Anyone out there with the Chek2 gene mutation???
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I also have Chek2 11009del . My cancer center misfiled my genetic report (my sister had bc in her 20's) and we didn't know the results until after my umx. Now I am going to go for genetic counseling and decided to have a prophylactic mx on my right side probably when I have reconstruction done on the left. I already have had my ovaries removed with my hysterectomy nearly 4 years ago at the recommendation of my surgeon due to my sisters early cancer. My kids are both going for genetic counseling as well.
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I am just starting to research CHEK2. My mom is 67 and was recently diagnosed with stage 3C CLEAR CELL ovarian cancer. She tested positive for CHEK2. I am 42 and just started my own testing. I am crossing my fingers- I am suffering terrible fear! Sadly, my maternal grandfather had breast cancer, but it was a hidden diagnosis because it was an embarrassment to the family (ladies disease in a man!) I never heard about it until my moms diagnosis! Both of my maternal grandparents had breast cancer - grandpa at 60 and grandma at 70. I am told that CLEAR CELL ovarian cancer is extremely rare and is aggressive. Does anybody out there know of a CHEK2 association with this clear cell type?
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Me. I'm 42 now. Found a lump at 37 and had a mammogram & ultrasound and was told I had dense breast tissue
My paternal aunt died from a recurrence of breast cancer last February. I was diagnosed at the end of April. I start radiation on Wednesday. I was REALLY, hell, I AM really nervous about doing radiation because of exactly what we do know about CHEK2 mutation. It is a gene that is supposed to repair DNA damage. Radiation causes DNA damage. My CHEK2 gene is mutated and doesn't do what it is supposed to do.So far, though, there isn't enough data, possibly any data, about not doing radiation because of this gene. Hmmm...I should start a new topic I think.
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I have a variant of unknown significance in the CHEK2 gene. My mom has the same variant. She had BC in 1992 and a new primary diagnosed Nov 2015. I had BC at age 43 in 2013 and a recurrence in 2015. I did have to have radiation with my recurrence because I'd already had BMX.
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I have read this thread and just want to advise everyone (especially those having a hard time getting a dr. to order a CHEK2 mutation test) that Color Genomics tests for 19 genes associated with bc for about $250. My mom died of bc but before ther death they only tested for BRAC and BART. I wanted to know more so I ordered this test from Color Genomics. Just a "spit" test. very simple. Sent it in and got a report back. I was negative as to all 19 genes. It was good to know. And also I did not feel like I had to beg anyone to get the test. Good luck to all.
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I just did the Color test too. I received my results last September . No known mutations. Was very smooth and easy and I agree cheap enough that I didn't need to get insurance and docs involved .
I had already tested negative for BRCA 120 years ago but I wanted to get this testing updated
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I just sent out my saliva sample for the Color test 3 weeks ago. I know they said 4-10 weeks for results. For those of you who did the Color test, how long did your results take?
I only had BRCA testing in 2013. When my mom tested positive for the unknown variant in the CHEK2 gene, they tested me fro the same variant as part of their family testing program to identify the variants, but they only tested me for that one. I'd like to know more about the other gene because cancer is everywhere in my background.
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I just ordered the Color Genomics test. I had the BRCA test done a few years back - negative. However, I had to FIGHT to get it done at the time and I really don't know why - my insurance covered the cost. When I inquired about having other genetics testing I was told flat out NO - but maybe because it was not available?? I am really tired of fighting with doctors and having to research and confirm their decisions.
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cp. I was told insurance would not cover it because it was considered "experimental" and because it would not lead to any changes in treatment since I'd already had BMX. I am so glad this test exists at a reasonable price! I received the kit within 5 days of when I ordered it and sent it back the same day. They e-mailed me when they received it, so now I am just waiting for the results. I already know of one variant of unknown significance in CHEK2; I just don't know what else may be there. It seems people with negative results got their quickly and I am wondering if it takes longer when variants are found. The website had said 4-10 weeks, and it's been just over 3 weeks since they received it, so I may still have quite a while to wait; I'm sure it also depends on how busy they are.
