Wednesday, February 12, 2014


Lets take a few minutes to learn a little more about the BRCA1.

Now more commonly referred to as the Angelina Jolie gene, the BRCA1 gene is sadly now a part of my life. The Breast Cancer network Australia comments that 90 to 95% of breast cancers have absolutely nothing to do with family history. Purely by cruel fate, breast cancer in majority of case is just by chance. This does imply that it is coincidence that several people in one family have developed cancer... However maybe there is a further gene that just has not been recognised yet???

The second occurrence can be related to environmental factors. There are correlations between families living in similar environments with similar diets and lifestyles, that have been linked with breast cancer.

The final occurence is the 5 to 10% of breast cancers that occur from a gene fault, or gene mutation, and are passed down through family lines. Both BRCA1 and BRCA2 gene mutations are known to be associated with an increased risk of developing both breast and ovarian cancer, with BRCA1 being marginally more aggressive and higher occurrence at younger ages. Men can also be a carrier of this gene.

As mentioned previously in this blog, having this gene does not mean that I have cancer. It is only linked with an increased risk.

In Australia the process of testing is fairly straight forward. You do have to be over the age of 18. Generally your process will start (and continue) with the help of a genetic councillor. You will be given all of the information you need to make in an informed choice about whether to go ahead with testing or not. It's sadly not just a matter of "Ok I have the gene now I can ignore it". The knowledge you have this gene will constantly plague you so you have to be ready to accept that if the test comes back positive how you are going to handle it. There is also the matter of life insurance... Important to consider BEFORE having your test.

The actually diagnosis is simple. Blood is sent off and a couple of days later you will receive a phone call to come back in and discuss the results with your councillor. I can only hope that it is negative for you.

The good news (if any) of having a positive test will enable your family to also have the test. For me, my sister and mother having a positive test prior to mine actually enabled my testing to be medicare covered. I am unsure of the costs involved if you do not have an associated positive gene already?

So.... the test has just come back positive. You will be sent off to two specialists. One to deal with the ovaries, the other the boobs. I am so incredibly blessed to have the two most amazing surgeons! I have a history already gyn wise and before I had a chance to ring and make an appointment my gynacologist was calling ME to see if I was ok after he heard the news. My breast surgeon as well is the most incredible women who has taken my views and opinions into consideration as well as gently encouraging what she thought was the right path. As this is such a personal choice and only one in which you can make on your own, they provided me with the information I needed and only on my cues have proceeded with further plans for surgery.

Off I went after initial consultations with my surgeons for blood tests, MRI's and ultrasounds (both breast and gynie) every 6 months for monitoring.

There is now a lot of information available on the net if you are after any more information. The amazing FORCE group is here in australia with facebook pages and yearly conferences. There are also the Breast Cancer Foundation and the Breast Cancer Network Australia groups who have plenty of information also. Talk to your GP and of course keep up to date with your mammos/ultrasounds.

 If you are seriously considering having this test I wish you all the best of luck.

12 Days to go!

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