Monday 22 October 2012

BRCA

I've been putting off writing this for so long, but it's on my mind so here goes...
Breast cancer has many associated genes, It's unknown exactly how many or the exact mechanism of action of all of these genes but it is known that having one of these genes increases your risk of developing breast or ovarian cancer considerably. The most common forms are known as BRCA 1 & 2.
BRCA is a tumour suppressor gene, which can become ineffective if mutated.

When testing for mutations on the BRCA gene, ordinarily the affected person is tested first, to which afterwards 1st and 2nd degree relatives are tested. The likelihood that an offspring would have inherited the gene is 50% due to an autosomal dominant inheritance pattern. It is located on chromosome 17, not a sex chromosome therefore the risk can be passed onto offspring of both genders.

A few weeks ago, I found out that my grandmother, who had breast cancer back in the 1980's. Recently it's been found it that she has a mutation on the BRCA 1 gene meaning that I have a 25% chance of having the gene myself.

So tomorrow, I'm scheduled in to have my first ever blood test and I'm scared. I'm scared of the needles, I'm scared its going to hurt. Most of all I'm scared of the result. I know there are things that can be done to reduce my chances with regular mammograms, not taking the contraceptive pill etc. but it's still frightening to have the prospect of potentially possessing some kind of genetic disorder.

There's also the options I have if I found out that I do have the gene. This includes a preventative mastectomy and/or oophorectomy, but then I want to have children. But if I do have this gene would it be worth risking passing it on to any potential offspring? I know that I also have the option of IVF with genetic screening, but it's costly with the potential ethical issue of is it right to choose an embryo on the basis of its genes? To test for a defect certainly, but where do we draw the line? What if my potential future offspring have to deal with seeing their mother go through such a traumatic experience?

There's also the issue of dysmenorrhea, to the point in which I suffer from emesis, among other symptoms. If I have a mutation in the BRCA gene then I need to stop taking the contraceptive pill which is the only thing that I've found to control the symptoms.

What if I don't have it.

I'd want to know in that circumstance, but I'm just so terrified of the result.
What if my mother has it? I don't know if I could deal with another immediate family member being so ill again, I don't think I can both emotionally and physically go through that again.

Wish me luck! I'm gladly welcoming prayers right now!

XOX

1 comment:

  1. Update: So as I thought initially, only a genetic team can refer me for the test, something overlooked by the locum doctor I saw initially but thankfully picked up by the phlebotomist. Now needing to book another appointment with my general practitioner and looking for a referral. Wish me luck!

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