CHEK2

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ditzy
ditzy Member Posts: 8
edited September 2016 in Genetic Testing

Hi there everyone

Does anyone out there have the Chek2 gene. I had breast cancer last year and because of family history I was tested for the BRCA gene initially and then for Chek 2. BRCA clear, unfortunately have the CHEK2. I have started screenings but wonder if anyone else has been affected and how they have managed it.

Thank you xx


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Comments

  • Molly50
    Molly50 Member Posts: 3,773
    edited November 2015

    I'm Chek2 positive. I am going for genetic counseling next month. I am planning on having a prophylactic mx on my non cancer side next year.

  • ditzy
    ditzy Member Posts: 8
    edited November 2015

    Hi Molly

    I had breast cancer last year, 2 tumours in my right breast, but because of family history I had a bi-lateral

    mastectomy with immediate recon as I didn't need radio or chemotherapy. Because of the family history

    I was tested for gene mutations and found to have the CHEK2. My genetic counsellor said they didn't know

    much about it so would screen the parts they do know about ...all abit scary really.

    I hope you are keeping well and recovering from your op

    Take care xx

  • Molly50
    Molly50 Member Posts: 3,773
    edited November 2015

    Hi ditzy,

    So far I am doing well. I am in the middle of radiation. I healed well from my umx without much issue. This genetic stuff is very interesting.

  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited November 2015

    I had a small panel done prior to my LX--it came back clear for the BRCA genes and some other stuff, so we proceeded with the LX. Then the 22-gene panel came back positive for both PALB2 and Chek2. I have a truly terrible medical family tree--32 cases of cancer in just my 1st & 2nd degree relatives, including 2 BCs prior to age 50 and 1 case of male BC. The genetics counselor estimated my BC risk at >45%, similar to BRCA2. Had I known that before the LX I would have gone for the BMX. As my MO pointed out, if I just go for increased surveillance, I'll be talking about at least 25 years of mammos, MRIs, and biopsies, and waiting for the other shoe to drop. No thanks.

  • ditzy
    ditzy Member Posts: 8
    edited November 2015

    Glad you are doing ok Molly, it really is amazing what they can do now adays. My mum died from BC at 27 and it really wasn't talked about then 1969....my 2 daughters are clear from the gene after both having tests.

    mustlovepoodles, I'm trying not to think of it as a waiting game, and more about getting reassurance from yearly scans...waiting for my colonoscopy, soon hopefully and hysterectomy on the 15th Dec...

    keep well...nice from fellow defects as my daughter calls me lol xx

  • Veronica31
    Veronica31 Member Posts: 97
    edited December 2015

    I also found out I'm CHEK2 positive. I was diagnosed with IDC at 31 years old.

    My family also had cancers associated with CHEK2:

    Dad: prostate

    Uncle: prostate

    Aunt: colon

    Me: breast


    Anyone else's family have associated cancers

  • DivePuppy
    DivePuppy Member Posts: 29
    edited December 2015

    I am BRCA 1&2 negative, but CHEK2 positive. The CHEK 2 positive mutation is associated with both breast and colon cancer. I have a lot of colon cancer in my family, and have had several polyps removed. I met with my genetics doc yesterday, and will stay in touch with her every couple of years. I get colonoscopies every 3 years. At this point, all I can do is be vigilant, which I am. I'm happy to have the information. I'm sure when I see my genetics doc in 2 years (good Lord willing) there will be a ton of new information. Fascinating field!

  • Alh
    Alh Member Posts: 4
    edited December 2015

    hi I'm chek2 positive AND brca2 positive, just found out myself and navigating through scheduling multiple screenings, as well as scheduling w a surgeon for prophylactic surgery ...probably breast + ovaries. From limited info I can gather, there seems to be different mutations, mine reads on the report as Del 8-9, not the 1100delc I keep seeing. Do you know what yours is?

  • gnatmo
    gnatmo Member Posts: 10
    edited January 2016

    I also have the CHEK2 mutation. (1100delC) I was already planning to get a bilateral mastectomy because I had an aunt who dies in February from a recurrence of breast cancer (also recurred in her lungs- she probably had the Chek2 mutation too, but was never tested). I finished chemotherapy in November and just started radiation last week. Doing radiation scares the crap out of me, really, because this gene is supposed to be a tumor suppressor, but its mutant- so it lets tumors grow instead of squashing them. How do tumors grow? by DNA damage. What does radiation do- damage DNA. Unfortunately there isn't much information on CHEK2 mutations and how to best treat patients who have them. So I just follow the standard course and do my best and trudge on...


    I did start a CHEK2 mutation group on Facebook, in hopes of finding people who have this genetic issue not related to just breast cancer.

  • ditzy
    ditzy Member Posts: 8
    edited January 2016

    Thank you for replying ladies, sorry I haven't been on this forum for a while I lost the link!!!

