Fam History, BRCA 1/2+, I'm - but DR still wants PBMastectomy??

Options
4BoysMama
4BoysMama Member Posts: 25
edited June 2016 in High Risk for Breast Cancer

Hi Everyone! I am trying to understand a little more clearly how all of this works. I was found to have clusters of microcalcifications at my last mammo, followed up with an MRI which then found two enhancements (one on each side)- during all of this my OB found a mass in my uterus (I had a hysteroscopy and biopsy last week, still waiting on the results). I had a follow up appointment for an MRI guided biopsy for the left side (the larger of the two enhancements) and at that appointment he decided it wasn't dangerous looking and so didn't biopsy. He sent me to genetics/oncology for a consult and testing. The only woman left alive in my family is my cousin (every other cousin, aunt, mother, grandmother, etc- passed away from breast cancer, all varying ages) and she tested BRCA 1&2+. My test came back, a full panel with no BRCA mutation. I had one mutation that was considered "unclassified" but is being watched. I do not know if my cousin has that variant. Anyhow- through all of this my oncologist is still recommending a prophylactic bilateral mastectomy. I thought I read that a negative result in a positive family means my risk is no greater than the general population? I am so overwhelmed and confused- I see articles and reports and so much seems contradictory, I just want to know if I am making the right choice and I'm afraid I won't know it's the "right" choice until it's too late. Thanks so much for reading this :)

· Share on FacebookShare on Twitter

Comments

  • Anonymous
    Anonymous Member Posts: 1,376
    edited May 2016

    4BoysMama - The genetic stuff is so confusing. I have a huge family history of breast cancer, but they really didn't pay attention to all of it until I was diagnosed at 37. They ignored my mom's cousins, etc. (as an only child) when she had been diagnosed earlier. I was BRCA- as was my mom. We went to geneticists and my mom did the full panel for the genes they knew at the time (4yrs ago), and they were negative as well. The geneticist said very plainly though that with our history we had a genetic connection it was just unknown at this time. BRCA is just one of many tests, and they are discovering new connections regularly. Based on that and having gone through multiple biopsies, mri's, etc. every 3-6 months for the last few years, my sister decided to have a PBMX. She has been very happy with her decision. I don't know what the right choice is in your case, but I'm guessing the doctor is thinking in a similar manner to this with his/her suggestion.

    · Share on FacebookShare on Twitter
  • BarredOwl
    BarredOwl Member Posts: 2,433
    edited May 2016

    Hi 4BoysMama:

    These are extremely difficult and personal decisions. I am a layperson with no medical training, but some initial questions that come to mind are:

    (a) Are you and your cousin's test results truly different? Or could one of her "positive" mutation(s) be the same as your "unclassified" variant? The situation should be reviewed to confirm that the current interpretations are accurate.

    The question arises because different test providers may have more or less information available to them about specific variants, and may or may not agree on the proper classification of the exact same variant. Also, over time, more information may become available about a particular variant (either supporting or refuting a prior classification), so that a person who is tested later may receive different information about the same variant (even with the same test provider).

    In the case of an actual conflict in classification of a genetic change, some medical genetic expertise may be required to review the information from providers, current available pre-clinical and clinical evidence regarding the variant, and advise you appropriately.

    If you and your cousin are willing to share results, a genetic counselor or medical geneticist could work with you to evaluate the results and help clarify the situation.

    (b) If as a result of the investigation in step (a), your variant is still considered "unclassified" or a "VUS", then the questions become: What is your estimated risk of breast cancer based on your family history (properly interpreted in light of all available genetic test results and what they do or do not say to a professional with the relevant training in medical genetics)? And, is this level of risk sufficient to warrant a recommendation for prophylactic bilateral mastectomy in your case (e.g., based on current consensus guidelines)? The magnitude of the estimated risk and appropriateness of the recommendation is another fact-specific medical genetics question that only a professional can advise you about.

    My personal feeling is that given the complexity of this very specialized field, a recommendation for prophylactic mastectomy based on family history (even if very strong) may warrant seeking a second expert opinion. (Some insurers might even require one.) If you are in the US, a good option is to look for additional genetic counseling and advice at an NCI-designated cancer center near you:

    http://www.cancer.gov/research/nci-role/cancer-centers/find

    Obtaining answers to all your questions, and the opportunity for additional discussion via a second opinion will hopefully increase your understanding of the test results, family history, estimated risk, and appropriate risk reduction options, and provide additional perspective and input of value to help you reach a decision about what is best for you.

    Good luck!

    BarredOwl

    · Share on FacebookShare on Twitter
  • 4BoysMama
    4BoysMama Member Posts: 25
    edited May 2016

    Thank you so much both of you for your thoughtful words. I have written a list of questions out and I will take those to my next appointment. BarredOwl- I called the closest center to me (UCI, I'm in CA) and they're going to start the process of getting me in for a consult/2nd opinion. I have a follow up mammo soon for those calcifications so hopefully that can help buy me some time to think about things (assuming it still looks good!). Thank you both again for writing back

    · Share on FacebookShare on Twitter
  • Momof6littles
    Momof6littles Member Posts: 184
    edited May 2016

    Have you read the book "Cancer in the Family?" By Dr. Theo Ross? I found it very informative. She talks about coming to terms with the unknowns in our situation and making the best decision for you NOW. I actually reached out to her in an email and she has been incredibly helpful. I highly recommend it.

    It's a difficult place to be. Not BRCA positive, but not exactly in the clear. You should definitely speak more to your genetic counselor (or get a new one if necessary). One of the things Dr. Ross speaks about is that genetic testing and counseling is an ongoing thing. There is still much that they don't know. Early on in her journey, she was told their family did not have a genetic component to their cancers (or not one that they could determine). She took that as an all clear. It only meant, we don't know yet. It turned out she was brca1 positive. She is looking for a genetic counselor she can recommend me to that is in my insurance network (I did NOT have a good experience with my last counselor). Like I said she is a terrific doctor and researcher.

    Hang in there. Most of the time, we do have time to make these decisions. It really is a very personal thing.

    · Share on FacebookShare on Twitter
  • 4BoysMama
    4BoysMama Member Posts: 25
    edited June 2016

    Momof6Littles: Okay, I am definitely ordering that book! Since I checked in last I spoke with my genetic counselor and I think I have a lot more of my questions answered. I am feeling pretty solid in my choice and I am thinking that moving forward is the best choice for me. I am so glad to see you back on the boards and I'm going to head over to your post and see how you're doing! Thinking about you and your recovery!!

    · Share on FacebookShare on Twitter
  • llmedeir
    llmedeir Member Posts: 6
    edited June 2016

    I had three aunts die from breast cancer, so I opted to have the BRCA testing done. When it came back positive, it was a very difficult decision to remove "perfectly healthy" breasts. After surgery, lab results showed cancer had begun to form in my left breast. If not for the "perfectly healthy" decision, we would be having a different discussion right now. I think genetic testing is confusing and only you can make the right decision for yourself - but I'm thankful every day I made the one I did

    · Share on FacebookShare on Twitter

Categories