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Anyone out there with the Chek2 gene mutation???

MNTaylor80
MNTaylor80 Member Posts: 1

my mom's genetic testing for her breast cancer was positive for the Chek 2 gene mutation. We were told this is a rare mutation, but a high risk one. I was tested a week ago and awaiting my results. Anyone out there like us???? Would love to hear how you navigated this or any info you may have. 

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Comments

  • melissadallas
    melissadallas Member Posts: 929
    edited February 2014

    I was negative, but they tested me for CHEK2 before they did BRCA testing. Both my dad's mom & sister had colon cancer & he's growing big polyps pretty fast. I had a rather rare ovarian cancer.

  • melissadallas
    melissadallas Member Posts: 929
    edited February 2014

    Here's an article about risk & CHEK2

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC328743...

  • morwenna
    morwenna Member Posts: 204
    edited February 2014

    I was wondering about CHEK2 mutation. 

    The reason being that around the same time as my breast cancer diagnosis I was also diagnosed with Essential Thrombocythemia (aka Thrombocytosis, or ET). This is essentially a rather slow-moving blood cancer. It may or may not have been a contributory factor in my leg and lung blood clots while on AC chemo.

    I was trolling the wonderweb to see if I could find a link, and in fact both can be related to the CHEK2 gene mutation. 

    I have considered getting genetic counselling, mostly to see if there is something my kids (2 boys) need worry about, but each time I have thought of it, I have decided it is probably somewhat academic, and I don't want to scare or depress the boys, but would rather just urge them to be vigilant, and not wait on any symptom that might appear. 

    I have absolutely no previous family history of cancer of any kind, so normally speaking, it doesn't appear that my cancers should be genetically implicated. Certainly none of my doctors have suggested it. It's just my own musings.

    If you were me, would you be jumping up and down requesting further investigation??

  • melissadallas
    melissadallas Member Posts: 929
    edited February 2014

    Morwenna, I don't see what a session with a counselor would hurt. Actually, they sometimes look at your family  history and decide no testing is warranted. Maybe that would ease your mind.

  • cymom
    cymom Member Posts: 10
    edited February 2014

    Morwenna,

    I have not been tested, but this is a gene mutation that I have read up on because it seems to be associated with Northern European and Slavic populations.  I plan to test for it because my family is Slavic and we have a lot of the cancers associated with the gene.  Chek2 confers increased risk for a number of cancers (not just breast), especially with a positive family history.  There is some good info here:  http://www.ambrygen.com/tests/chek2-related-cancer

    I would definitely find a genetic counselor.  I don't think its academic.  If you or your kids have the gene mutation, it may alter the age you start to screen for various types of cancer and the frequency of those screenings.  It may also alter your treatment.  I know that BRCA cancers get treated somewhat differently than suspected sporadic ones. The same may be true for Chek2, but ask your oncologist. 

  • cymom
    cymom Member Posts: 10
    edited February 2014

    MNTaylor,

    I am surprised that they describe Chek2 as rare.  Worldwide, it is rare, but in certain areas of Northern and Eastern Europe, I think it is more common than BRCA mutations.  

  • melissadallas
    melissadallas Member Posts: 929
    edited February 2014

    I should add, geneticists ask about a lot of things besides cancer. I remember her asking a lot of questions about the several women in my family with thyroid disease.

  • DiveCat
    DiveCat Member Posts: 290
    edited February 2014

    I was tested for CHEK2/1100delC (was negative) after negative BRCA-testing due to my family's cancer history and Northern European ancestry. There are a couple people I recall on FORCE who have the mutation, but I am not sure who or if they are still active there.

    The deletion is a moderate-penetrance gene that increases lifetime risk 2-3x (to lifetime risk of 20-30%) in certain populations (Northern and Eastern European). In this group, those who carry the mutation and actually also have a family history of breast cancer have a lifetime closer to 37% so obviously how it has affected your own family is important.

    OP, you are correct it is quite rare in the general population, but it is good you are getting tested against your mom's results, as if you do carry it then especially given your mother's cancer you are at higher risk. Please feel free to go over to FORCE too, as it is not just for BRCA+ persons.

    I hope you test negative, but please let us know either way.

  • CancerVixen
    CancerVixen Member Posts: 1
    edited March 2014

    I was just recently tested positive for Chek 2 mutation. I had breast cancer for the first time 7 years ago at 39 years old and now I have a second primary cancer in opposite breast at 46. They didn't test for this 7 years ago. Had I known I would have had the double mastectomy at that time. 

