Anyone out there with the Chek2 gene mutation???
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Have any of you had family members tested after finding out about having the Check2 mutation? As I said in my previous post, my mother was tested but was negative. I'm curious how likely it is that I will have passed this to my children.
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I have just recently found out I have the chek2 deletion. My maternal grandmother died of ovarian cancer at 65. My maternal aunt died of multiple myeloma at 50. My mother recently passed away from a recurrence of breast cancer at 55. I am currently looking into a preventative mastectomy. I am 34.0
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Welcome to BCO Marie! We are glad that you reached out here. This is a great community for sharing experiences and getting support. Check this link Other gene testing for additional reading. Keep us posted. The Mods
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Hi there! I am new to the group. I have not been diagnosed with breast cancer but was just diagnosed with a positive CHEK2 gene mutation. My mom tested positive back in July and recently 10/23/14 had a bilateral mastectomy with DIEP flap reconstruction and did come back with flat epithelial hyperplasia so thank goodness she had the surgery. Since she was positive it of course prompted me to get tested and I came back positive. I am 32 healthy but family history of my mom's mother having breast cancer at age 32 so you can see where I am a little freaked out with this diagnosis and the unknowns of this gene. What are other peoples thoughts?
Thank you!
Rachel
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Hi Rachel - Sorry for the scary diagnosis but thanks for that information. I am fascinated by all this genetic stuff. Do you happen to know what are the odds of developing BC if one tests positive for that mutation? Also - does you mom have BC? If so at what age? Sorry I can't answer your questions.
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DX in 2005 and just recently dx with CHEK 2 mutation. I am thinking of having our 4 children tested at some point. I had a bilateral mastectomy in '05 so thankful for that decision. Recently had colonoscopy and urinary ultrasound. Have to have thyroid checked again as lumps there.....
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hi, after a full genetic panel due to family history of BC i was positive for Chek2 mutation (neg BRCA and others). my doctors reacted and made recommendations as though this was BRCA (perhaps because of my family history) although there is very limited information on this mutation (stumped my genetic counselor). i opted for survielliance- mammo, MRI for boobs and doppler sono for downstairs every 6 months. still need to consult an oncologist and my breast surgeon. and also need to get a colonoscopy test. undecided about doing prophylactic surgery. i am 40, lumpy but cancer free!the odds for BC with Chek2 are approx 20%-50%, depending on personal and family history.
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Welcome lizzigrace to BCO. Sorry you are having to go through this decision-making process, and learning ways to reduce your risk. It is not easy.
We're all here for you.
The Mods
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I was given the full panel of genetics testing after my dx last month. Just got the results today…all 29 genes were negative except for the CHEK 2 gene. The genetics counselor told me that a normal person has a 10% chance of developing breast cancer by age 80. With this CHEK 2 mutation, your risk is between 23% -- 48%. At this point, I am not sure if this will make any difference in my treatment plan.
If my daughter has the mutation, the genetics counselor I talked with today told me it would be recommended that she begin testing earlier for mammograms (starting at age 30 instead of 40). Rachel, I would think your doctors will tell you to also plan on being extra diligent in getting your annual screenings done, or perhaps they would recommend ultrasound and/or MRI with your check-ups.
Since I was negative for the BRCA I didn't ask…but do you know the risk increase with those genes?
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My daughter had contralateral breast cancer in 2014 at age 24 and was diagnosed with papillary thyroid cancer in January of 2015. We had the full panel genetic tests done and she was diagnosed with homozygous chek2 del c. It seems that having two copies of the chek2 gene have predisposed her to a higher incidence of cancer. They told her she should avoid X-rays and ct scans as these could promote a new cancer. Chek2 is a DNA repair disorder of some sort. The rest of the family is being tested. This is very rare, chek2 is seen in something like 1% of northern european populations and two copies of the gene mutation is extremely rare.
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Hi there, I'm new to this site but found this discussion after researching Chek2. At the request of my OB/GYN, I got the genetic testing done and was surprised to find out that I tested positive for the Chek2 mutation. My mom was dx with stage 3 breast cancer when she was 40. There are no other known relatives with a cancer dx so I was pretty floored that I tested positive as we thought my mom's cancer was just a random occurrence. She and my sister are currently waiting for their results. With this info, my MD informed me that I should consider Tamoxifen or a prophylactic double mastectomy. I won't go on Tamoxifen (due to personal reasons) and that my mom became quite depressed and even suicidal while on the drug post chemo. However, a mastectomy feels pretty overwhelming at this point also. I'm scheduled for an MRI on Monday (still nursing my 4th kiddo so a mammogram needs to be postponed until I'm done) and my MD referred me to a breast surgeon who's familiar with check2 to consult about options. Obviously, I won't be making any decisions tomorrow but wondering if anyone else out there who has not had a cancer dx consider a preventative mastectomy with this gene mutation? Hubby feels this should be a matter of when I do it, not if so would like to see if anyone has any feedback/thoughts on this? Thanks so much!
