Sunday, 8 April 2012

BRCA2 Positive

I'm BRCA2 positive.  That means that I have a cancer gene.  It has a 50/50 chance of being inherited, but since I have it, it gave me a 50-85% chance of breastcancer (10% in regular population).  Not good odds obviously.  It also gives me a higher ovarian cancer rate of 20-40% compared to 1.5% in normal population- more on that later.

It most likely has come through my Mum's side as I have a cousin who died of breastcancer in her early thirties, and my mum's cousin had 'early' breastcancer too.  But that's it as far as we know.  Noone with ovarian cancer and noone at all on Dad's side that we know of.  For my siblings it means a 50/50 chance of having it.  Our family is now known as a 'high risk' family.  For my brother it could increase his breastcancer rate to 10%, and they recommend prostate checks at 40 instead of 50, but the implications for him are mostly about his daughters.  Everyone in my family will be entitled to yearly screening and if anyone tests positive for the gene they will be offered prophylactic mastectomy and oophorectomy (ovaries out).  The offer of genetic testing also extends to my aunties, uncles and female cousins.  If any of them test positive their brothers and children can be tested and it just keeps on going out and out. 

As yet my Mum and her sister have both decided not to test, and I am unsure about my sisters and brother.  I am really struggling with this.  I feel like I have inside knowledge in terms of facing your life and by not knowing they are sticking their heads in the sand.  It is one thing to have regular screening and be aware of lumps etc but it is the ovarian cancer that scares me.

Ovarian cancer is virtually unscreenable.  There is a blood test and transvaginal ultrasound but they are both regarded as reasonably ineffective.  You often won't know you have it until it is killing you.  With a BRCA2 mutation the odds of survuvability slightly improve from about 36% to 52%.  Not great, and pretty much equal to your chance of  not haivng breastcancer.  This is what I struggle with in terms of my family declining/ignoring genetic screening. 

I do not want a single one of them to go through that.


  1. I also struggle with my siblings not wanting the test. My mom is BRCA2 positive. I have been tested and do not have it but worry about my siblings having this mutation and not getting proper testing done.

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