Anyone out there with the Chek2 gene mutation???
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I have Chek2 gene mutation. I had ER positive breast cancer November 2006. My sister had triple negative and passed away October 2014. I have to have breast MRI and mammogram yearly. We split it up where i do 1 each 6 months along with doctor examination.
I just had a mammogram and got the dreaded call. i go back tomorrow for more screening and biopsy.
if you have the mutation, i highly recommend getting masectomy. It just isnt worth it.
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Hoping your biopsy is negative. Sorry you have this added fear and worry.
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I'm so sorry ... how are you doing ?
I just found out I have chek 2 mutation. I had breast cancer in 2006 also . I had a double mastectomy at the time .
I have 2 daughters .. will have them tested .. so OVERWHELMED .. they aren't 18 yet .. so have to wait .. oldest is 17.
My grandfather and father died of stomach cancer and kidney cancer .. thought I was finally past the cancer fear monster stuff .. but guess not , so trying to figure out how to cope and am so happy to find others who are on the same journey ... ❤️
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My sister and I both have the Chek 2 delc mutation - I had a UMX back in 2011, but now need to have other breast removed.
My sister had a lumpectomy upon diagnosis, but after treatment and discovery of Chek 2, she had a double mastectomy and Diep Flap.
We were the first breast cancers - my dad's family was full of cancer, but never breast.
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I'm waiting for my Chek 2 results to make a decision about my course of treatment. Recently diagnosed with Stage I Lobular. My sister was Chek 2 positive, Stage II Lobular. Had double mastectomies, chemo, and hysterectomy at 44. I'm pretty certain I will be positive too. We have another younger sister who is being tested for Chek 2.
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I have *a* check2 mutation, but not *the* check2 mutation. I think its important to distinguish there are a lot of possible mutations and some have much more research behind them. After meeting with a leading genetic counseling office and genetic MD to get another opinion, my mutation doesn't seem to be heading in the direction of one that would be directly cancer causing. They are watching it, I enrolled in a study and will follow up every year on what the latest research is (as well as do my own research.) I had a mastectomy anyway, but so far no indication with my mutation that I need to do anything further other than normal follow-ups, etc.
Because right now mostly people with breast cancer are getting tested, these gene mutations are showing up in people with breast cancer. As the population overall were to get tested, some of these likely would show up in people without cancer in their family and some definitely have a connection. Mine is on the watch list at the moment..
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Hi Cheryl,
We just wanted to offer a warm welcome and let you know you've joined a great space for support and information -- whether you test positive for CHEK2, another gene mutation, or not at all!
We're all here to help answer any questions we can. Please check back in soon and let us know what your results are.
--The Mods
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I was diagnosed with the CHEK2 gene and JAK2 gene about 3years ago. My mom, aunts, grandmother all passed away from Breast cancer, one colon. Other family have had Breast, colon, thyroid, kidney. My doctors are suggesting that I profalactically have a double mastectomy and reconstruction. I am hesitant but considering. Any thoughts? My JAK2 gene complicates surgery due to high platelets and possible clots etc. I am turning 53 and otherwise healthy.
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Hi Cslaman-
We know deciding on prophylactic treatment can be a very difficult and personal decision, and we hope you make the best one for you. We have some info on prophylactic mastectomy on our main site that you might find helpful: http://www.breastcancer.org/treatment/surgery/prop....
Best of luck with whatever you decide to do, please keep us posted!
The Mods
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MY SISTER IS POSITIVE CHEK2, SHE IS BATTLING BREAST CANCER NOW. HAS HAD MULTIPLE TREATMENTS. THIS WEEK MY DAUGHTER WAS TESTED FOR THE GENE DUE TO OUR EXTREME FAMILY HISTORY. SHE AND I ARE POSITIVE AS WELL. SO MUCH ON THIS SITE IS OLD INFORMATION, BUT THIS MUTATION INFORMATION IS FAIRLY NEW AND INFORMATION IS STILL BEING GATHERED. THIS IS A DISGUSTING GENE MUTATION AND CAUSES SO MANY MORE PROBLEMS THAN ARE EVEN MENTIONED HERE. BE PERSISTANT. SINCE IT IS SOMEWHAT RARE, THEY TEND TO WRITE IT OFF WITHOUT EVEN EXPLORING THE POSSIBILITIES. SMH. THERE IS A NEW DRUG THAT CAN HELP WITH BREAST CANCER RELATED TO THIS HORRIFIC GENE, BUT IS NOT YET ABLE TO BE USED IN USA. UNLESS YOU ARE ALREADY ON THE WAY OUT.
