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Discussion For Brca 1 And 2 Gene Mutation

Discussion in 'Health & Wellness' started by madhat, Nov 29, 2022.

  1. madhat

    madhat Platinum IL'ite

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    Hi Everyone,

    I thought I can start a discussion here for anyone who wants to discuss their problems because they carry the BRCA 1 or BRCA2 gene mutations. These mutations cause the person to be at a high risk for Breast [1] or ovarian [2] cancer.

    Let me start my situation.

    My aunt and mom passed away from breast cancer, one after the other within the span of 5 years. So my sister and I decided to get tested for the gene which carries the mutation responsible for this risk. we found out unfortunately that we carry the bloody gene- BRCA1.

    So I have been going for breast mri and mamo's every year since 2014. My high risk doctor kept asking me when I would get my mastectomy done as a preventive measure. I kept telling her that I am doing the mri and mammo for now as that surgery is a big one and recovery takes time. I don't have any immediate family member to also take care of me.

    But I got both my ovaries and fallopian tubes removed in 2016 and on hormone replacement therapy till now.
    So every year the mri and mamo's came out regular and there was no problem. This year they found something in the mri and could not see it in the mamo, so they asked me to do an ultrasound. they did not see anything in the ultrasound but still sent me for a biopsy under the mri. This was totally traumatic. I underwent this last week and waiting for the biopsy results in even more traumatic.

    So I go to see my doctor today and she said everything was normal. They found something called Atypical lobular hyperplasia [ALH] involving ducts and focal periductal inflammation. They also planted a small titanium clip in that place to know later that they have looked at that spot.

    Now my doctor is sending me to a surgeon who is going to look at this again and decide whether they need to do another biopsy or just monitor this or do a surgery.

    Can anyone relate to this? You can discuss your thoughts, experiences or opinions.
    Any doctors in this forum please chip in.

    Thanks
     
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  2. SGBV

    SGBV IL Hall of Fame

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    Unfortunately I have nothing to share from my personal experience here. But, I have a point which may be of help; hence sharing it here.

    I have undergone hysterectomy in May, and removed my uterus, both ovaries and fallopian tubes. My doctor asked me to wait and see whether my body can cope with the hormonal changes for 6 months and didn't prescribe any hormone replacement pills.
    I am 40, and I had all the struggle under the sun in the first 3 months of the surgery because of hormone fluctuations.
    But, they subsided and I have learnt to live with them now.

    I will have my post surgery check up in December, and decide what next. Perhaps a calcium replacement or other vitamin supplements, but I am not sure of HRT for the one reason that it can increase the risk of breast cancer.

    Since you are under the risk category, I would suggest you to double check this HRT option.

    Besides, I heard hysterectomy reduces the chances of breast cancer in women.
     
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  3. madhat

    madhat Platinum IL'ite

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    Thanks for sharing your experience @SGBV

    I am choosing to monitor this for now. Being 49, my ob/gyn suggested last yr itself that I can stop the HRT. I was the one who continued it as it was only a tiny amount. I still have my uterus intact.

    Here they make a big deal of hot flashes. Yes, it is a big hurdle to go through but you need to ignore it and get going with your life. That is what I think. I think it may be the Indian woman mentality in me because we have seen women in our family go through it too.

    Going for mri and mammo every year becomes a necessary evil. sometimes false positives ruin your state of mind. This is why they are asking me to get a mastectomy done.
    Are these doctors simply nit picking? My friends all say to keep myself monitored and not to keep worrying about it.

    I am leaving everything to GOD and going to keep monitoring myself.
     
  4. chanchitra

    chanchitra Platinum IL'ite

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    You don't need to do mastectomy just because the surgeon is telling you to do so. Do you live in USA?
    Already you are on top of this with regular mammograms.
     
