gave her all the information she needed and explained it to her and I am hopeful that she will move on it, but she is an adult and needs to make her own decision without mommy hammering at her. This has been a real strange experience. If I had known this after my first breast cancer I would’ve definitely had The double mastectomy after my second breast cancer. There was 11 years between the two cancers. Even though I am pushing 70 I just don’t feel like I want to be bothered with cancer again. So that is where I am right now. I feel very confused and definitely do not want to have the surgery but know that it is probably the best thing for me. If I have this surgery there is a 90% chance that I will not get breast cancer again. Just to wake up in the morning and not think about having cancer is huge to me. I would appreciate hearing your thoughts of how you are thinking about dealing with it. Thanks for your comments.

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Hello, It's been a few years but I'll give it a try. I recently tested positive for the Chek 2 genetic marker. My mother died from breast cancer at 61 in 1988. She had been cancer free for 8 years, a year or two of treatment, and her cancer was quite advanced when found. She was younger than I originally thought. I am 67, in good health, with no signs of cancer now but concerned about future. Double mas has been mentioned. Any thoughts?

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Profile picture for Zebra @californiazebra

Which area(s) does your annual MRI cover?

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Yes. Breast MRI.

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Profile picture for Zebra @californiazebra

Which area(s) does your annual MRI cover?

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@californiazebra
Just a breast MRI.

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I have the CHEK2 mutation. I have recurrent breast cancer but I also have the BRCA2 mutation. My son also has both mutations. Keep up with all your routine checks. I also have lung NETs but unrelated. So many different cancers in my family but no colon or thyroid that I know of. My cancers are being managed and I’m still enjoying life so don’t lose hope or feel doomed.

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Profile picture for cjs123172 @cjs123172

The current standard of care for the CHEK2 mutation is to have a yearly MRI and also a yearly mammogram (six months apart). Otherwise, treatment is not different for breast cancer. Colonoscopies should be 5 years apart, not 10, since CHEK2 has a slightly higher risk for colon cancer. But that’s it!

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Which area(s) does your annual MRI cover?

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Profile picture for Lisa, Volunteer Mentor @lls8000

@mchler73, I was identified as having the CHEK2 gene. My mother does not, so we believe that it came from my father’s side.
The genetics team that I spoke with noted that my CHEK2 has a “Low-penetrance”, making something that they are not concerned with, and they do not believe that it had an influence on either of my cancer diagnoses (breast and lung). Your genetics team should be able to provide you with additional info too.

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@lls8000
That is great information! Thank you, I will check into it.
My mom had Melanoma, my dad had Prostate cancer and his father died of Colon cancer so I’m leaning towards it being from my father’s side but….??

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Profile picture for mchler73 @mchler73

My oncologist explained that my Genetic test shows I have CHEK2 Mutation and said it can be linked to breast, colon and prostate cancers.
Anyone else have this?

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@mchler73, I was identified as having the CHEK2 gene. My mother does not, so we believe that it came from my father’s side.
The genetics team that I spoke with noted that my CHEK2 has a “Low-penetrance”, making something that they are not concerned with, and they do not believe that it had an influence on either of my cancer diagnoses (breast and lung). Your genetics team should be able to provide you with additional info too.

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