  • benisse
    benisse Member Posts: 14
    edited March 2014

    I tested positive for the Chek2. I don't see the oncologist for a month and am really curious to know how this will effect my follow up schedule and screening for the other cancers this mutation is associated with. I'm on Exemestane and suffering through S/E's. Concerned the oncologist will want me to remain on for longer given the increased risk of recurrence with Chek2.

  • melissadallas
    melissadallas Member Posts: 929
    edited March 2014

    Benisse, I would think you might get more frequent & earlier colonoscopy & extra gyn screening. Here's some info:

    The CHEK2 1100delC mutation identifies families with clustering of both colorectal and breast cancer, referred to as the hereditary breast and colorectal cancer phenotype(HBCC)[5]. The mutation, however, appears not to be the major contributor to the HBCC phenotype, thus limitimg its use in genetic counseling. Possibly, CHEK2 1100delC acts as a risk modifier in families with Lynch syndrome[18].
    In a Swedish study, CHEK2 1100delC was not a major cause of double primary breast and colorectal cancer[6]. In Polish studies, positive associations with protein-truncating CHEK2 alleles were seen for cancers of the thyroid (OR 4.9), breast (OR 2.2), and prostate (OR 2.2). The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4), colon cancer (OR 2.0), kidney cancer (OR 2.1), prostate cancer (OR 1.7), thyroid cancer (OR 1.9) and ovarian cystadenomas, borderline ovarian cancers and low-grade invasive ovarian cancers, but not no high grade ovarian cancer[12,15,17]. All mutation types combined were associated with an increased risk of bladder cancer (OR 1.9)[13]. In a Finnish population, the I157T mutation was observed more frequently in colorectal cancer patients than in controls. A trend towards higher frequency was seen in patients with multiple primary tumors and/or a family history of cancer[14]. A Danish-German study suggested a two-fold increase in melanoma risk for 1100delC carriers[23]. 

  • eileenj
    eileenj Member Posts: 10
    edited April 2014

    Ive been tested for BRCA by my oncologist, results were negative, but I am going forward to see a genetic counselor for further testing.  My appt is April 7.

    I also have incidents of colon cancer in my family, on my grandfather and grandmother's sides of the family (father's parents); my grandmother had colon cancer, it was removed and she did not need any treatment, and my grandfather's sister died of colon cancer.  Also, grandmother's (father's side) sister died from pancreatic cancer, and grandmother's neice (her sister's daughter) had BC. 


     

  • cp418
    cp418 Member Posts: 359
    edited April 2014

    How did you go about getting CHEK2 gene testing?  I was given the run around and had to fight just to get BRCA testing although CHEK2 was probably more informative given my background. I finally was tested for BRCA but they refused to test me for CHEK2 when I asked.  The excuse I was given was that it was so rare.  They ignored that I am Polish/Serbian decent 1st generation and have family cancer hx: uncle - kidney, father - colon, aunt - breast, grandmother - leukemia, 2 uncles - prostate.  I am also high melanoma risk after having over 10 moles removed over the past 20 years.  Three were rated as premelanoma status.  Recently dx with hypothyroid.

  • melissadallas
    melissadallas Member Posts: 929
    edited April 2014

    cp418, are you just asking for the test or are you being counseled by a genetics doc? The genetics doc determined which testing to do on me based on her estimation of probabilities and my family tree she did.

  • cp418
    cp418 Member Posts: 359
    edited April 2014

    When I finally was allowed to get the BRCA testing I met with a genetics counselor (who was not a doctor).  I filled out the family hx forms and provided a sample.  The appointment was only for BRCA and no other genetic testing was discussed.  They made it sound as if they did not test for any other genes - testing not available.  I was not impressed with the counseling provided.

  • melissadallas
    melissadallas Member Posts: 929
    edited April 2014

    See, I hate that doctors just refer you specifically for BRCA testing. I think women should be referred to a genetics doctor for counseling like I was. There are other genetic syndromes that make more "sense" in some families. My genetics doc didn't even test me for BRCA until the PTEN & CHEK2 came back negative. She thought it was really low probability that I would be BRCA + and I wasn't.