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  5. MalStrom

    MalStrom IL Hall of Fame

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    I am sorry for what you are going through, OP.
    How you manage depends on your comfort level. There is no perfect answer.
    One of my friends was recently diagnosed with breast cancer. She is under 40, with no family or genetic history and it was localized and caught very early. The surgeon recommended only lumpectomy and radiation but she insisted on a double mastectomy as she wanted to really minimize the risk. It is not a trivial surgery however. The recovery has been quite rough for her. Another coworker had a successful lumpectomy and follow up treatment almost 8 years ago and she has been cancer-free ever since.
    It looks like you have a good plan for monitoring. If it gives you peace of mind maybe you can try to get a second opinion of how to proceed.
     
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  6. madhat

    madhat Platinum IL'ite

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    Thank you @chanchitra for responding. I live in Canada. since I have the BRCA 1 mutation, I have been going for mamo's and mri's every year. sometimes this mri can be irritating and give you false positives. so the doctors say, to prevent this anxiety get a mastectomy done. My friends in India who have had mom's pass away from the big C have not had this BRCA mutation test done. They are leading a happy carefree life. I sometimes feel like running away from this country because the doctors seem to be over recommending things.

    Thanks for sharing your friends and coworkers experiences @MalStrom .
    i have been having this mamo and mri since 2014 now. regularly every year. I am also resorting to GOD now with a very strong belief that he will always protect me.

    I don't know of a good doc in India who can give me a second opinion.
     
  7. chanchitra

    chanchitra Platinum IL'ite

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    This genetic test is very important.
    Do the mammogram every year.
    In USA too, the Dr's are over vigilant and keep pushing for surgery.

    It's your Decision finally. No one should force you
     
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  8. 1Sandhya

    1Sandhya Platinum IL'ite

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    @madhat
    That is a pretty serious diagnosis. I don't know anyone personally who had a similar diagnosis. But whoever I heard of celebrity or non indian who had this diagnosis went for a mastectomy as apparently developing cancer is near certainty. From what I understand, (and I could be wrong) people who have this mutation develop the cancer again and again. ie. they get the cancer, beat it, live cancer free for few years and then the cancer comes back. And this happens 2-3 times. From what I understand, each recurrence is even more virulent and aggressive and harder to beat. The person undergoes a lot of pain and suffering, as do their families. This pattern of remission and recovery happened in a small group of people who got BC, not all, and when the scientists analyzed their dna they were all found to be carrying this mutation. That is why, per my understanding, current wisdom dictates a mastectomy right off the bat before the first time cancer is developed is the only way to avoid so much needless suffering and trauma, and survive this type of mutation. I know many non indian women who based on a family history of BC have had themselves checked for this mutation, and gone for a double mastectomy when discovered that they have it. The point about going for a mastectomy right off the bat is because once cancer develops it can creep into some other part of the body and recur as a different type of cancer. So there is a small window of opportunity for you here. I would advise you to consider your options seriously. I would strongly encourage you to look further, check in breast cancer forums and read the survivor stories. I am sure there are thriving communities of BC survivors both in your area associated with your local hospitals as well as online. In addition there are many nonprofits that cater specifically to BC survivors who will have additional information for you -anecdotal, latest research, latest drugs, whatnot.

    My personal appeal to you and all reading this is - Please don't dismiss it as 'the US doctors are hyper and needlessly pushing surgeries'. In my experience the medical care in US is geared towards extending the quality of your life and preventive care. So yes they diagnose you and give you important information about where your health is trending long before it becomes an issue. It is meant to empower you so you can control your life and make the appropriate decisions, not disable you with fear. Please dont compare with your India friends who are living a carefree life. Maybe their ignorance is bliss but I also know of families on whom a diagnosis has descended like a thunderbolt from heaven and left them shattered and crying - oh if we only knew earlier! Some of these families have not recovered from the shock for years together.

    The extent to which medical science has advanced these days, we all have a right to expect this kind of information routinely from our doctors, no matter where we live. It's also a fact (a sad one) that the information is available to us in the US and not to people in India or other countries. But in India too, there is a lot of fear because of the lack of info, and the lack of the ability to make decisions about personal health and life which is concealed with false bravado and invocations of 'fate' and 'destiny'.