VERY SCARY GENE MUTATION, BUT WHAT IS EVEN WORSE IS THAT THE DOCTORS DONT KNOW MUCH ABOUT IT EITHER. THEY ARE SORT OF TRYING OUT TREATMENTS ON THE FLY AND HOPING THEY WORK.
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I do but I just found the forum and am ready for bed. all the pills I am taking, I'm sleeping a lot.
My sister came down with it a couple months before me so I had a head start. I have lots of female cousins that have had it. All but one lived. My Aunt had it. She passed away. My sister and me? We are allergic to Chemo, and the "other" drip. I am taking the pills that chase the estrogen. I am not sure what my sister is doing right now. She refuesd to go to the Docs I pointed he to. Good Night!!!!
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The other thing to know about the Chek2 mutation is that is increases your risk of colon cancer. My family tree is rife with both breast cancer AND colorectal cancer, so my GI doctor was eager to take a look around in there. I had my colonoscopy in Feb and will have to repeat it at least every 5 years, forever. Colonoscopies aren't so bad--the prep isn't pleasant, but the procedure itself is a breeze so if you haven't had one in the last 5 years, contact your PCP and get a referral. Colorectal cancer is highly treatable because it is very slow-growing.
Off my soap box...
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Welcome Shirley9532 to our community, and sleep tight
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At your age and as much as the cancer is throughout your family, I would not have reconstruction surgery. several of my cousins had reconstruction surgery and it came back. Course, I will be 70 in a few more months and I am glad of "less weight" And some of my cloths fit better. My biggest problem was when my hair fell out. All at once!! Something I haven't seen, though there is 10 years worth of reading here. This breast cancer is the same as ovarian cancer. They cheer each other along. So if you have not had a total hysterectomy be sure to go see your GYN. This is a women's cancer. Men very seldom get it. But 'may' be able to pass it on to their daughters. We are not sure yet.
I can't take either infusion so I take a pill twice a day. Anastrozole. I had both breast removed, I already had a hysterectomy and no sign of cancer in my lymph nodes.
Well, time to go read a books. I love my Kindle!!
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I have not read any research that documents increased recurrence after reconstruction. Back in the old days , the 1970s and 1980s, they recommended no reconstruction for five years. But that thinking has changed.
Although ovarian cancer and breast cancer are two different types of cancer, estrogen that is secreted by the ovaries and other places can feed breast cancer, if it is estrogen receptive. My MO recommended that I get those ovaries out because I was ER +.
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I am 60 years old, and I recently tested positive for the CHEK2 mutation (last week I received this info.) I have the IVS2+1G>A gene mutation. I had a BMX in 2010 and had SO HOPED to be past worrying about any type of cancer. My oncologist just gave me permission to see her once/year. Oh, well. Such things happen.
Does anyone know how much the risk of ovarian cancer is increased with this mutation? I thought I read the possibility of low-grade ovarian cancer was increased, but not higher grades.
Also, from what I read, my risk of colon cancer has increased, but I believe colon cancer develops more slowly. I'm not terribly worried about that portion of it. My colonoscopy 7 years ago came back clean. I'll be scheduling another colonoscopy within the next few weeks.
Just as an FYI, my sister had breast cancer, and she had a lumpectomy several years ago. My brother had colon cancer roughly 20 years ago, and has been cancer-free since then.
I'm considering a prophylactic removal of my ovaries. From what I've read, ovarian cancer is sneaky and, being the worrier that I am, removing them might be the way to go.
Thoughts?
Thanks for reading this--any advice is appreciated.