  • cp418
    cp418 Member Posts: 359
    edited April 2014

    EXACTLY!!!  This is what happened to me - only a referral for BRCA testing even when I inquired about other genetic testing.  I remember asking specifically about PTEN and CHEK2 as I had researched it at the time.  I am so tired of getting brushed off when I ask very valid questions.

    I was even blown off while getting chemo when I had severe gastric pains and ended up in the ER.  ER doc only ordered a CT scan and discharged me with nothing!  My exOnc told me I must have had a prior GI problem as he did not believe it was due to the chemo  DD A/C.  Again, I had to do my own research and found here other patients with similar GI problems (severe heartburn) who had to be put on Protonix.  My exOnc would not prescribe any medication for me so I went to my GP to get the prescription.  I am so disgusted with this bleeping dx and getting the run around from these so called medical professionals.  End of rant.....

  • melissadallas
    melissadallas Member Posts: 929
    edited April 2014

    after just having had ovarian cancer surgery then getting the LCIS biopsy less than 6 months later I was actually referred as quote "LYNCH SYNDROME???". I still remember the piece of paper the primary care doc wrote it on. Scared me.

    Of course, after the first hospital misdiagnosed me and was insistent I had cirrhosis for 4 days (I had massive ascites but normal liver labs) and putting me through an unnecessary liver biopsy only then did they scan my pelvis. When they transferred me to the other hospital, despite the fact that I had a TWENTY POUND ovarian mass I noticed later their stupid paperwork still said "but does she have liver disease???" About the second most common reason for ascites is ovarian cancer...

  • cp418
    cp418 Member Posts: 359
    edited April 2014

    MD - that is a sin considering how advanced we've become with modern medical technology and research.  They simply do not know how to use this technology or the information it provides to help dx/treat patients.  They DO NOT know how to diagnose patients!!   BTW - once something is documented in your medical charts even if its WRONG -- it stays there to add confusion for the future.  So as a patient you have to constantly communicate these are documented errors.  (Did I mention how they reported in my mammogram the WRONG breast for my prior breast cancer!!  After lumpectomy, chemo, radiation treatments you would think the radiologist could document the CORRECT breast??!!)

    It is so scary and frustrating when we have to constantly be vigilant asking questions and getting copies of all our reports/results.  IMO even more scary is the shortage of doctors. Some articles I've seen discussed the possibility of shortening the medical curriculum for students studying to be doctors.  Next they will be pushing us off on NPs and PAs. There is no or minimum education for intergrated medicine to teach med students about diet/exercise/supplements.  They all want to write a prescription and put everyone on statins and BPs.....  Ok - deep breath now and no more rants for today.  I've met my quota.  Loopy

  • melissadallas
    melissadallas Member Posts: 929
    edited April 2014

    What I got was a resident at a university hospital trying to twist the facts to fit his preconceived diagnosis. I assume they just suspect you are lying when you tell them you you don't drink much, never did IV drugs & don't sleep with people who do. He even tried to say I had clubbed fingers when my hands are just normal, stubby, knobby hands. I told him they had never changed & looked exactly like my mother's (who was sitting right there).

    It was purely from the ascites - how do you get to cirrhosis with normal labs, a normal abdominal ultrasound, no jaundice? He told my poor mother that I probably needed a liver transplant & since I had no insurance that put me in a very precarious position.

  • have2laugh
    have2laugh Member Posts: 8
    edited April 2014

    I am curious if anyone did have testing under their insurance. I had BRCA negative results- no surprise since two sisters both negative as well. Three of five sisters with some type of breast cancer- DCIS at 43, IDC at 44, and IDC at 45. I am the DCIS found on baseline MRI and about to start radiation. All doctors feel some genetic link but no one has pushed getting other tests. I wonder if I should not be more proactive for my two daughters and nieces.Geneticists aware our father had prostate ca at 58, both his brothers had  ca-1 colon and1  thyroid in early 60's and a maternal aunt with breast ca as well.  I know my insurance only covers BRCA but I may be able to get second opinion approved through Mayo clinic affiliation with my hospital. Can anyone tell me if they found a particular study or hospital that offered testing?

  • melissadallas
    melissadallas Member Posts: 929
    edited April 2014

    have2laugh, there are programs, but there are different qualifications/studies/income limits on them.I was "lucky" that I was only working part time & had lost my insurance when I was going through this, because my counselor managed to get me qualified for several.