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I just had genetic testing and I have chek2 gene mutation. I had breast cancer 7 years ago and my sister just passed away 6 mons ago with triple neg breast cancer. I have a brother and 2 cousins that have had prostate cancer, a cousin and aunt with breast cancer, an uncle with Lymphoma sarcoma and a 2nd cousin with rhabdomyosarcoma at age 1. This is all on my dad's side (who was an orphan). My daughter and niece will be tested in a couple of weeks because they have a 50% chance of having the mutation as well.
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Hi dippado, and welcome to Breastcancer.org!
Wow, that's quite the family history. We're so sorry to hear about your sister, and the rest of your family -- we hope the rest are doing well. Thank you for sharing.
In fact, we are hoping to feature some inspirational stories of our members in our next newsletter and on our website (https://www.breastcancer.org/community/acknowledgi...) who share a breast cancer diagnosis with another family member. Would you be interested in sharing your story with us?
If so, would you mind sending us a PM with a few paragraphs about your experience with so many members of your family being diagnosed with cancer, and especially your sister's breast cancer diagnosis. We're looking for something that may have inspired, surprised, or touched you in the sharing of the breast cancer diagnosis. Any lessons learned? Cherished moments shared? We'd love to hear about it. Please also send along a picture of yourself or something that represents your story that we can share with your story.
We thank you for considering!
--The Mods
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i have 2 aunts with breast cancer that both carry the gene. One of my aunts daughter, my cousin was tested a couple months ago and she tested positive. I was tested march 31st and git my results today, iam also positive. Since iam positive my mom is as well. very scary to me and crazy that so far 5 woman in my family carry the gene
i hope u get good results! 0 -
I had 6 relatives (all on my dads side) 4 with breast cancer and 2 with Colon cancer so my sister and I both went for genetic counselling in 2009.
I was informed that they considered me to be at low to moderate risk but as a precaution agreed that I could start screening for BC early (I was 47) I never received this.
I was diagnosed with IDC on 10 April 2012 stage 3A grade 3 and had mastectomy, Chemo and radiotherapy.
As my circumstances had changed I went back to the genetic clinic (as did my sister) and this time I was seen by a doctor who tested me for the BRCA gene and also because there was a significant occurrence of cancer in our family also tested for the Chek2 gene when the BRCA came back negative.
The problem is that not many people seem to know that much about it but when I informed my Breast surgeon about it he compiled his own research and so far has agreed to annual mammograms and a longer follow up period.
However, the genetic clinic refused to test my sister for this gene defect saying that somehow it was inconclusive. I am unsure if she has pursued the testing privately (we are not close)
I am currently on Letrozole after brief sessions of Tamoxifen for 18 months and Exemestane for 5 months.
As far as preventative surgery goes (ie. undergoing mastectomy of the other breast) I am against this type of action and will cross this bridge if I come to it.
Statistic may indicate that I am at 59% of chance of recurrence or a new cancer but, that means there is 41% that I am not
I do not regret my decision to be tested however, as its much easier to deal with things I know about than things I don't.
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I am positive for CHCK 2, and just had my first mammogram, and MRI due to the CHCK 2, and they found something and I'm currently waiting for my results. I'm not sure why they say it's rare, sounds like we need to be talking about this a little more.
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Hello Tishbb,
In March 2014 a 2cm+ IDC was found in my left breast. My husband found it. It was not difficult to feel, once I knew where to feel. About 3:00, where the curvature of the breast meets the armpit. Flat, kind of bumpy feeling (not smooth or squishy like a water balloon). An MRI right before surgery discovered a LCIS near the nipple that all the ultra sounds had failed to identify. &^%*(ion
Between chemotherapy and radiation (break), I traveled to Seattle to visit with a breast surgeon. My focus was reconstruction of my left breast. The surgeon did an ultra sound on my RIGHT breast and didn't like what he saw. Another biopsy (inconclusive) and then a lumpectomy on that side. My girls are very sad... Both look like they've been beat up. Boooo..., but I am ALIVE.
Three months (4 rounds) of CT (Cyclophosphamide and Taxotere) followed by the usual 30 some radiation treatments (a total vacation after chemotherapy).
With no family history of cancer that I can find in my family (paternal or paternal) I was told no genetic testing needed to be done.
My 31 year old daughter lives in a different state. Her primary care physician thought it was wise to do genetic testing on her. A week and a half ago, she received the results. She is POSITIVE for CHEK2 mutation.
THE QUESTION: Did my daughter inherit the CHEK2 mutation from my side or her fathers side (maternal or paternal)?
