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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cjs123172 | @cjs123172 | Oct 7 4:45am

In reply to @californiazebra "Which area(s) does your annual MRI cover?" + (show)

Yes. Breast MRI.

ruthless | @rmleau | Oct 24 8:22pm

In reply to @sandyjr "I am definitely giving thought to having a bilateral mastectomy and getting reconstruction. The second breast..." + (show)

@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?