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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mchler73 | @mchler73 | Oct 5 11:55pm

In reply to @wwbosworth "Melanoma, thyroid, endometrial and last March kidney." + (show)

@wwbosworth
Wow! I am sorry you have had to go through all of that! Do they think it has to do with the CHEK2 mutation?

cjs123172 | @cjs123172 | Oct 6 5:53am

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!

dick61 | @dick61 | Oct 6 7:44am

I am male and 85. I had proton beam radiation to treat prostate cancer at MN Mayo and PSA is stable at .20. I had a left mastectomy and 3 positive nodes removed and proton beam radiation again at MN Mayo. Just had negative colostomy and plan another in 3 years. Thyroid checked twice each year by my internist. I also do breast and thyroid exams on occasion. Take 20 mg of tamoxifen and have adjusted to its side effects with mental attitude shift. It's a nasty gene. Have regular exams. Good luck and bless you.

wwbosworth | @wwbosworth | Oct 6 8:12am

In reply to @mchler73 "@wwbosworth Wow! I am sorry you have had to go through all of that! Do they..." + (show)

I'm not sure which mutation was the source of the problem, and neither are the doctors. I don't think there's enough research about the mutations to be definitive.

mchler73 | @mchler73 | Oct 6 9:02am

In reply to @wwbosworth "I'm not sure which mutation was the source of the problem, and neither are the doctors...." + (show)

@wwbosworth
Yes, sounds like they don’t know a lot yet. my oncologist said she’s going to do more research about it before I see her again in December. Take care!

Lisa, Volunteer Mentor | @lls8000 | Oct 6 9:09am

In reply to @mchler73 "My oncologist explained that my Genetic test shows I have CHEK2 Mutation and said it can..." + (show)

@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.

mchler73 | @mchler73 | Oct 6 9:36am

In reply to @lls8000 "@mchler73, I was identified as having the CHEK2 gene. My mother does not, so we believe..." + (show)

@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….??

Zebra | @californiazebra | Oct 6 11:17am

In reply to @cjs123172 "The current standard of care for the CHEK2 mutation is to have a yearly MRI and..." + (show)

Which area(s) does your annual MRI cover?

Zebra | @californiazebra | Oct 6 11:27am

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.