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High Risk Without Gene Mutations

littlehouseontheprairie Member Posts: 6

Hi Everyone. New here and looking for some support. I have an incredibly strong history of breast cancer in my maternal line - Great grandmothers at least 3 generations back as well as some of their sisters, Grandmother died age 35, Great Aunt DX in her 60s, Mom in 60s, Aunt in 50s, and now my sister has been diagnosed age 33. My paternal grandmother died of BC in her 50s, and there are a few other cancers in my family, too. My mom, aunt and sister have the CHEK 2 mutation. My gene test came back clear. I've been on 6 month follow ups for BIRADS 3 cysts and calcifications but nothing scarier than that yet. However, I'm being told that since my family history is so strong, and since we do not know which of my other relatives were CHEK 2 +, that I am still high risk. I have extreme health anxiety and literally sobbed at my last mammogram (it was right after my sister was diagnosed). Is anyone else in a similar position? What measures did you ultimately take? I will be meeting with a high risk team in the New Year, will of course ultimately follow their recommendations but would love to go in armed with some knowledge or advice.


  • salamandra
    salamandra Member Posts: 723

    The maternal side of my family was very small (just mother and grandmother) but had a 100% rate of breast cancer. My grandmother was older (mid 70s) and she survived, my mother was younger (early 50s) and died.

    On some proprietary genetics test my gynecologist's office ran, I came back with no known genetic risks but a 57% lifetime chance of cancer.

    As chance happened, that result was found at exactly the same time my actual breast cancer was found!

    I think there is still more unknown than known to genetic risk profiles, and to causes of breast cancer in general.

    In conversation with my doctor, I decided to do lumpectomy with radiation and keep my breasts despite the higher risk. On the other hand, I am also doing an annual MRI in addition to an annual mammogram (spaced apart), because of that higher risk. I am now getting close to my 5th year on endocrine drugs, and I have not discussed with my doctor yet but I hope to stay on them for as long as I can tolerate them.

    I expect they might offer you intensified screening (MRIs), prophylactic mastectomy, and/or prophylactic hormonal drugs.

    These are all great tools, and hopefully they'll also give you sufficient counseling to decide what works best for you. For me, I realized I really wanted to keep my breasts, and while the MRIs/screening aren't great in terms of anxiety, for me it's manageable and worth it. But screening in general can be very anxiety-provoking, and MRIs in particular - with their high rate of false positives and just the physical experience that some people find really challenging - and might not be worth it for you.

    In terms of the hormonal drugs - if I had not immediately tested positive for cancer, I think/hope that I would have tried them. While the first couple I tried had bad side effects for me, the one I'm on now is tolerable, and would totally have been worth it if it could have avoided the cancer and the lifelong specter of recurrence. But side effects are a trial and error thing - the same drug will be like a sugar pill for one woman and like a sledgehammer for another, and there's no way to know in advance what will work for you. I could also see that depending on the nature of your anxiety, taking a pill every day might either be helpful (feeling of doing something) or triggering (constant reminder).

    Many good cancer centers have an in-house psychiatric team who is experienced specifically with helping people like us. If yours does, USE IT. If it doesn't, look for an alternative. Get a friend or social worker (Sharsheret is good and free) to help you find mental health support that works with your insurance, if it's daunting to you. This is complex, emotional, scary stuff - and we should use whatever help we can get!

    I think the most crucial advice in general is to keep working on the medical anxiety. Anxiety is a beast. It can make you miserable even if cancer never gets you, and health issues tend to just increase in frequency and scariness as we age no matter what. So give yourself a huge pat on the back for following up and taking care of yourself through your anxiety, and keep doing whatever you can to increase your coping and support mechanisms.

    Good luck! Keep us posted if you can! Heart

  • Thank you so much for sharing all of this and I'm glad you're doing well and have found a plan that works for you. I will for sure keep everyone posted!!

  • GreenEyes81
    GreenEyes81 Member Posts: 66

    Ultimately, seek what will give you peace. My genetic testing was also cousin just had same cancer this last summer and got genetic testing. Four years later....still came back negative. Of my dads 6 siblings, 4 have had one if not more cancers including several breast cancers dx, one of them had a daughter that just had breast cancer (my cousin). My grandma also had ovarian cancer. They just pretty much treat me as if I had a positive genetic test and have told me someday I will get the call and they will tell me what gene it is.

    I had breast cancer at 36, 5 months later a recurrence. Currently 41, and having a biopsy Tuesday. I'm not that hopeful right now. It looks just like the malignant ones on ultrasound.

    The stress and anxiety is real. You may get the option of a double mastectomy----if it will give you peace it might be an option. But if you will still have stress...then don't do it. Even if you have a double mastectomy you will still need to be monitored. The tests will not go away. If a doctor tells you they will--get a new doctor. My recurrence was after my mastectomy. It reduces risk...but it is not 100%.

    Sorry we don't have an answer for you, just know you are not alone.

  • Thank you so much for your reply, greeneyes81. I have now been offered a mastectomy and am moving towards that. I will update with my final decision in case it can help others. In the meantime, I'm so sorry you are dealing with this, will think good thoughts for Tuesday and please keep us posted. xxx

  • GreenEyes81
    GreenEyes81 Member Posts: 66

    ty, good luck

  • pjc5399
    pjc5399 Member Posts: 32

    Not really your situation but I have a strong history of breast cancer on the maternal side and there is a known brca2 mutation that I don’t have (mother’s cousins have it, unknown if my grandmother and her two sisters, great grandmother and aunt had it but they all had BC…my grandmother twice in different breasts, 10 years apart…and loads of other cancers too). Yet, I have dcis (grade 3, ER/PR/Her2 -) Had a bilateral mastectomy yesterday and waiting on the final pathology results. I know the mri and mammo said possible microinvasion. They did decide to do all the genetic testing on me due to the triple negative combined with the family history. I was only tested previously for the one mutation and they have so many other things they test for now. So waiting on that. I’m not really expecting anything but who knows. I can absolutely understand your feelings on this. I had always felt it was something that would happen eventually (although not having the brca2 mutation gave me some peace of mind) and thought about a prophylactic Mx. I instead chose to remain diligent. Hopefully, this was caught early and the mastectomy is the end of treatment for me.

