CHEK2 Mutaion

goldeelox22

I found a lump in January that I had removed and I don't have breast cancer but I have all of the markers for it. LCIS and hyperplasia. I also have an "unknown something" in the same tumor. Numerous pathologists have looked at it. Deaconess, KU Med, Brigham Womens, and someone in Michigan. None of them have seen this. I had genetic testing done and just learned that I have CHEK2 Mutation. They are recommending that I have a double prophylactic mastectomy. I am 47 years old. Never thought I'd be having to make this decision. I am looking at nipple and skin saving mastectomy. On top of all that I learned that my kids both need to be tested. Anyone else been here?

Moderators

Hi Goldeelox and welcome to Breastcancer.org! We're sorry you're faced with this decision, but you've come to the right place for support. We've got many members here who are faced with similar decisions -- you're sure to get some responses soon!

You may also want to post your story and questions in the Positive Genetic Test Results forum to meet others.

Also, the main Breastcancer.org site has some great information on Prophylactic Mastectomy and also What to do If Your Genetic Test Results are Positive. We hope this helps!

--The Mods

BethL

Goldeelox-I found out I have chek 2 mutation last January. I was first diagnosed with breast cancer at age 38 and then again at 48. Had bmx in December and when I found out about the chek2, I inew I had made the right choice for me. I have 4 sons and so far haven't had them tested, but planning on it at some point. I'm sorry you're dealing with this but it's good you know before you possibly end up with cancer. You've found a site full of support from others who know what you are going through.

Slappy-Squirrel

I tested positive for the Chek2 gene as well. I had BMX, no reconstruction and I'm glad I did.

mustlovepoodles

Yes, I tested positive for Chek2 and PALB2, both of which cause BC, so the breasts had to go.  My older children are 29yo DS and 23yo DD.  They wanted to be tested because there is history of male BC and one aunt who had BC at age 24.  DS came back negative for both. DD came back positive for both. Obviously, we are all devastated. If there is one bright spot in all this, it is that DD is very health conscious so I know that she will follow her health closely. DS is not. He never goes to the doctor, doesn't take his meds correctly, drinks too much, and generally doesn't take care of his health.

goldeelox22

Thanks to all of you who have replied.

I had an MRI yesterday and am awaiting the results. I know that I am going to have to do the mastectomy but I'm super scared. Yesterday was very hard for some reason. It's a very emotional time.

goldeelox22

I'm sorry one has tested positive for CHEK2 That is my worst fear for my kids and family. Just found out that another 2nd cousin has the same type of rare tumor as me.

goldeelox22

Thanks for steering me over to "positive test results".

Meganfox07

hi. I just tested positive for the Chek2 gene but negative Braga 1-2 I'm just researching this and I saw you opted for the surgery?

Meganfox07

hi. I just tested positive for the Chek2 gene but negative Braga 1-2 I'm just researching this and I saw you opted for the surgery?

mustlovepoodles

Not sure who your question is directed toward, but yes, I had prophylactic BMX. Anything you need to talk about?

Amyv38

I tested positive for chek2 in 2015 . My Dr said she didn't have much information on it other then that is was a mutated gene. She handed me a printout with very little information on it and told me she had put in referrals for both a mammogram and colonoscopy . Both tests came back fine. It's 2 years later, I'm 38 with a family history of both breast and colon cancer on my fathers side.

Recently I started experiencing pain on the right side of my body. First my shoulder, then shortly after noticed my armpits lymphoids were extremely tender and swollen, my right Breast is also very swollen feels very heavy and seems to be dropping. I started a new job and my insurance won't go into effect for another 3 weeks . Any thoughts on symptoms

Toughiebird

Is there any concern that reconstruction has any links to future cancers in chek2? i have chek2 ( teh S428 one - not the 110del) just made the choice to have prophyatic BMX, after a tiny DCIS found in left breast and had lumpectomy in May, suspicious dysplasia, necrosis, etc - all removed in last months lumpectomy but need to make choice to do bmx or radiation, tamoxifen ultra surveillance. i fear some of this surveillance because do every 6 months MRI and then 6 months later 3d mammogram and ultrasound and MRI and 3d mamogram did not pick it up. I do not trust this mutation and recently did full genetic counselling in NYC majoe cancer center but scared and looking for info with those that had mx but cancer reoccurred or new aftre the mx - in same breast/ thx for any information to share...

Misty1

Get the BMX. You won't regret it! Peace of mind with the CHEK2. I just did my rt side proph after chek2 diag in 2016. Despite complications, one year later, done and thankful! My PS said chances of cancer related to implants is soooo rare. I'm not worried and neither is he

SueJOlive

Also chek2 positive double BMX, with expanded on 10/23/17and now waiting on Oncotype score to see what our next step is. Only 46 so wasn’t willling to worry for the next 20 - 30 yeara if the left breast was going to turn on me.

Sherry1010

I received results from genetic testing and I, too, test positive for the chek2 c.1100dal gene - results show 'high risk for cancer'. This is not a huge surprise with the cancer that runs in the family. Lost my mom to inflammatory breast cancer. All of your posts are very interesting and informative. From the little research I've done, it looks like tamoxifen and surgery are some options along with MRI's rather than mammograms more frequently. I'm not excited at the thought of prophylactic chemo. My questions is - how hard was it to get the bilateral mastectomy? Did insurance cover it? Are doctors hesitant? Does having the chek2 qualify you? I've not had a chance to meet with my Dr to discuss this yet. Have any of you had your children tested and have results? Looks like we have a 50% chance of passing it along unfortunately. Thanks in advance for any thoughts!

Moderators

Hi Sherry-

Welcome! As far as getting your insurance to cover prophylactic treatments, it can really depend on your carrier. Many doctors see the benefit of prophylactic surgeries for people with genetic mutations that put them at higher risk for breast cancer, but you may have to get a second or third opinion. Once you've found a doctor who agrees, they can help with the insurance authorization.You may also find some helpful info in our insurance and finances forum: https://community.breastcancer.org/forum/113

The Mods