    It seems that all of us have a different story to tell, just shows that that cancer can affect us all in different ways. I find it quite frustrating that there isn't more info given about CHEK2, My genetic counsellor told me they don't know much, only the other areas that would be at higher risk.

    Just waiting for my hysterectomy and colonoscopy as my previous dates were cancelled, can't wait to get it over with.

    Alh I don't know what del is, that was never mentioned to me, only that I have CHEK2!!

    Wishing you all well, please stay in touch

    xxx

  • BethL
    BethL Member Posts: 286
    edited February 2016

    just found out thus morning that I too am Chek2 +. I've has breast cancer twice so I'm not that surprised but I've never even heard of this before. I had a bmx on December and my mom is now getting tested. What other screening should I be getting?

  • ditzy
    ditzy Member Posts: 8
    edited February 2016

    Hi Beth

    I had never heard of this before either and my genetic counsellor has told me they don't know much about it!!!

    They have told me that it puts me in a higher risk of, thyroid, womb, kidney and bowel cancer and of course breast cancer which was why I was tested in the first place.

    I have had ultra sound scans and now waiting for a colonoscopy and a hysterectomy (preventive surgery). It does concern me that my breast cancer may return and as I have had a bilateral mastectomy with recon I wonder how I will know!!! Almost wish I hadn't bothered with the recon but felt at the time it was the right thing to do. My 2 daughters have been tested and are clear, so pleased about that as that was my main concern.

    Are you seeing a genetic consultant? They should advise you of scans you need or your GP should have been informed and can make those appointments for you.

    Let me know how you get on

    Best wishes Erica xx

  • ditzy
    ditzy Member Posts: 8
    edited February 2016

    Hi Veronica

    I hope you are keeping well and getting the screenings that you need.

    Have you found out any more about CHEK2?

    xx

  • BethL
    BethL Member Posts: 286
    edited February 2016

    The genetic counselor just said my mom should be tested. He said the possible associated cancers weren't proven. I'm confused. I'm almost 50 so I guess colonoscopy is due soon anyway. I've been followed for a goiter. My thyroid has multiple nodules. Looks like I have an adams apple. Was biopsied 12 years and was negative. I hate this. Should I go to my gp, or wait for MO to advise me?

  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited February 2016

    BethL, When I found out that I had the Chek2 and PALB2 mutations, I notified all my doctors, including my specialists. I have nodules on my thyroid also, which have been followed for several years. My mother had thyroid cancer when she was 48. There is a LOT of colon cancer in my family, so my GI doctor has advised colonoscopies every 3 years starting in Nov. I saw a GYN yesterday to discuss ovary removal (since my BC is ER+) or full hyst. I have 2 sisters, a grandmother, and grandmother's sister who had uterine cancer. One sister also had BC 3 years ago. The GYN recommends full hyst later this summer. <le sigh> When they get done with me I'm gonna be a boy...

  • BarredOwl
    BarredOwl Member Posts: 2,433
    edited March 2016

    BethL:

    Is the mutation you have known to be "pathogenic"?

    If deemed "pathogenic", is it a common mutation for which the associated risks have been characterized and reported, or is it a less common and less well-characterized variant in terms of the nature (what cancers) and degree of risk conferred?

    If you don't already have it, please be sure to request copies of the test results and all associated documentation for your review and records.

    BarredOwl

  • HopefulCA
    HopefulCA Member Posts: 2
    edited February 2016

    Hi! I have the chek2 mutation as well. There aren't many of us! We just started a "chek2 mutation support group" on Facebook. There's several ladies with and without cancer who have the gene. Mostly colon and breast cancer. It would be great if any of you could join :) We aren't alone anymore ladies ♡♡♡♡♡ xoxo

  • ditzy
    ditzy Member Posts: 8
    edited February 2016

    Hi HopefulCA

    Thanks for posting

    I will look on face book for this site as it's always good to hear what others know or are going through.

    I finally have my colonoscopy date so that will be another test done and out the way lol

    Take care

    Erica xx


  • Ljake
    Ljake Member Posts: 1
    edited February 2016

    Hi, I learned that I was Chek2 positive last summer. I have one aunt with ovarian cancer in her 70s but no other known cancer in my family. I have had multiple lumpectomies and 15 biopsies over the past three years (all papillomas, radial scars) that led me to look at gene mutations. I recently made the decision to have a double mastectomy and am two weeks post surgery today, I feel relieved, happy .I do want to share with the group that I had a battle with my insurance company to cover prophylactic double mastectomy and reconstruction for Chek2 mutation. The insurance companies follow the NCCN guidelines and as of now the guidelines don't recommend mastectomy as course of action for Chek2 mutation. So if you are looking at this as an option talk with your health insurance carrier first. My surgeon - who is an extraordinary person and advocate - helped me fight this and she believes that things will change over time but we are not there yet like we are BRAC. I hope that my experience will help others.