  • momgoose
    momgoose Member Posts: 71

    I'm in this camp as well. My maternal grandmother had breast cancer at around 70, had a single mastectomy and lived to be about 90, dying of something other than cancer. My mom had LCIS around age 53 and took 5 years of tamoxifen with a lumpectomy and is doing just fine nearly 20 years later. I was diagnosed with IDC stage 1/grade 1 with no lymph node invasion and opted for a double mastectomy. I am 2+ weeks out from that surgery and still waiting for my oncotype score. I am negative for all the known genetic gynecologic cancers (was tested prior to a hysterectomy a couple of years earlier) but I firmly believe there are plenty of genetic links that are not yet known. The fact that my two closest female relatives have had breast cancer (that is apparently not super aggressive) and now I have it as well, cannot just be coincidence, in my opinion.

    I think the post from salamandra had some great advice, as have all the others who have responded, I just wanted to share that you are not alone.


  • edwards750
    edwards750 Member Posts: 1,568

    I have risk factors too in that my mother, aunt and my sister all had breast cancer. I was told by a MO that 70% of the breast cancer patients did not have genetic connections. Hard to believe but that’s what I was told.


  • mavericksmom
    mavericksmom Member Posts: 1,045

    littlehouseontheprairie, genetic defects only account for some causes of multiple cancers within a family.

    I was the first in my immediate family to be diagnosed with any type of cancer. I was 49, premenopausal. with 1cm IDC found on routine mammogram. The month I had my surgery, my mother was diagnosed with the same at age 82. A year from the day of my biopsy, my sister in TX had a biopsy. She was diagnosed with breast cancer at age 59, IDC. When they did the sentinel node biopsy, they took four nodes. One was positive for breast cancer but all four were positive for non-Hodgkin's lymphoma. She ended up getting a third, very rare cancer from all the radiation she had for the other two and passed away at age 66. Then I was diagnosed again, 15 1/2 years after my IDC with a new cancer, same breast, ILC. My second oldest sister was diagnosed with IDC at age 73 a few months after my mastectomy. I was diagnosed for a THIRD time, this past August with DCIS with microinvasion, in my only remaining breast. I had my second mastectomy in October of 2022.

    My mother and second oldest sister could have been diagnosed due to age and increasing risk with age. I don't know. I also have one maternal cousin who was diagnosed with breast cancer at an early age.

    I went through genetic counseling and testing, and I am very glad I did. I had 54 genes tested and none had any defective genes. Good news for my children and grandchildren.

    The point is genetic mutations are only one reason for a high-risk diagnosis. Science is wonderful and medicine has come a very long way in the 20 years between my first and third diagnosis, but there is so much more to learn.

    My advice to anyone with strong family history of breast cancer, find a great breast surgeon, see a genetic counselor if recommended, but follow the advice given by doctors you trust. There are no solid rules to follow in our case.

    My odds of getting cancer a second time, or a third time, were slim, less than 10% without taking AI, but they occurred anyway. I had stopped taking AI's because I thought the odds were on my side, after all, 10% chance of recurrence or new Dx meant 90% chance it wouldn't happen. The odds were against me, and I was diagnosed a third time. I am back on Aromatase Inhibitors again, and will stay on them unless they make my life totally unbearable. So far, so good.

    BTW, my odds were not good for biopsy either. Remember how they tell you 80% of biopsies are negative? Well, mine were 3 for 3 with positive results! I hope biopsies are now a thing of the past for me.

  • exbrnxgrl
    exbrnxgrl Member Posts: 4,641

    Actually edwards750, it's not that hard to believe. What you have to bear in mind is that not all genetic mutations have been identified yet. When I was first dx'ed, the were only testing for BRCA 1&2. Now, genetic panels test for some 30+ mutations. Like you, I have family history of bc and I belong to an ethno/religious minority with a higher than average occurrenceof BRCA 1. All my genetic testing has been negative thus far. But, that doesn't mean more mutations won't be found over time. We can only work with what is currently known but that leaves plenty of room for future discoveries. Does that make sense?

  • Wanted to update everyone - I ended up being assessed at 31 % lifetime risk, which was enough for me to decide on mastectomy. I'm one week out, feeling as OK as possible and happy to answer any questions, any time! My pathology was clear other than some ALH, which still makes me feel I did the right thing for me personally.

  • mavericksmom
    mavericksmom Member Posts: 1,045

    littlehouseontheprairie, woohoo!!!!! I'm so glad you decided on mastectomy! Why spend the rest of your life with a huge boulder on your shoulder? While it is still possible to get breast cancer again, it greatly lessens the risk! I am so glad both of mine are gone!

    We must have had surgery about the same time. I had a much less stressful surgery, exchange of my expander with liposuction and mapping of my arms to check my lymph system, a little over a week ago. It wasn't without some unexpected issues, but nothing drastic.

    We will live to see another day and not have to worry constantly about breast cancer surprising us! Such a great feeling!!!!

    I hope you stay in touch to let us know how you are doing! Your experience could be just what someone else, who isn't currently thinking about breast cancer, might need to hear sometime in the future!