    Look I understand your frustration about the lack of real answers, but use the info to empower yourself would be my advice. Already in the past few years you must have made decisions that kept this diagnosis in mind, you must be changing your patterns and perhaps postponing this fate. I would hit all the BC groups and survivors groups I can find, and get as much info as I can, read all their stories, anecdotes and advice and use that knowledge to come to a decision as to what to do. Also with the discovery of the new mRNA technology, the various cancers are the next target and you never know we may be within sight of a vaccine within the next ten years. Just yesterday I read a news item about Moderna in clinical trials for a skin cancer vaccine and a different one of a girl whose genetic tendency to some horrible cancer was corrected by aggressive basal cell gene therapy. There are remarkable advances taking place nowadays. So dont be frustrated, hang in there, read a lot, educate yourself as to your options, make the changes to your diet and lifestyle that are warranted or make sense. You have been given this knowledge so you can take control of your health and your destiny. Ignorance may be bliss but remember Knowledge is Power!
    Best wishes!
     
    Last edited: Dec 16, 2022
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  9. madhat

    madhat Platinum IL'ite

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    thanks @1Sandhya for the detailed info.

    yes, being a clinical research person myself, I have the info for this. sometimes you know too much info puts you onto an anxiety mode :). so I wanted to post it here to here different viewpoints and experiences. to see if anyone has tested for the BRCA mutation. The people with the HER 2 mutation have the more vigorous and virulent type.

    I am just postponing the decision for now and monitoring it every year. my son is in univ and daughter going to go to univ. so decisions maybe be made after that.

    I am crossing my fingers and toes for a mRNA vaccine too for all types of cancers. wouldn't it be wonderful?
     
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  10. 1Sandhya

    1Sandhya Platinum IL'ite

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    I was reading up more about this because your situation got me curious. Unlike your situation, in the past, the women who found out they had the mutation, went in for testing after watching grandmothers, mothers, aunts and sisters go through needless and extended suffering and pass away, so for them getting a mastectomy was a no brainer. But you seem to not have the family history part.

    Honestly, before I saw your post and did some reading I was under the impression that genetically Indians are mostly untouched by this mutation, because most of the cases I knew of were of Caucasian women of European descent. But now I read that almost 21% of Indian women carry the mutation even if there is no family history. Now I'm wondering whether I should get myself tested too??? And how to manage it here? I am curious how you managed to get tested in the first place, given that you have no family history. Maybe Canadian healthcare is as wonderful as they say and you were given the opportunity... I know that is not the case here in the US.
    So thank you for making this post and raising general awareness about this new possibility in our community.


    You certainly have been given an opportunity, perhaps by God himself to write your fate. It seems to me that @madhat you are on the leading edge of this. Maybe that explains the lack of real answers here. I understand it is overwhelming and anxiety inducing but hang in there! Try to use this knowledge to empower yourself. I totally understand your frustration and worry. In spite of doing everything correctly, you had that near scare this year. its a little worrisome. You are just 49. Again I would urge you to contact nonprofits or support groups in your area or online and get more information instead of deciding in the dark or in isolation. Surely you will find others in the same boat. Ask your doctors for any referrals to support groups. I really feel what you need is information. Good information so you can take a good, timely decision.
    (Also I wouldn't let your worry about a rough recovery or lack of support hold you back. It is what it is. If you need the surgery to have a long fruitful, worry free life watching your kids grow, then just go for it. The older you are the tougher your recovery will be. What I mean is this particular worry about lack of support should not be a factor in your decision about whether to go for a mastectomy. In my opinion, your decision should be solely guided by the latest medical advances and on medical facts.)

    Finally and most importantly, since this is an inherited mutation you should definitely get your DD tested. Have your siblings and cousins gone for testing after your diagnosis?

    Correction to my post above: the teenage leukemia case was cured by base editing, not basal cell gene therapy. I include the link to give you hope. They were able to generate T cells that zeroed in on the cancer and correct it, and the girl is in remission now. Its really amazing.
    Base editing: Revolutionary therapy clears girl's incurable cancer
     
    Last edited: Dec 17, 2022
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