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BRCA2 genetic testing

3 replies

BadBadBeans · 29/01/2019 11:39

Twenty years ago, my lovely mum was diagnosed with breast cancer at the age of 41. Sadly, it was already at stage 3. She died when she was 45.

Because she was relatively young at diagnosis, I have always wondered whether there was something in her genetic make-up that had pre-disposed her to developing breast cancer - something I might have inherited too. I've worried about it for years, but haven't been able to do anything about it because she's not here to be tested.

But now the genetics clinic has been able to track down my mum's tissue from her original surgery, and test it. And it turns out she did in fact have a BRCA2 misprint. I have opted to have this test done too. I am currently waiting for results. Veering between being extremely grateful to have the opportunity to actually KNOW if I have this fault, and, frankly, crapping myself.

I'm also in my third trimester of pregnancy which slightly complicates things if I do turn out to have the fault, as it means nothing can be done straight away! However, I figure it will give me lots of time to research and think about next steps. I would be very keen to have prophylactic surgery (double mastectomy initially, followed by ovarectomy at some point in the next few years).

I was just wondering if anyone else has been through this, and has any advice or tips?

OP posts:
LivLemler · 29/01/2019 11:53

Just bumping for you... Not BRCA in our family but HNPCC/Lynch. I've elected not to get tested yet. That may change in time.

Best of luck for your results. Remember, if you do have the gene, you don't need to rush any decisions. You may choose just to opt for monitoring.

CakeIsMyFavouriteAndBest · 29/01/2019 12:19

Myself and my sisters have had BRAC2 testing as my mother died of breast cancer, we didn't have anything to test for until last year my uncle's cousins were identified to have the gene.
2 of us have had our results and we are negative, my other sister is currently waiting for hers.
I was prepared to do whatever was necessary if it was positive as I would rather be in a position of knowing & being prepared.
Even though the test was negative there is still a high chance that the cancer spread through the maternal side (not the side with cousins) so we are still having annual mammograms early and if any of us develop cancer they will test again.

BadBadBeans · 29/01/2019 20:50

Thanks guys.

@CakeIsMyFavouriteAndBest I was in a similar boat - they had nothing to test until last year, when a technological advance made it possible to test stored tissue. I am also fully prepared to do whatever is necessary if I have the fault. It is a bit daunting, however!

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