BRCA Fraca

Well, not really a fraca, but after eleven weeks I received my BRCA genetics test result today after I supplied a blood sample and undertook genetic counselling before and after the test.  As a breast cancer patient under 40 years of age, with a family history of breast and prostate cancers and having an aggressive cancer type,  I was tested free of charge in the Australian public health system.  Tests cost around $3000 if outside the testing criteria and can take a long time to get results for. This genetics testing process started way back here.  

These genetics people are a bit under the pump since Angelina Jolie educated the world about these BRCA genes and the impact of them on her life in the New York Times. Then there is the concerning business of genetic patenting that is going on in the Supreme Court in the US at the moment. Should a company own and control these genes?  Aren’t they our genes?  How concerning for us all!  A BRCA Fracas indeed!

The Giant was not able to be present to deliver the news but I had the lovely company of ‘The Red Lips’ and was introduced to the new ‘Dr Gene’.  Together, they kindly posed for a shoe picture would you believe!

The Geneticists with their sensible shoes delivering my BRCA gene result

The Geneticists delivering my BRCA gene result. Check out that carpet!

Comments about their fine leather footwear aside, that is some of the best hospital carpet I have seen to date on this journey.  It’s like a zillion genes floating around as a myriad of unknown and unidentified mutant clusters, each gene with 400 of its own surface switches that can flick on or off depending on their environmental influences, the game playing of the activator genes, and the mutant combinations that exist when up to 20 of them get together and do good or evil things inside the bodies and minds of living creatures.  This genetics business is very complex indeed. But the carpet, the carpet was amazing!

So here I am at a meeting on my own to discuss the role of two genes. BRCA 1 and 2.  That stands for  breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively. Such creative names!  When really some of you are thinking, what does it matter to her, she can’t prevent breast cancer now!  And why oh why is she looking at the carpet? Focus Lisey focus!

So after a lovely Wednesday morning meeting with the geneticists, It would appear that I don’t have the BRCA 1 or 2 genes at play with my breast cancer.  Only 5 to 10 percent of breast cancers are thought to be BRCA related anyway.  So what does this mean going forward?

It confirms that my treatment plan is appropriate for me.  It means that my risk of ovarian cancer is reduced from 50-60% (if I was BRCA positive) down to that of the general female population of less than 1 percent. That is not to say I would never get ovarian cancer, but my risk is normal in the population. I can stop thinking about future oncological conversations about removing my ovaries now.

It also means that the chemo regime I am on is appropriate for me.  If I was BRCA positive I may have had to endure a slightly longer chemo. (This is contentious in oncological circles, but can make a slight difference to treatment.)

It does not alter my decision to have a second mastectomy in the coming months as that decision had been made already irrespective of BRCA status, based on my unique cancer pathology which puts me in the high risk of recurrence category.  I do not want to spend the rest of my days squeezing my breast in the shower and fretting about lumps. Nor do I want to have regular George Foreman torture mammogram experiences and ultrasound screenings and wait for ‘scanxiety’  to kick in while I wait for the results.  In all likelihood, I am at a greater risk of the cancer metastasising in my body, rather than an entirely new primary (contralateral) cancer starting but I’m not let that happen.  A mastectomy reduces my risk of a new breast cancer starting to the below that of the general population.

It also means other family members in my line now and into the future, can worry less about BRCA gene mutations being at play unless future breast or ovarian cancers crop up and then they may want to look at their own unique family history and be tested.

This negative result doesn’t give my family any information about links between breast and prostate cancers of which there is quite a few cases in one line of my family as well as many other types of cancer.  If  anyone  in my family develops cancer going forward our family cancer genetic history is being genetically tracked and if they wish to participate, researchers can benefit by adding our genes to a gene bank and perhaps make future discoveries.

Of course, genetics is an incredibly complex field and there is much they dont know.

So on that note, it’s safe to say that although I don’t share a positive BRCA gene result with Angelina Jolie, I do have other things in common with her.  We will both have had double mastectomies and reconstructive surgeries in 2013 (I will have been lucky to get me some chemo and radio as well and lost a few dozen lymph nodes), and most importantly, we both happen to have hot partners.  Virtually twins we are!

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Pink Hope is Australia’s first community designed to inspire women to be proactive and vigilant with their breast and ovarian health, while providing a safe haven for high risk women to connect.  Go to http://pinkhope.org.au for info.


5 Comments on “BRCA Fraca”

  1. What a relief about the BRCA results. Your ovaries can stay!

    Like

  2. Nina V says:

    Yay! Good news that is!

    Like


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