Genetics and Breast Cancer – Chek 2 1100 delc gene

Last winter, I received a call from my geneticist saying, “Well, Denise, we finally know why you got breast cancer.”   I have the same genetic mutation my sister has – Chek 2 1100 delc      Our mom, who also had breast cancer in the 3.5 years myself, my mom and sister were all diagnosed, does NOT have the gene mutation.  Mom’s breast  cancer was a “fluke” or luck of the draw, much like the 80% of women who get breast cancer.

My sister’s breast cancer and my breast cancers were not.  The genetic mutation came from my beloved deceased father’s side of the family.  It was no surprise, though.  My Aunt Ginny who worked in the medical field always used to call all the cancer in the family “the cancer gene.”  Well, she was right!  She died from cancer in her 60s.  I sure would like to talk with her about this!  She would be fascinated!  However, the Chek 2 or Checkpoint Kinase 2 gene was not discovered until 1999, a year after Aunt Ginny died.  However, much is known about this mutation in a very short time.

In some respects it is freeing as you are relieved from that thinking “what did I do to cause my breast cancer?”

geneticssymbol

 

Diann, my sister,  was diagnosed at age 55 and 3 months.  I was diagnosed at age 55 and 4 months.  We are the first people to ever have breast cancer on my father’s side of the family, however, four of the six siblings of my father (including my father) all died of various types of cancer. that fit with the “profile” of Chek 2 1100 delc mutation.  My cousin, Linda, was diagnosed with kidney cancer at age 55 and 1 month.

It is a game of percentages – if a parent has the gene mutation their children have a 50% chance of getting it.

One of the first questions I asked of my geneticist was this:   If my great-grandfather was exposed to toxic chemicals and then conceived children, could the gene mutation be caused from the toxic chemicals and then passed to his children.  The answer was YES either chemicals, or radiation or UV Rays are also causes.   The FIRST thing that popped into my mind was that most of us use chemicals on our lawns!!

So what does this mean for me and my sister?  It means that doctors recommend that my sister have a double mastectomy (which she did) and that I have my other breast removed for starters (within the next 8 months).  My Oncologist said that he has spent his career encouraging women to keep their breasts, but that in our cases, he strongly urges us to have these surgeries.

It means much more than that, but to be honest, I cannot process all of it right now.  I am who I am Chek 2 gene mutation and all.

 

 

 

 

 

 

 

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6 comments

  1. Hi Denise, I’m so sorry you and your sister were dealt that hand. I think of you often and hope you quickly recover from your mastectomy. Thank you for all your help over the years. Love, Katie Brown

    Sent from my iPad

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    • Hi Katie – I hold you near and dear to my heart! So glad to hear from you. Every time I see something on TV about your area,
      I think of you and wonder how you and your husband are! Thanks for your kind words! You are always such a light!
      Hoping life is bringing you more of that light! Love Denise

  2. Denise- I am so thankful and so enjoy reading your posts. Today is my “cancer-versary” 1 year. I have a “variance” on the PALB2 gene, still waiting on news one way or the other on it. I had a cousin with BC recently re-do all the gene testing and included this one, she came back negative. So like you hmmmm….maybe something on my father’s side (my mom had BC twice and colon cancer, dad prostate- both have passed). Again thank you for sharing your story as it helps so many of us along our own journeys!

    • Thanks, Kelly! Happy CANCERVERSARY! Always a day of mixed feelings!! I am glad you did have the
      genetic testing – I am hearing more and more about the PALB2 gene. I will have to read more about it!
      Thanks for your kind words – life will continue to get better – I PROMISE! All my best wishes – thanks
      for your kind words! Denise

  3. Denise, I’ve been following your blog and have been a customer of your store since my stage 3 IDC diagnosis in December 2015. I did the whole “slash/burn/poison” protocol and ended active treatment in October 2016. I had a bilateral mastectomy with left axillary dissection (now have to be ever-vigilant about lymphedema) against my medical oncologist’s recommendation (my surgical oncologist and my gynecologist were completely supportive). My med onc was so against the removal of my “healthy” breast that she actually badgered me about it at every visit, even until my first post-op visit! I finally told her that I wanted to be symmetrical, knowing she wouldn’t have much of an argument about that!

    After a year of recovery, I recently had a hysterectomy to treat pelvic floor prolapse–I had everything removed as I’m post-menopausal and am on an aromatase inhibitor anyway. I’m having a few complications from the reconstruction surgery, but I’m less than two weeks post-op so I hope that’ll resolve soon. I had originally thought I’d do DIEP flap reconstruction but after this last surgery I decided “no”– no more elective surgeries for me! But I am so grateful that I removed both breasts, and that I’ll never have to worry about ovarian, cervical, or uterine cancer (uterine cancer does seem to be in our family).

    I had genetic testing done in conjunction with my BC diagnosis because literally everyone on my mom’s side has had or has died from cancer (conversely, everyone on my dad’s side has had/succumbed from heart disease). I had one gene variant detected, of “unknown” significance, which I’d been told ahead of time was a likely outcome. Since I read your new post today, I went back and dug through my test results. My variant isn’t the CHEK2, but when I plugged mine into a Google search it does seem to have a link to gastric cancer (two family members have had pancreatic cancer. Hmmm.) I think in the future they’ll probably do enough research to upgrade their findings from “unknown” significance to “known” significance.

    Thank you again for an informative post. And best wishes to you, no matter what you ultimately decide to do!

    • Hi Pam – I remember you – so nice to have an update! You have been through ALOT – I am glad you chose what was best for you –
      to have both breasts removed!
      Oh interesting about your genetic findings. My sister and my geneticist said that often they haven’t discovered the genes
      that you have – give them a few years! So because they find things so often, it is good to have those tests redone in the future!
      May healing come to you Pam! It gets better. Life returns in a different form!
      Thanks for the update! Do keep in tough! My best, Denise

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