My father in law had colon cancer diagnosed at 49.
My mother in law was diagnosed with breast cancer at about 68 and passed at 70.
Last week my oncologist agreed that I should be tested for the CHEK2 and other mutations as a result of my daughter testing positive. Last Friday I had blood drawn which was mailed off to a genetic laboratory. I have no idea how long I will have to wait to receive a response.
I am very curious as to what the results will show. If I don't test positive for any mutations (could happen), then I believe my husband should have genetic testing. That could get really messy, as both of his parents had cancer. Which side did he inherit it from? If I test positive for any mutations connected to BC, I will thoughtfully approach a "nipple and skin saving mastectomy," oophorectomy (ovary removal) and hysterectomy. That's a lot of surgery and I've already had 2 surgeries. I'm thinking it's time for the tissue to go away.
QUERY: There don't seem to be many posts regarding the CHEK2 mutation(s). I'm not sure if it's "rare," or if only a small group of the population have been tested. Maybe it's truly rare or maybe it's not. I think all women with breast, ovarian or uterine cancer should receive full genetic testing.
Please update us on your results. :-)
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yes/Am 56, have Chek2 and STK11, five family members on one side breast cancer, one family member on other side breast cancer, both parents passed away with different Cancer, both my only younger brother and two years older sister have had Cancer. Am seeing counseling specialist on May 22nd. Already saw breast specialist who recommends getting off bio hormones and possible surgery. Getting off hormones isn't an option as my menopause was and still is sooo bad. Not sure what to do yet. Pamela
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Hi Pamela - Welcome to BCO. Good luck with the GC appointment. This gene stuff is all so fascinating. Have you seen the studies that show that Venlafaxine is just as effective as HRT? Here is a link
http://www.breastcancer.org/research-news/effexor-...
Take care and let us know how things go!
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I was diagnosed with Stage IIIa IDC in March 2013. As my maternal aunt and her daughter (my cousin) had both been previously diagnosed with breast cancer, and since they were both BRCA positive, my onc sent me for testing. I came back negative.
Fast forward to fall of 2014, and I tell my ob/gyn that I want a full hysterectomy. I've already done chemo, double mastectomy, radiation, depression, anxiety, rage...and now I want these remaining girl parts removed. She actually pushed back and said she wasn't comfortable doing the surgery, "absent a valid medical reason.". I was so pissed. So, I go back to my onc, and he recommends further genetic testing. It's always stumped him how my aunt and cousin - my two relatives with bc - are BRCA positive but not me.
This all takes awhile, but I finally get the testing. And it showed that I have the CHEK2 mutation. Call me weird, but I was relieved. Finally, perhaps, here is the answer to why I had breast cancer at 43. And, being that I was now an official mutant, the ob-gyn agreed to the hysterectomy. I had that done in March 2015 and, aside from a resurgence of hot flashes and night sweats, I am thrilled. One of my girl parts already tried to kill me. Why would I want to lug around any more ticking time bombs?
So, my point is this - in a glass half-full world, I would recommend embracing a finding of this mutation. Knowledge is power. If I could go back in time, I would've given my left tit to find out - before getting cancer - that I was at risk. I would've given the right one, too. I would much preferred a prophylactic double mastectomy than to the cancer battle I've fought.
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Hello -
I just looked at my 23 and me testing, done prior to FDA involvement, and I think it shows that I'm positive for the CHEK2 mutation. I'm 52, and was premenopausal at the time of dx. My mom is adopted, so I don't have any family history for her - except that her maternal grandfather died of cancer at age 55. My onc did not recommend genetic testing at the time of dx - will this new info change that? I have a 19yo daughter, and five nieces under the age of 25 - this makes me concerned for all of them.
Thanks
Barb
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this is my story too. All family members positive for BRCA 1 but me negative. Now very high risk with ADH and can't take meds for other reasons . Should I get checked for Chek2 mutation and how did you ladies accomplish this?
Thanks!
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i am a 43 yr old woman who has adneocarcinoma of cervix at 38 w radical hysterectomy and lymph node removal as well as ovarian suspension. My sister was recently dx with stage 4 metastic colon cancer and my father passed away from melanoma. I have had 2 aunts on my mothers side pass from breast cancer in their 40s as well as one still living with it. I was encouraged by my oncologist to have genetic panel and came back CHEK2 positive. I began high risk breast management and last week had 3 mri guided biopsies. One came back as atypical ductal hyperplasia my o.cologist is on vacation and they are wanting me to meet with her and a breast surgeon affiliated with her practice when she gets back. With all of the family history as well as genetics i really just kinda want to know thoughts from women who have been here and what q to ask as well as what route is most generally taken. I really dont want to spend the next 50 years or so with 6 month mammo 6 month mri if i dont have to. I have 3 teenagers and a husband and we enjoy being active together😃
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Hi Sunshine-
We just want to welcome you to our community here at BCO. We're sorry for what brings you here, but we're glad you've found us, and hope you find the support you need among women who share this experience with you. Please don't hesitate to reach out if you need any assistance!