Julie
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On CHEK2: Here is my experience and information.I live in NYC and am agonizing over what treatment to pursue. I am 59 years old tested positive to chek 2 about 6 months ago (family history has older sister had DCIS 9 years ago, and paternal aunt had breast cancer in the 1970s). I was told chek2 roughly increases risk of developing bc in a lifetime 2x ( so 1 in 4 roughly vs 1 in 8 of general population)I was just diagnosed ( from standard ULTRASOUND pick up) with suspicious tiny area, turned out to be DCIS - but high grade aggressive cells and ER/PR- scary but lucky because MRI and 3d mammogram did NOT pick up spot, I had a surgical biospy/lumpectomy in mid may removing area with tiny DCIS, clear margins, all out - healing now. Challenge is Ive learned 2 types of chek2 ( most research is on the 111delc and another S428F (mine). Mine is a little less aggressive but less research and updated all the time). i had full genetics counseling, which i recommend if there is time - said chek2 was important but interacted with my characteristics and must look at family history in all this too - NOT just chek2 in isolation. Yes, uptick for colon cancer but depends on type and recommended colonoscopy every 5 years. i received conflicting information how much influencing colon on my type - so better safe than sorry. After DCIS in my left beast and all my consults this last month, it seems if i have radiation following left breast lumpectomy, i have about a 5-10% of reoccurrance over 10 years and another 10% risk of a NEW PRIMARY developing in that left or the clear right breast over 10 years. Math says about 20% over 20 years. But no one will definitive recommendation that radiation and meds -( debatable how effective on meds since i was RE/PR - for this one incidence)course or prophylatic bmx is on the table too - but i told all about my threshold for risk. Last genetics Dr at major hospital here, said my 5% from all this together were not thigh enough to recommend bmx but it certainly is my choice. What scares me is if it can return (even with these slightly lower % - it can return as invasive - not DCIS like this time )( ie vs brca for ex where its higher %). my numbers are NOT definite so please read with that in mind. Ive seen so many dr. Chek2 is scary but the analysis really helps put it in context of risk. I was told in my case the chek2 not a major factor for ovarian concerns, beyond normal risk. hope my experiences (as i am living and meeting the stress right now) helps.
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I tested positive for CHEK2 in 2015, which I inherited from my father. He died from a recurrence of non-Hodgkin's lymphoma at the age of 65 and I'm pretty sure the gene was responsible. I know it is what caused my breast cancer at the age of 45. Nothing invasive, thank goodness. A radiology test and biopsy found the ductal, but not the lobular which was found during surgery. I'm so glad I opted to have both breasts taken as they were both littered with fibroadenomas, and it prevented me from needing treatment of any kind. I DON'T know, however, if CHEK2 is responsible for the other weird stuff I've grown, like the malignant GI Stromal tumor at age 30. Or the big thyroid nodule at 46. I call myself a "garden of oddities," and I may be...just may be a little paranoid. I keep looking for those signs and symptoms of blood cancer since I am about the same age as my dad when he was first diagnosed. All I can do is be well informed, I guess. Knowledge is power!
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@Saddlebreeze - I also feel like a "garden of oddities" (love your phrase) and wonder if it has any relation to the CHEK2 mutation.
I just found out about being CHEK2 positive this week. I do not have a breast cancer diagnosis. I just had biopsies of 3 sites in my left breast and all 3 had intraductal papillomas, and there were focal microcalcifications, fibrous stroma, sclerosis, and fibrocystic changes as well. I feel like there is so much going on, what if it is all obscuring cancer. Or if it eventually becomes cancer?
I also have 2 thyroid nodules being monitored and one large one previously removed at the same time as a parathyroid adenoma. I have also had uterine polyps removed twice (and likely they grew back but we haven't gone in there to look again as I'm not having symptoms. I have tons of moles and have had several removed and come back as dysplastic nevi. So nothing malignant so far, but does all this stuff grow abnormally because of CHEK2?
My family tree is loaded with cancer of various kinds. My dad died of prostate cancer. I have 3 sisters, two have had malignant tumors (uterine and ovarian) and the third died of chondrosarcoma. I'm extremely paranoid now. My reading has led me down the pathway not only of just the CHEK2 risks but the possibility of Li-Fraumeni syndrome, which seems to be under debate about whether CHEK2 is associated with it (but there have been some families that had CHEK2 mutations). The syndrome is very much related to sarcomas and my sister would meet the criteria for having it. The cancer odds with that are NOT good and I have myself freaked out.
I haven't seen my breast surgeon for follow-up yet or a genetic counselor so I should just chill out and wait to get more facts, but I'm afraid and feel like no one is looking at the whole picture.
Anyway, glad you bumped this thread as it was timely for me. Thanks for sharing your story and hope you are well.
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just found out I have the Chek2 gene mutation. It isn't the variants that I've seen mentioned, but carries a moderate risk. My mom and paternal grandmother both had bc, my dad had a sarcoma, so I too wonder about the Li Faumeni Syndrome. My family that has tested positive for this mutation, including myself, have all had weird tumor (benign) growths, in addition to cancers I wish there was more research, but for now, I plan on having a prophylactic mastectomy.
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That's so interesting to have more people mention the benign tumor growths. I haven't seen much in the literature suggesting this is the case. I did see one study suggesting that Chek2 variants may predispose to benign, borderline, and low-grade ovarian tumors (but I can't read it yet, will have to wait until I'm at work to access).
