Tested positive for chek2

Pia1955

Yay, I was just informed that I tested positive for the chek2 mutation! Lucky me. Anyway, my genetics counselor recommended yearly MRIs, mammograms and ultrasounds to deal with this. When I asked her about choosing to undergo a prophylactic bilateral mastectomy instead of being subjected to these tests and the resulting stress, her response was "mastectomies don't effect your overall survival in this case". Has anyone else been told this? It makes no sense to me, since those who test positive for the BRCA mutation are advised to undergo mastectomies and ovary removal thus significantly reducing their risk for cancer. Why wouldn't it be the same for a chek2 mutation? Frankly, I found the two genetics counselors I encountered to be cold fishes and not especially caring human beings so who knows? Anyway, I hope some kind people on this site can enlighten me and/or tell me about their experiences with this wonderful gene mutation. Thanks so much!

Moderators

Hi again Pia,

We're sure you'll get some good responses here soon, but we wanted to suggest perhaps a second opinion from another genetic counselor would help you make decisions? There's also some good information on this page from the main Breastcancer.org site on Testing Positive for Less Common Gene Abnormalies that you may find helpful.

We hope you get some insight soon!

--The Mods

tmac22

I found out the same wonderful new about 4-5 years ago. Unfortunately with this gene mutation there isn't as much research done at this time. So more difficult to get concrete information. I immediately went to see a breast health doctor who really knows more about BC options and risk reduction than a geneticist. The options she gave me were 1) monitoring - annual MRI's and mammograms spaced 6 months apart. Hopefully they'll be able to catch any potential cancer early. 2) Prevention - Complete mastectomies 3) Prevention - DMX with immediate reconstruction. She said the DMX would cut my risk of BC by 90-95% over my current risk. This falls in line with what those who have the BRCA mutations are told as well I think?

After much thought and research, and the fact that my mother's BC spread to her lungs even after catching it really early, I decided to have the surgery. I'm going in next month to have preventative DMX with immediate DIEP flap reconstruction. Of course the option you choose may be completely different, it's a very personal and individual decision - you have to do what you feel is right for you.

I would definitely find another geneticist to talk to, as well you should see a breath health doctor too. The more information you can get the better you can make a decision about what is right for you. Good luck!

Pia1955

Hi tmac22,

Thanks so much for replying to my comment. I wish you luck with your surgery! When you have a chance, would you please let me know how your surgery went and how you're recovering? I am seriously considering DMX with reconstruction as well. I'm terrified though!

I do see a breast surgeon, who is wonderful and have an appointment with another genetics counselor in February.

Thanks for the information and support, and again, good luck with your surgery! I am hoping for a speedy recovery for you!

stephincanada

Hopefully you were prescribed colonoscopies every two years. My mom has the check2 mutation.

Arya44

Hi, joining this thread because I had bilateral breast cancer so had genetic testing done after the surgeries and found out I had the check2 mutation. Still pretty baffled with this development seeing as there is no breast cancer in my family history. I had bilateral mastectomies with reconstruction before I knew about the mutation so it feels validating that I made that decision.

Stephincana, so you had breast cancer but your mom had the mutation and not you? I've learned that there is a 50/50 chance of getting the mutation if one of your parents has it.

Niecie

Dear PIA1955,

I am HER2+ PRO- and CHEK2+

All of the Doctors that I have been to, including Genetic counseling, have recommended Bilateral mastectomy.

I would keep asking questions until you are satisfied that you are making the right decision for you and your health. Never give up!!!

Pia1955

Hi Niecie,

Thanks for your response. I am running around getting lots of second, third, and fourth opinions! Frankly, I’m kind of going crazy but that’s another story. I may continue my screening for another year until I gather as much information as possible. Have you heard of the FORCE group? It’s an online support group for those who have genetic mutations. It’s a wonderful group and offers very helpful information, peer counselors, a chat room and more. I will be attending their yearly conference where the latest information from doctors and experts from all over the world speak and offer seminars. You should check it out! Be well