The Mods
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I hope someone is still active in this post. I am 34 years old seeking info, guidance. something. I was scheduled to get genetic testing for the Brca genes because of family history on my mothers,, mothers side of the family. I have a partially solid cyst on my ovary and a history of a lower half that is nothing but trouble. So, my OB said if I came back positive she would do a hysterectomy, if not it would be a watch and see on the cyst, and an ablation for the other stuff going on. A week before my genetic testing my grandfather (mothers father) told me that I needed to be tested for the Chek2 gene, and to get into contact with my cousin Kim about the details. Kim gave me a family history that was very in depth, she tested positive for Chek2 c.1100delC, and was diagnosed with bilateral breast cancer, her dad had just died of multiple myloma, her brother has neck cancer, cousins with leukemia.. the list went on. No one thought anything of it until the genetic testing. Fast forward
I received my results, and I also tested positive for the Chek2 c.1100delC. And because of my positive result the geneticist said my mother was also positive. She said the range is 25-48 percent or 2 to 5 fold with my family history she would say on the higher end of things,Higher risk of colorectal, stomach, kidney, endometrial, melanoma, and thyroid cancers. So, I am waiting to see my OB. Do I skip her and see a breast specialist? I had a lumpectomy in both breasts in 2009, non cancerous. Do I consider a prophylactic mastectomy? I was all for a hysterectomy, for some reason it didn't matter I was so scared of ovarian cancer, worrying about my upper half never occurred to me.
Just looking for someone who has been there, to help me. My best friend just died three months ago of breast cancer. I keep wondering, what would she do? My Aunt is currently stage 4, so you can imagine if she had her way the surgery would be scheduled already.
Thank you
Cat
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Hi Cat -
We just wanted to say hi and welcome to Breastcancer.org. We're sorry you're faced with this tough decision, but happy you have some information on your genetics in your pocket that can help you in your treatment decisions.
Our community is made up of some incredible members, with lots of great advice -- we're sure someone will be by soon to share their experiences or advice with you. If not, since this thread has been quiet for a little while, you may want to consider starting your own thread in this forum, or the Positive Genetic Results forum.
We hope this helps!
--The Mods
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Cat and Sunshine -
I'm a CHEK2 mutant. I'm glad my breasts are gone, and I'm glad I had the rest of my girl parts removed, too. My sister tested negative but she was ready to lop hers off if the results had been different. Everyone needs to make their own decision but just remember - knowledge is power. And life does go in after a mastectomy.
Jennie
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After I was diagnosed with BC this summer (at age 58) my breast surgeon sent me to genetics to investigate the unusually high number of 1st & 2nd degree relatives with cancer in my family--19 individual cases! Initially, I thought I would be out of the woods when the BRCA genes came back clear. It took an additional 2-3 weeks to get the results on the 32-gene assay that was done and unfortunately, I came back positive for both Chek2 and PALB2 (associated with BRCA2). The genetics counselor gave me a lifetime breast cancer risk breast risk of 45% Yikes!
At first, my breast surgeon recommended close surveillance and I was good with that. Then I consulted with an oncologist and when she saw my family history, gene mutations, plus the known BC that I currently have, she immediately recommended chemo and bilateral mastectomy, and possibly ovary removal.
Had I known all this earlier, I don't know whether I would have had a PBMX. Of course, these genes have only been studied in the last 2 years and there isn't a clear consensus on what should be done. Now that I *do* know, I will pay for my adult kids to be tested. They have a 50% chance of having one or both gene mutations, as do my own siblings. So I'm working up a medical family tree that everyone can take to the doctor, along with copies of my genetic testing. The 32-gene assay is pretty expensive ($3000+) but it's only about $300 to test for PALB2 and Chek2. Totally worth it. It will be my Christmas present to my kids.
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Thank you all so much for the input. I received my letter from the cancer center that I have to give all my doctors about my results. They do want me to keep coming back to the genetics every year because they keep learning more and more about the chek2 gene. It had recommendations for family members in the letter. I am really surprised at how thorough she was in it. I think I am going to make my appointment with the Breast Center (if I can without with just the genetics recommendation) Or should I see the breast specialist/surgeon that did my lumpectomy, and have her be in charge of my care from the get-go? She has the film from my fist mammogram.
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I wish I had seen the MO before I had my lumpectomy. When I did finally see her (6 weeks later!) the first thing she said when she saw my genetics, was "Why have you NOT had a bilateral mastectomy??!!" followed by, "Chemo. Radiations. More surgery." Foo!
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