Lovesanimals, it seems like they don't know a lot about all the variants yet. I have 1100delC, which appears to be the most common in Northern European populations. My family on both sides comes from the Netherlands, so this is interesting to me.
I don't know what I'll do, I wish you luck going forward when you decide to have your risk-reduction mastectomy. I don't blame you with the history of BC in your family. I listened to a podcast that said that family history trumps the risk statistics of the gene mutations (that we know about), so I think it's just putting all the risks together and deciding what you personally can live with.
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Triscuit,I had mucinous borderline ovarian cancer of intestinal cell type. My Dad's mom & sister both had colon cancer. My dad grows really big polyps fast. When I came up with LCIS I was tested for CHEK2 and PTEN before they tested me for BRCA 1 & 2. All negative, but my testing was six years ago & a lot has changed. I am waiting on results from the wider Color Genomics testing.
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Hi!
I just found out yesterday that I have the CHEK2 too!
Yikeys!Now what to do?
My mother passed away 9 years ago with breast cancer, so as of today I have calledthe hospital requesting her records and imaging. I thought If I could get ahead start I could stop this cancer or push it back somehow for awhile.
So, fr my breast exrays have been fine.....I am 63 years old....
Love to chat with someone too.
Thanks!
Tumbleweed77
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Tumbleweed, are you up to date on your colonoscopies? It is my understanding it increases your risk for colon cancer as well
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Hi Tumbleweed77. Sorry to hear that you have the Chek2 mutation and that you lost your mom to breast cancer. Have you met with a genetic counselor or are you planning to? That would be my first suggestion. I just met with one finally last week and it was fairly helpful (a lot of stuff I had already researched on my own, but good to confirm and have someone monitoring).
Anyway, the NCCN (National Comprehensive Cancer Network) guidelines recommend yearly breast MRIs as well as mammograms. As MelissaDallas mentioned colonoscopy is also recommended every 5 years. I just got one of those too. The GI doctor said if benign polyps are found you should do it more often, every 3 years. Fortunately mine was clear.
I think the important part of the meeting with the genetic counselor was taking a detailed personal and family history and using that to individualize risk management and follow-up. For me, that means I am having breast ultrasound and MRI every 6 months (due to dense breasts and multiple papillomas found on biopsy), annual thyroid ultrasounds and dermatology follow-up, and I'll soon be having an ultrasound to look at ovaries and uterus, as those cancers have been in my family. There is no history of breast cancer in my family so something like prophylactic mastectomy or chemopreventation is not being recommended for me at this time. It might be for others based on their personal/family history. The NCCN guidelines say that should be individualized, it is not a global recommendation.
Best of luck to you!
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The odds seemed stacked, I have recently loss my Mother to Breast cancer and my sister has staged 4 breast cancer (also CHEK 2 positive)
I recently tested positive for CHEK 2and have had bloody nipple discharge.
I had a Breast MRI which came back with the following; which showed a rapid initial phase and a delayed plateau phase the BI RAD came back as a 4. The MRI also stated that I had mild increased levels of BPE.
I am scheduled to have a biopsy next week. Nothing I have read so far sounds encouraging. I am very nervous about the biopsy. With my history does this increase the chance of me having cancer
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I tested positive for CHEK2 last summer, I was 18 years old. Does anyone have any suggestions for me?
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Hi Adelynne-
Welcome to BCO! If you have positive genetic test results, your best course of action is to consult with a genetic counselor and your doctor to determine what, if any, course of action you should be taking now. As Triscuit mentioned above, NCCN guidelines recommend annual mammograms and breast MRIs, but at your age, your doctors may suggest a different route. Best that you consult with a genetic counselor to find out where you go from here.
The Mods
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Hi. Reviving an old thread to see if there are any updates. I tested positive for CHEK2, but with a variant of "unknown significance". An internet search on my particular variant came up blank. (c1525C>T)
My oncologist recommended I seriously consider a BMX. My BS disagrees. I feel like locking them in a room and making them talk to each other until they come to a consensus. In the meantime, I'm asking for a referral to a genetic counselor. I feel like before I make such a dramatic decision about my surgery path, I should have as much information as I can reasonably gather.
I was diagnosed with triple negative in November, 2018 and just finished 5 months of neoadjuvant chemotherapy. It shrunk the tumor considerably, but I won't know how much is gone / left until later.
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I have a different VUS in CHEK2; my has the same one as well. I had BMX in 2013 and a local recurrence in 2015. My mom had BC in 1992, and then had a new primary in 2015. They did not do BMX in 1992; only UMX, so it was not an option for her. Everyoen is different, but for us, our VUS seems to like to make cancer.
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