  • have2laugh
    have2laugh Member Posts: 8
    edited April 2014

    Thanks, I will give the genetic counselor a call and just reiterate letting me know if something out there, I would be interested. My insurance only started covering BRCA this year and even then I had 20% to cover. I am sure I will have met my out of pocket max by the time all bills finalize so maybe now is time to challenge it. Won't qualify for anything if income factor with both working and just one little one at home though like everyone else really feeling hit from all medical bills. I am humbled every time I go to doctor and at radiation to see what others are going through so still feeling lucky. I hope if anyone hears of something they will add to board. Thanks

  • melissadallas
    melissadallas Member Posts: 929
    edited April 2014

    The income threshold was really, really low on one I remember because I was at 150% of the poverty level & that was too much.

  • chefmb
    chefmb Member Posts: 1
    edited August 2014

    I recently had the full 28 panel "Cancer Next" assay from Ambry Genetics. I had a lumpectomy, radiation and 5 years of Tamoxifen after an early stage IDC dx in 2010. I was tested for BRCA when I was first dx'd and it was negative. I have a family history of a second degree relative with pre-menopausal bc (paternal aunt), my father had a melanoma and lots of colon polyps although none that turned into cancer, and a paternal grandmother with colon cancer (although at a very advanced age). I was having a lot of little issues and problems so my wonderful oncologist at the NYU Cancer Center had me do this assay. At first my insurance wouldn't cover it but somehow she worked it through. I think it was a situation where it took like 6 months for them to let me know if it would be approved, it wasn't,  and then they felt so badly, they ran the test for free. In any case, it all came back negative, with the exception of the check2 gene which they deemed "inconclusive: variant of unknown origin."  Nobody seems to be worried about this, except me.....Not sure where to take this from here......Except probably another five years of Tamoxifen. Joy....

  • melissadallas
    melissadallas Member Posts: 929
    edited August 2014

    Chefmb, maybe more frequent or earlier colonoscopies, especially if you have polyps on your first one.

    They tested me for Chek2 because both my dad's mom & sister had colorectal cancer.

  • JohnSmith
    JohnSmith Member Posts: 61
    edited August 2014

    We did a genetic test called: "Women's Hereditary Cancers Panel", by a California based company called Invitae. This test analyzes the following genes: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2 (1100delC variant), EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, STK11, TP53
    Disorders included: Hereditary breast and ovarian cancer syndrome, PTEN hamartoma tumor syndrome (Cowden syndrome), Li-Fraumeni syndrome, Lynch syndrome, Peutz-Jeghers syndrome, Hereditary diffuse gastric cancer (also causes lobular breast cancer), Moderate-risk breast cancer susceptibility

    This test may or may not
    be covered by insurance, and imagine is more often done on younger
    women who have previous childhood cancers or strong family history of cancer. My wife had a childhood cancer from 30 years ago, so our medical team which include geneticists didn't ask if we wanted the test. They said we are doing it!! Only later did we discover the test was not completely covered by insurance. Despite meeting our "out of
    pocket max", insurance only paid ~30% of the bill.

    Regardless, the test results allowed us to precede forward with the proper treatments.

  • HazeyJ
    HazeyJ Member Posts: 1
    edited October 2014

    My daughter, who is 21 years old, tested positive for a Chek2 abnormality when we did the 23andme consumer DNA testing, for the low low price of $99. She had the abnormality most associated with breast cancer risk, the 1100delC mutation. She is healthy so far, but her father has had both acute leukemia and male breast cancer. We're planning to see a genetic counselor on her next college break to learn more about what kind of screening would be appropriate for her. I thought people might be interested in knowing that the test is readily and cheaply available, although, of course, it doesn't provide any information about how to cope with the results.

  • moderators
    moderators Posts: 7,639
    edited October 2014

    Dear HazeyJ, welcome to BCO. You may be interested in some articles on our main site, such as: Genetics or Other Abnormal Gene Testing. There are otghers there, just use the Search function.

    May your daughter remain BC free and our best to your husband.

    The Mods

  • AshleyMarie1986
    AshleyMarie1986 Member Posts: 3
    edited October 2014

    I tested positive for the chek2 gene mutation. The genetic counselor called it "a mutation of unknown significance" due to lack of research. She told me she would call me if the gene is reclassified down the road as cancer causing. Also my onc, said he had never heard of it and did not make a big deal of it. My own research has shown me otherwise...My mother was tested and she was negative but they stopped there because there is no direct living relatives on my father's side. Of course now I'm worried about the risk for my children.