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KBeee - yes, I agree the information will not change a current treatment plan. I'm hoping for the future that treatments will become more personalized based upon this available information and really benefit the patient. Recently more information became available for ER+ patients who were either luminal A versus B which impacted if they would benefit from chemo. So I hope there will be a shift to make treatments more accurate to help us. Now more information coming out about ILC subtypes too. It is about time.....
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I an 47 years old. I was diagnosed with 3c invasive Ductal carcinoma April 2015.
I had this lump for years but every time I had a mammogram they said I had dense breasts and it isn't anything to worry about and to cut down on my caffeine. As to my surprise in January 2015 I received a letter saying my mammogram looked good see ya next year. I knew this time I needed further attention because this year it was bigger and getting tender. I had to request an ultra sound and they did a biopsy.
They started me on A/C neo-adjuvant chemo and my tumor double in size after only 3 treatments. It Went from 8 cm to 15 1/2 and grew a 4 cm extension. After my tumor grew out of control my breast surgeon scheduled a right mastectomy June 2015. I also has 15 lymph nodes removed 12/15 cancerous. We asked if both breasts should be removed and since there wasn't any history of breast cancer in my family, I am the 1st one, he said it wouldn't be necessary.
He decided to do a gene test on me after my mastectomy and that is when I found out I have the CHECK2 gene mutation.
After I completed 28 rounds of radiation I flew out to the City of Hope in California to obtain more information.
When I returned my local oncologist advised me to start chemo up again to prevent cancer showing up in my organs. I declined further chemo and started taking tamoxifen, vitamin D and magnesium.
I was cleared eyes to thighs on my 6 month pet scan and was scheduled to go to San Antonio for the DIEP Flap reconstruction surgery. Right after the scan I was diagnosed with breast cancer in my left breast. Nothing showed up on the pet scan but In asking my doctor about a lump he did a biopsy and it came back cancerous. Lump was there but did not show up on scan.
I had another mastectomy in Monday, April 4, 2016. I feel fine. I haven't ever felt sick.
They want me to do more chemo and radiation but it concerns me about how fragile my DNA is with CHEK2. It seems like everything that has been done was out of order, backwards or wrong. Sooooo confused.
One of my siblings is CHEK2 positive and waiting to see the results of my mom.
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What a warrior. !!! Prayers
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I had thyroid cancer when I was in my young 30s. 2 years ago i was diagnosed with breast cancer and had a lumpectomy. While it spread to a few lymph nodes, I had a low oncotype score so I just had radiation. Later that year, I had a very bad result on a colonoscopy - a very large SSA (an aggressive polyp). It was removed and I was told to come back again this year for a follow-up, where they found another new, large SSA. Apparently my body is trying very hard to get colon cancer. The doctor sent me to a genetic counselor who called me this week and said I have the CHEK2 mutation. I meet with her this week to learn more. I've been reading a lot, but apparently this is pretty new stuff and they don't know a lot.
Honestly, I am relieved to find out why my body keeps creating these cancers. It will be interesting to see what my oncologist has to say.
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ktfelder - My husband had his first ever colonoscopy about eight years ago and had literally hundreds of polyps. At that time he had a gene test but was negative. He opted to have a hemicolectomy, and all the doctors felt it was a matter of time before he needed a full colectomy. His main doc started him on Celebrex which coincidentally had been seen to help polyps. Since then he has hadincredible follow ups. Some years just a couple small polyps, some years none. Just wanted to pass that info along. Best wishes.
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Farmerlucy - Thank you for sharing this. I have been trying to find out my options. (Of course I will be talking to my doctors, but I'm eager to know my options).
