Genetic testing. Why?

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Eigna
Eigna Member Posts: 438
edited September 2019 in Just Diagnosed

I finally had my breast surgeon consult yesterday. It went well. Lumpectomy and sentinel lymph node surgery is set for October 10th. I found out I'm HER2 negative don't know if it's a good thing or bad thing. But it is what it is. However I need to do a genetic test prior to surgery. Don't understand the relevance of this test before surgery. Do any of you know? Doctor said that depending if the results my treatment plan might change. Why? I have no family history of breast cancer.

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  • Gamb
    Gamb Member Posts: 599
    edited September 2019

    Hi eigna, I to was supposed to have lumpectomy with radiation, did genetic testing, which in also thought was dumb because no one in my family had breast cancer . The test came back with a Chek2 genetic mutation that was likely pathogenic, so that changed my surgery to double mastectomy, one for breast cancer one for prophylactic


  • Eigna
    Eigna Member Posts: 438
    edited September 2019

    omg Gamb. You are freaking me out. That changes everything. I would be in shock. How are you dealing with theser results? Are you diagnosed with early stage?

  • mom2bunky
    mom2bunky Member Posts: 189
    edited September 2019

    Hey Eigna. Yes that is one reason. A just in case to be absolutely sure that lumpectomy is the way to go and that you don't have some hidden gene that changes your odds so mastectomy may be better. But what they told me is that the mutations are not common, and so unlikely. Obviously in Gamb's case, she pulled yet another short straw (sorry Gamb, that just sucks). But maybe try to take comfort in the fact that it is supposedly rare.

    Another reason to have it though, and one of the main reasons I did it (there was no family history to suggest any genetic link to my cancer) was because I have nieces. I did it for them as well.

    Oh, and I had no mutations and went with the lumpectomy.

  • Eigna
    Eigna Member Posts: 438
    edited September 2019

    Thanks mom2bunky. Depending of your genetic testing, does it affect if you need chemo or not? How are you feeling 5 months after being diagnosed? I see you are a bit ahead of me onthis journey.

  • Ingerp
    Ingerp Member Posts: 2,624
    edited September 2019

    I didn’t have genetic testing until after I was finished with treatment. I asked my RO why I would do it and she said if it had come back positive for mutation (which it did not), I’d have been monitored more frequently going forward, which I would have welcomed. There’s also a possibility of finding a mutation that’s also correlated with OC, which might suggest hysterectomy/oophorectomy.

  • mom2bunky
    mom2bunky Member Posts: 189
    edited September 2019

    No Eigna there was no discussion of genetic testing with respect to chemo. In my case, an oncotype was ordered on the tumor after it was out to determine whether or not I'd need chemo.

    I'm feeling great thanks. My treatment is finished except for the Tamoxifen I need to take for awhile. It's not causing me too much trouble.

  • edj3
    edj3 Member Posts: 2,076
    edited September 2019

    I opted for the genetic testing because BC was my second primary cancer, and because I have a fair amount of blood cancer in my family history.

    My results showed no known abnormalities.

  • Gamb
    Gamb Member Posts: 599
    edited September 2019

    my bc is stage 2b, I've had double mastectomy and start chemo tomorrow

  • NoWhyToIt
    NoWhyToIt Member Posts: 87
    edited September 2019

    If you are found to have certain mutations you will be advised to have a more aggressive surgery. I think it is essential you do this at least for the most common mutations.

  • SimoneRC
    SimoneRC Member Posts: 419
    edited September 2019

    I came back positive for a mutation that made radiation ill advised and increased the risk of contralateral breast cancer. So my planned lumpectomy with radiation was changed to a mastectomy.

    I believe your chemo status would not have anything to do with the genetic testing. Your post surgical pathology, staging, grading and oncotype are typically variables which are weighed when talking about chemo.

    Good luck and let us know how it goes!



  • santabarbarian
    santabarbarian Member Posts: 3,085
    edited September 2019

    if someone is TNBC they will change chemo based on genetics.... when person is BRCA+ they will often do/ add carboplatin

  • illimae
    illimae Member Posts: 5,710
    edited September 2019

    It could be several reasons but I know I was tested due to family history and being under age 45.

  • Beesie
    Beesie Member Posts: 12,240
    edited September 2019

    Eigna, you are 43, which I think would be the reason for the genetic testing. Most breast cancers aren't caused by an inherited genetic mutation, but the younger you are when diagnosed, the greater the possibility that there might be a genetic mutation behind the diagnosis. Breast cancer (non-inherited) is most common in women in their 60s and 70s. Non-inherited breast cancer can develop in younger women, but when a woman presents with breast cancer in her 20s, 30s or early 40s, it's usual that they want to check to see if by chance there is a genetic cause. If there is, that might lead to a different choice of surgery.

