Chek2 gene mutation

[jmackmom]

I had genetic screening done after total hysterectomy, debulking, abdominal wash followed by chemo. Mucinous 1A high grade. I'm doing great and back to normal. The surgeon referred me for genetic screening. All the usual suspects were negative but I tested positive for chek2, a gene mutation of moderate concern. Watch and wait. Has anyone else tested positive for chek2?

[Petrolhead]

Hi

My surgeon did not even do abdominal washings let alone genetic testing. Do you have more info on the chek2 ? Is it particular to mucinous?

Fay

[chrissapam in reply to Petrolhead]

mine didn't either when I queried it they said "we knew you had cancer so it wasn't necessary....I guess treatments do change/develop C xx

[jmackmom in reply to Petrolhead]

Hi Fay. It has nothing to do with what kind of cancer I had. I'm in the US. by the way. My surgeon (Gyne onc) says he refers anyone with a malignancy for genetic testing. I know very little about the gene but apparently it puts you at moderate risk for many cancers. (Whatever that means) They instructed me to let all my cousins know because there's no way to tell from which side of the family it comes. My oncologist says we just keep an eye on it and do all possible related testing like colonoscopy and mammography.

[MaryannGraham in reply to jmackmom]

I hope your doctor sent you to a genetic counselor to discuss the results and what you need to do, proactively, as far as preventative testing is to be done

[Hidden]

In the UK genetic testing is hard to get. Have to be below 50yo etc etc...

I cant remember if i had it tested privately as part of 16 genes panel but its good you know about it. I guess question is what to do with it now...

[jmackmom]

I have since been to a breast cancer research center, referred because of the gene mutation. They really don't know much about this CHK2 gene. The doctor said she never had an ovarian cancer patient who was positive for CHK2 who developed breast cancer. The really good news is that when you have had ovarian cancer and consequently hysterectomy and chemo, your chances of getting breast cancer are greatly reduced. A little positive news is great to hear.

[MaryannGraham]

Hi ! I too have the Chek2 mutation, found after the tumor that was removed was tested. I originally had Uterine Cancer in 2001. Had a complete and total hysterectomy followed by 25 pelvic radiation treatments. Then, in 2012, a recurrence was found - completely by accident, no symptoms. Surgery, chemo, radiation and cyber knife followed. Part of that tumor is what was tested.

I now also tested positive for the Jak2 mutation, and from doing some research and reading have found a study that indicates that the Chek2 gene could cause the Jak2 mutation.

onlinelibrary.wiley.com/doi/10.1111/bjh.13559/full

I saw an MPN specialist at Memorial Sloan Kettering 2 weeks ago and he feels from the blood work that I do have Primary Polycythemia Vera. I'll be going next week for a BMB and abdominal sono, and meet him again in May to go over all results and come up with a treatment plan.

I've only had one, small phlebotomy and am on 1 baby aspirin a day, for now.

[jmackmom in reply to MaryannGraham]

Thanks for the info. I will follow up on this.

[Hidden in reply to jmackmom]

There are a number of clinical trials targeting CHK1/2 inhibition.

Re ovarian and breast... it seems to be associated more with breast.

My understanding of the benefits of loss of ovaries on risk of breast cancer is the same as yours, but I was a bit surprised at what the doctor said ( not doubting its truth, just the statistical basis).

There are many fewer OC patients than BC ones. OC survival is a lot worse than BC. So I wouldn't have thought too many conclusions should be drawn from the fact she's not seen one of us yet.

Good luck with it all. x