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I had genetic testing for the chek2 and it came back positive two days ago. My mom had breast cancer (diagnosis at age 49) then thyroid and uterine cancer following within the next 10-15 years. I am 23 years old and having a family in the future means the world to me but I do not want to pass down this gene to my children. Is anyone in a similar situation?
I initially asked for the genetic testing and was optimistic about the results because I figured it was better to know for the future extensive testing I will have to undergo. But it has really been beyond devastating to find out. I can't eat or sleep and I just feel like whats most important to me in the future (starting a family) is not whats best anymore.
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Florida - sorry for the terrible news. Have you checked out the FORCE website for hereditary breast cancers? Is your mom still around? I was worried about my daughter's risk since she is third, probably fourth generation of a terrible BC legacy and the thing that helped me was when my counselor said advances are being made all the time and who knows what will be available when she is older. I'd say right now take some time to digest the news. Try not to think too far in the future. IMHO opinion you can likely have that future you envision, you just need to manage a few obstacles.
In a sense I felt (feel) like I was one of the lucky ones, in that I knew I was at risk, doctors took my family history very seriously, and I received blue ribbon care.
Best of luck.
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I worry about my kids, but at the same time, advances are coming so quickly that I think cancer treatment will be completely different in 20 years. I will educate them to be assertive, aware, and to monitor themselves carefully
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"I am 23 years old and having a family in the future means the world to me but I do not want to pass down this gene to my children. Is anyone in a similar situation?"
I agree about checking out FORCE. I had a 21 gene testing at my BS's insistence, which came back negative. I'm 53 and already had my kids. I've heard recently, don't remember what its called, they are starting to do IVF where they use your eggs but only ones that don't have the mutations you know you have. Again FORCE would probably have some info here.
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Hello Florida9. I've been thinking about your post and thought I'd write my thoughts to you in hopes that they help. I am 62 years old, diagnosed with breast cancer at 59. 3 years out I am cancer free and well. I must have gotten the chek2 gene from my dad's side - no cancer on my mom's. Dad had 3 siblings. Dad got prostate cancer at age 76 and died at age 93. His brother got prostate cancer and died in his late 80s. One of my dad's sisters got ovarian cancer and died at age 49. This was in 1962 and the treatments were terrible. The other aunt didn't get cancer. Other than my poor aunt who died young, my dad and his brother had wonderful lives. (And, I'll bet my aunt too had many wonderful years before her diagnosis.) We all have to die of something. Some people live longer lives than others. The Chek2 gene is not a death sentence, nor does it mean that you - or your children - can't have a wonderful life.
I have 2 children, ages 32 and 24 and both in good health. I have encouraged them both to get tested, but so far, neither has. If they end up with the Chek2 gene and develop cancer in the future, I hope that today's and tomorrow's medical advances will make it a treatable blip on the radar.
I think that even if the Chek2 gene makes you predisposed to getting cancer, that you can lead an anti-cancer lifestyle and maybe prevent or delay the onset of cancer.
Best wishes to you.
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Hello again.
I realize that I didn't say exactly what I wanted to say. It is this: Suppose my dad - who lived to be 93, and died peacefully without pain, in his 20s found out that he had the Chek2 mutation, and decided not to have children. I wouldn't exist. All the things I have done - my children - wouldn't have happened. And I've had a good life, despite getting cancer 3 years ago. The thing is, it isn't like one of those mutations, like cystic fibrosis, where the child often dies very young and goes through a lot of medical interventions along the way. Your children may or may not end up with the mutation. And even if they do have it, they may not develop cancer. And even if they do develop cancer, it isn't the end of the world, and can be dealt with and survived, often for long times.
Best wishes that you come to some peace with this.
Flavia
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My sister and I have the Chek 2 1100 delc mutation. I was diagnosed 4.5 years ago with Stage 3 BC, but was first one in the family ever with BC so I had a UMX. Then my mom was diagnosed 2 years later - then my sister, one year after that. Genetic red flag, obviously. My mom did not have Chek 2, but my sister and I did from dad's side of family. My dad's side of family was full of cancer compatible with Chek 2. In fact, just composed a letter to send to all my cousins that will go out in days.
