BRCA1, BRCA2, Breast cancer, Cancer, Chemotherapy, Genes, Genetics, Health, Mastectomy, Ovarian Cancer

The Geneticist

Yesterday I met the geneticist and took a blood test for the BRCA1 and BRCA2 genes. (BRCA stands for BReast CAncer). Unfortunately, I won’t find out the result for at least another 6-8 weeks, because the test involves extracting my DNA and going through it with a fine-tooth comb in search of a genetic ‘error’ – a process the geneticist likened to “Going through War and Peace and looking for a spelling mistake.”

The geneticist was one of the nicest doctors I’ve met so far during my cancer journey. He started by drawing a family tree with coloured circles for the instances of breast cancer and any other cancers in our family. Based on this, he said there is probably only a 20% chance that I carry one of the breast cancer genes, because my father’s side of the tree is clear of cancer and my mother and aunty have never had cancer. What makes it seem much more probable, however, is that my maternal grandma had breast cancer in her thirties, at a time in the 1960s when breast cancer in young women was even rarer than it is now. I feel instinctively that I have the gene, but I have been known to be wrong on occasion. :/

There was good news and bad news in what the geneticist told me. It is more likely that I have the BRCA2 gene than the BRCA1 gene, based on the type of breast cancer I had. (Grade III, oestrogen-receptor positive, HER2 negative). There are various differences between the two genes, but the positive takeaway for me was that BRCA2 means that it is less likely I will develop ovarian cancer at some point in my life than if I had BRCA1. Interestingly, he also said that BRCA2 gene carriers are much more responsive to chemotherapy.

The bad news is that, if I do test positive for BRCA2, I have a 60-80% chance of developing breast cancer again at some point in my life, compared with the 5% chance that most people have. I would also have an increased chance of developing ovarian cancer, but not until I’m over 40, so I could opt to have my ovaries removed in my 40s.

Double Mastectomy

The chemotherapy and radiotherapy I am having for my breast cancer will reduce the risk of developing another tumour in my left breast to about 30%, but unfortunately my right one would still have the 60-80% risk. Thus, the implication is that if I test positive for the BRCA2 gene, I will have to have a bilateral (i.e. both sides) mastectomy. I have already been thinking about this for a month or so and, although I never imagined I’d have to part with either of my boobs, I am fully prepared to have that operation and get some lovely new ones. It is, however, a huge operation that can involve a 6-month recovery period, but I’ll cross that bridge if and when I come to it.

The fertility specialist I spoke to a couple of months ago said that deciding to be tested for this gene was something many people wouldn’t want to do, but I made the decision pretty quickly that I absolutely want to know, so that I can take the appropriate risk-reduction measures and then get on with my life without the fear that I will develop a second breast cancer. (Note that this has nothing whatsoever to do with the likelihood of my current cancer recurring in a different part of my body at some point down the line – that is a separate matter, but I have been told that my programme of treatment gives me a 90% chance of being clear of recurrence for the next 10 years, which is a start).

As some of you may know, it is breast cancer awareness month in the UK (more of this in a later blog post) so I feel like breast cancer is absolutely everywhere I go at the moment – in every magazine and on lots of daytime TV talk shows, particularly! So I do at least feel that I am not alone. All I can do now is wait, but at least once I know whether I have the gene or not, I will then have the knowledge and power to act accordingly! Let’s just hope those lab doctors crack on with War and Peace and get me an answer ASAP.

In other news, I am feeling much better today. Returning to hospital yesterday for the appointment and test made me feel physically sick, but now, touch wood, I won’t have to go back for another two weeks and can concentrate on getting back to strength again. Time for some cooking therapy!

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11 thoughts on “The Geneticist

  1. Adriana Tomalino says:

    Hola Laura!
    Creo que hacés muy bien en tratar de resolver de la forma más segura y lo antes posible.
    Yo también tomé esa postura y en 1 año ya tenía la cirujía de reparación hecha. Te puedo asegurar que vale la pena.
    Un esfuercito más y vas a estar muy bien!!
    Te mando un beso grande, Adriana.