    Are there cancers other than breast cancer in your family, on either parent's side?

  • Eigna
    Eigna Member Posts: 438
    edited September 2019

    All this is freaking me out. If ever I do end up positive for genetic testing I don’t want to end up with a mastectomy. I’m not ready for it definitely. But I don’t want to die either. I have two young boys to take care of. My father has had bladder cancer. That’s all. Totally freaking out

  • Eigna
    Eigna Member Posts: 438
    edited September 2019

    I definitely don’t want to mastectomy

  • mom2bunky
    mom2bunky Member Posts: 189
    edited September 2019

    It's okay to freak out, but then take a deep breath. Try to stay calm until you have all your results and then you can make a plan of action. It's not easy I know.

  • Yogatyme
    Yogatyme Member Posts: 2,349
    edited September 2019

    The genetic testing could help with determining the best treatment for you. I had a very small tumor which would have been treated w lumpectomy & radiation but bc I have the BRCA1 mutation I elected bilateral mastectomy bc brcaputs recurrence risk at 85% for both breasts. The testing could be beneficial for not only you, but other family members, including your sons. They could also have the mutation and while it only increases risk for men by 5%, if they have daughters in the future they could pass the mutation on to them. There is no breast cancer in my family but besides me, my sister, her daughter and my brother all are BRCA1 positive. My brother's daughter is negative. I have also had prophylactic oopherectomy as has my sister and niece bc it is still a silent “killer", meaning that by the time you have symptoms the cancer is very advanced. I don't know about other mutations but this is what I've learned about BRCA1. I know it can be alarming, but taking a proactive approach may save your life. Breathe, breathe, breathe and remember that mutations are the exception and not the rule. Hoping for the best for you!!

  • countdooku
    countdooku Member Posts: 63
    edited September 2019

    If you're under 45 when you're diagnosed, it's recommended to get genetic testing because if you do have a genetic mutation associated with increased odds of developing breast cancer, then that could change the recommended treatment plan. There are about a couple of dozen different mutations associated with increased odds of developing breast cancer, so it's a lot more than BRCA1 and BRCA2 that you hear a lot about in the news.

    What the genetic counselor told me is that it's something like 95% of cancers are NOT caused by a genetic mutation. If they're recommending it, then you should seriously consider doing it. It's really easy. I just had to spit in a plastic tube. 7-10 days later, the results came back.

  • Eigna
    Eigna Member Posts: 438
    edited September 2019

    Countdoku. I’m assuming you were tested positive since you did mastectomy? And younger than 45

  • Elephant
    Elephant Member Posts: 88
    edited September 2019

    The genetic counselor also told me that 95% of cancers are not due to a genetic mutation; if I had tested positive I am pretty sure that I would not have had a mastectomy but would have wanted to be monitored very closely. It turned out that I was negative for some 40 odd genes that they tested, but I am not sure now how much comfort that gives me as I did get breast cancer regardless .

  • Eigna
    Eigna Member Posts: 438
    edited September 2019

    Well. In a week I have an appointment for my genetic test. We shall see

  • MBPooch
    MBPooch Member Posts: 229
    edited September 2019

    Eigna - I don't think there's a right way to navigate any of this. For me my decision of having a BMX was purely driven by knowing that I never wanted to experience any of this again if possible. While no guarantees I wanted to be as aggressive as possible. I have two daughters in High School and a husband that I love to spend time with. We love adventure, sporting events and travel and I want to be able to keep doing those things for a vey long time. There are many stories on this forum and elsewhere of women who have a BMX and are surprised to find out there was cancer detected in the "non-cancerous" breast or women who have lumpectomies and rads only to have a new primary years later on the other side. I didn't want to live in a constant state of what - if and worrying about every ache and pain. Honestly, I still find I do that sometimes! But...I know that I did what I could right now to try to nip this in the bud. I was 45 when diagnosed and was relieved to know that genetic testing was available. I wanted to know for myself and for my daughters if there was anything I could do to be more proactive with my health. I know a BMX isn't your first choice but for what it's worth my recovery was surprisingly easy. I had my surgery on the last day of November, hosted my husbands family for Christmas Eve and went on a NYE vacation. I'm not trying to convince you of anything but just want you to know that depending on the results of your genetic testing a BMX is doable and maybe not as bad as you think. Keep us posted, once you have all your results and your final plan in place you will feel better.

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