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I agree Flaviarose. I am very glad my parents did not choose to not have me! Even if my cancer returns and takes my life, I am grateful for every second I have had to live this wonderful life. I hope my children do not have the mutation, but if they do, I am sure they will rise to the occasion and fight it with every ounce of thier being.
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Florida, I do understand your concern. I found out that I have both the Chek2 and PALB2 gene mutations only after I got breast cancer. My two older children decided to be tested, as well, and while my 30yo son is negative for both, my 23yo daughter is positive for both. Needless to say, I am devastated, as is she. We have so much cancer in our families. Sometimes she says she feels doomed. I always try to validate her feelings, but I also point out to her that she is fortunate to live in a time when they even know about this stuff. Despite finding 19 cases of cancer in my 1st & 2nd degree relatives, nobody ever though to have me get genetic testing. So I had no idea that I was living with a ticking time bomb.
I took my DD to see my breast surgeon just yesterday. She was thorough and held nothing back. I was very impressed at how well she explained everything to DD in a way that she could understand. They did a baseline ultrasound in the office and will do a baseline MRI next week. DD will have surveillance every 6 months, minimum, forever. And unlike those of us who are older and didn't know anything about these genetic mutations, she will have the opportunity to have risk-reducing surgeries at some point in her late 30s-40s, if she so desires.
I will say that although DD is very upset, she does not feel like her life isn't worth living. She doesn't hold me responsible, even though my genes clearly ARE responsible (and I had to get them from one or both of my parents). She is not sorry I had her. DD is very pragmatic and she has just taken this news like a man--or really like a very strong WOMAN.
Take courage. You and my DD have long lives ahead of you and you are both very fortunate to live in a country and a time when scientists are actively studying breast cancer and gene mutations. Don't feel the need to make any permanent decisions right now.
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My DD was diagnosed with Chek2 recently as well. She's 23 with one child. I think the genetic doctor was very good at explaining the surveillance and reassuring her.
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Hi, Yes my sister and I both have the gene. She has had br ca twice, two different kinds. She is 68. I am 67 and have not had any cancer. Her daughter had the gene, her son did not. My daughter did not have the gene and my sons have not been tested. We have two cousins who have the gene and have not had cancer. My mother died from br ca as did three of her sisters. We know the gene came from her side of the family. We have also had many cases of prostate ca in the males 7 out of 8 males even thought I am not sure it is related to chek2. I believe it is. I want to reassure you because I am 67 and have not had cancer. I go to the MD Anderson breast cancer prevention clinic twice a year. I have a mammogram and a breast scan so that if I do get it, I can treat it right away. With Chek2 your chance is 25% which is pretty high but not terrible. You must be diligent in your screening. Good luck
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Dear NewMexico48,
Welcome to the BCO community and thanks for sharing your story with our members. We know that it is so very helpful to hear of others' shared experiences. We wish you and your sister the very best and hope to see you here. The Mods
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and then there is the case of my 66 year old friend who actually has the BRCA 1 Gene and has zero problems. I don't have any genetic mutations ( at least of the twenty tested) and I have ADH. No clear path or answers ... Yet
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Hi - I am Check2 positive. We have a large support group (large ish) on FB under Chek2 mutation support group. My story is on page 4 of the PDF link below re: my breast ca at 43. I was BRCA negative at diagnosis but they weren't checking for Chek2 at the time. My best to you and your mom!
Christy
https://inheritedcancer.net/wp-content/uploads/2013/09/ICARE-Newsletter_2017-Winter_FINAL-2.pdf
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Hi must love poodles!
I also have the Chek2 mutation and also the PALB2 variant (not the mutation but the variant). I just wanted to say hi!
Christy
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