  • Moderators
    Moderators Member Posts: 25,912
    edited February 2016

    We really appreciate you sharing your experience, Ljake. We wish you a good, and fast, recovery!

  • loriekg
    loriekg Member Posts: 263
    edited February 2016

    Hi ladies...

    I tested positive for the CHEK2 gene last year after my diagnosis. Both of my maternal aunts had BC (one when she was in her 40's and had a recurrence 20 years later, and my other aunt when she was in her 60's). According to my report the mutation is c.1100del (p.Thr367Metfs*15)

    I'm going to check out the Facebook page! --Lorie

  • Moderators
    Moderators Member Posts: 25,912
    edited March 2016

    Hope you do not mind us asking, but what is it about the FB groups that you like, and how are they fulfilling something additional/different/better/ than the discussion boards here?

    We really appreciate your insights!

  • Hopeismyname
    Hopeismyname Member Posts: 11
    edited April 2016

    Hello beautiful ladies,

    First of all, thank you for all your support!

    I'm 38, I was diagnosed with BC last year and I'm also CHEK 2 positive. I only have a cousin with BC and an aunt passed away from stage IV stomach ca. Now I'm very worried about my sister, my mom and my 2 little daughters (2 and 4). My sister is very hesitant to have the genetic testing done, she is in her early 30's and has no kids yet, genetic counselor unclear about when can I check my daughters.

    Stay strong everybody!

    Xoxo

  • BethL
    BethL Member Posts: 286
    edited April 2016

    Moderators- I did join the fb site for chek2. Not everyone there has breast cancer and I wanted more information on the mutation, especially in planning testing and screening for my kids. So it just is another source of information with some great women. I also like that the site is closed, no one can read what we write unless they are aporoved to join. Having said that, it doesn't replace the support I get here, it's just a different source of support.

    My update. ... Thyroid goiter is stable, colonoscopy and endoscopy are scheduled for next Friday, yippee !!! And I meet with gyn onc the end of the month to discuss oopherectomy at the same time as my exchange surgery, as there's a possible connection to chek2 and I'm onovarian suppression now. Ugh. Haven't gotten my kids tested yet, one step at a time.

  • Moderators
    Moderators Member Posts: 25,912
    edited April 2016

    Thank you, BethL, for your helpful insight! We truly appreciate it.

    The Mods

  • goldeelox22
    goldeelox22 Member Posts: 7
    edited June 2016

    I just requested to join the Facebook group. I was just diagnosed with CHEK2 gene 3 days ago. I had a lumpectomy on right breast in January of 2016. No breast cancer but 2 of the markers for it. I have LCIS and atypical hyperplasia. Also an unknown something in there. MRI yesterday. Awaiting results today. Suggested double prophylactic mastectomy for me.

  • Becca20117
    Becca20117 Member Posts: 1
    edited July 2016

    Hi all, I recently got my genetics testing back with a CHEK2 mutation. Mom and both her half-sisters had breast cancer at a young age, and three of their daughters as well, so obviously there's evidence of a strong family history. I do not have BC myself. I'm wondering what other women in this situation are considering for preventative and precautionary measures? I was already considering prophylactic mastectomy due to the family history. Now I feel even more concerned. Can anyone share your decision/thoughts?

  • Moderators
    Moderators Member Posts: 25,912
    edited July 2016

    Hi Becca,

    We just wanted to welcome you to the Community -- you're sure to get some helpful thoughts soon from other members managing a CHEK2 positive test.

    --The Mods

  • flaviarose
    flaviarose Member Posts: 442
    edited July 2016

    I am chek2 positive. My dad and his brother had prostate cancer, their sister died at age 49 of ovarian cancer. My dad had a cousin with colon cancer, and a cousin and aunt with uterine cancer

  • ktfelder
    ktfelder Member Posts: 45
    edited September 2016

    I am Chek2 (c.1100del) positive. I had thyroid cancer in my 30s and breast cancer 2+ years ago. My first colonoscopy was 2 years ago. They found a very large SSA (precancerous aggressive adenoma). They removed it and told me to come back in one year. I went back this past January and there was a new very large SSA. The internist sent me for genetic screening due to my 2 cancers and my body trying to get a 3rd. I went back to my oncologist with my Chek2 diagnosis and she said at a minimum I need annual mammogram and annual MRI, and to think about prophylactic mastectomy. We decided I should come back in 4 months. Within that 4 months both of my mother's sisters have had mastectomies - one with a new cancer and one with a reoccurence, but this time it's triple negative. My mother died of lung cancer at age 65. I am 60 years old and feel like a ticking time bomb. Honestly, the colon cancer scares me the most, but the only one I can do anything about is the breast cancer so I plan to have the mastectomy. The question is, when? Also, my original breast surgeon retired, so I have to find one. Plus I'm self-employed so being out of commission for a few weeks is a real concern. I need a place where I can talk to others in similar circumstances, without scaring someone newly diagnosed.


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