  2. Liz Walker says:

    Hi Chick,

    Thanks for the last couple of updates,

    The last blog on info your geneticist said to you is very informative, from someone who had cancer a lot in my family, my gran-bowl cancer, my grandad ( on my mum’s side ) – lung cancer, my grandad ( on my dad’s side) – prostate cancer, my dad – prostate cancer then my cousin had skin cancer.
    I would be the same as you and want to know all the facts so I can make an informed disition that would be best for me. I will look at getting tested so I can keep ontop things as it is so big in my family, will look at chatting to my doctor next time I’m there to see what would be best to do in order to keep ontop of checkups. So wanted to thank you for doing the blog and making me more aware of the area.

    Also you are an insperation to breast cancer awareness with doing this blog as it is seen by so many people in the world from all walks of life 🙂

    Your a star Laura, keep up the great work and take care

    Kind regards

    Liz

  3. Hi Laura, love reading your posts. I’ve had the double mastectomy and bi-lateral reconstruction… so if you have any questions when you come to make your decision, feel free to ask.
    I dont regret it for a second 🙂

  4. It’s going to be a while before you get your results. I wish that it was faster, so people wouldn’t have to wonder. I hope when they come back you hear that you have no chance of getting cancer. That would be great.

    Even if you have the gene it doesn’t mean that you will ever develop cancer. As you know, those things depend on environmental factors as well. Not to mention the impact of your lifestyle also. Many people have the gene for a particular disease and live well into old age without ever developing that disease.

    Enjoy your cooking, eat healthy.
    Stay focused and stay positive.

    • Thank you, Gloria! Unfortunately I have already had cancer (at 29) and am just trying to work out whether I need a mastectomy! I’m halfway through chemotherapy at the moment and doing well. Fingers crossed for the result of the gene test! Best wishes, Laura

  5. Hi Laura,

    Stumbled across your blog whilst doing some research. I found out 5 months ago that I am a carrier of the brca2 gene. I found out when I was 25. Many people wondered whether I should of found out especially as I would get my results 2 weeks before getting married and 3.5 weeks before relocating to another country.

    I don’t regret my choice, it’s made me put a lot of things into perspective and I have a choice! We have a strong breast cancer and thyroid cancer link in our family. I basically grew up with it, and I have always felt that I will eventually get it. You are amazingly brave to be going through it at such a young age. I hope that you don’t have the gene as I am sure that will be a big relief… Least I have not gone through it before, and although I have seen every female member in my family go through it, experiencing it first hand like yourself is another thing!

    Your blog is so inspirational and it’s nice to not feel so ‘alone’ 🙂 wishing you all the luck for a negative result 🙂 I would say the wait is the hardest. It’s like throwing a coin up in the air and waiting to see if it will fall on either heads or tails!

    • Hi Cathryn, I just realised my comment from the other day may not have gone to you so just reposting just in case! (No need to reply!)

      Hi Cathryn, thanks for getting in touch, it’s good to hear from another person in a similar position, although I’m sorry to hear about your discovery. I do think you’re in a much better position having found out though – you would be a carrier regardless of whether you found out or not, so at least now you can do your best to prevent getting breast cancer rather than just wait for it one day to happen, and fingers crossed you won’t ever have to get it. Are you planning on taking any drastic measures or are you going to wait? I guess it depends on the pattern of breast cancer in your family and whether anyone had it when they were young. You are so young that I’m sure you have plenty of time to make a decision.
      I’ve just seen that you have a blog and am about to go on a train journey so will give it a read! Would love to hear back from you and keep in touch as to how you’re getting on, and hopefully you’ll be reading this in a couple of months when I get my results!
      Take care and stay positive! Laura

  6. Hi Cathryn, thanks for getting in touch, it’s good to hear from another person in a similar position, although I’m sorry to hear about your discovery. I do think you’re in a much better position having found out though – you would be a carrier regardless of whether you found out or not, so at least now you can do your best to prevent getting breast cancer rather than just wait for it one day to happen, and fingers crossed you won’t ever have to get it. Are you planning on taking any drastic measures or are you going to wait? I guess it depends on the pattern of breast cancer in your family and whether anyone had it when they were young. You are so young that I’m sure you have plenty of time to make a decision.
    I’ve just seen that you have a blog and am about to go on a train journey so will give it a read! Would love to hear back from you and keep in touch as to how you’re getting on, and hopefully you’ll be reading this in a couple of months when I get my results!
    Take care and stay positive! Laura

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