BRCA genetic testing result

Well we have arrived, it is the end of another week. And this week was particularly interesting not only for having done some volunteering, seeing my (i.e. Facing Cancer Together’s) PSA advertisement hit the electronic news stands – see page 31 for me and my very white teeth, or trying to arrange a photo shoot (an attempt to describe my current state of hair may not have been so clear, as they kept asking me to bring along my wig), but also because this is the week of my BRCA results.

Genetic testing has been done. And I’ll get straight to the results, then talk about their meaning. Basically – for the two BRCA genes where they have identified a known mutation linked to high probabilities of cancer – I am A-Okay! No mutation. Everything works tick-a-dee-boo.


(Insert here the happy dance that Mom, Dad, Zsolt and I did this afternoon after sharing the news. Dad cranked up Depeche Mode’s Question of Time and made us all dance around the kitchen in celebration. And you are welcome do dance as well, if you’d like.)

So while the mystery of ‘why did you get cancer’ remains unsolved, I’ve nevertheless been spared this additional weight in my journey. What that means is I am lucky, very lucky, to not have to consider removing my ovaries and uterus due to high risk . . . and my left breast is also giving a sigh of relief.

None of this means I cannot be vigilant – checks, scans, tests must all be done regularly. After all, I did have cancer, and yeah, that doctor in the UK quoted me at fifty percent of a pizza . . .so yes, I need to remain on guard.

But I guess my chances of developing a second cancer are not drastically high. The genetic consultant did this lovely test for me where she calculated the likelihood of my developing a second cancer . . . she arrived at a life-time risk of 16%. But that is when I’m eighty. Right now, here in my thirties, it’s like from less than zero to one percent.  

They did, however, find a bizzaro mutation on my BRCA1 gene that cannot be identified. Generally speaking, they feel it’s not pathogenic (i.e. not cancer causing) but they cannot be positive. This means that every three or five years, I’m meant to call into the clinic and check to see whether that particularly (currently mystery) mutation  has been linked to cancer. Hopefully it becomes confirm as ‘not a bad thing’ as the gene is further investigated.

Honestly, I am thankful to not be identified as having hereditary breast cancer. I am thankful for myself, and my body/baby related choices, but also for my mother, my cousins, my family, and – hopefully – my future children. I am very, very thankful.

People who are diagnosed with the messed up BRCA genes live incredible lives beyond cancer (or even without cancer!) – think about Terri from a Fresh Chapter, for instance. But nevertheless that’s a heavy slice of knowledge about a body that could potentially turn on you. (Of course this is the case for everyone, not to be too ‘doom and gloom’, but imagine having a doctor say, “there’s a 80% chance you’ll get cancer if you don’t remove those breasts.) I cannot speak for their journeys, but I do know they are journeying despite a certain monkey on the back, and that in itself is hugely admirable.

Anyhow, today was a relief and I am thankful, very thankful. It’s such good news . . . I don’t want to boast, but it’s such very, very good news.

And for today, that is all I’ll write about that.

11 thoughts on “BRCA genetic testing result

  1. You look great on page 31; I really like your short hair, those cool glasses and the beautiful setting where that picture was taken.

    That is wonderful news about your BRCA test results. I’m dancing. 🙂

  2. Am trying to download the link to page 31 – it’s taking a long time to load – hope I will be able to see you in all your gorgeous glory 🙂 While, I’m gives me time to say how wonderful it is to read your good news – so pleased for you – may this be the start of lots of happy news for you in the coming year x

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