Winning the genetic lottery!

The drug trial I’m on involves some genetic testing for comparison between different patients. Some women respond well to the treatment while others don’t, and the researchers are trying to find out how to predict who is best to take the drug, based on genetics. My results came back showing I have the BRCA1 mutation, which actually is a good thing for success with this treatment, but of course it’s very worrying if the fault runs in the family. It is a defect in the tumour suppression gene, and it is the very same mutation Angelina Jolie inherited from her mother, which prompted the actress to go for major surgery!

img_2352After waiting all year for the results of further testing I have just heard that in my case the problem is NOT hereditary! Somehow I have developed this mutation by myself. It wasn’t handed down from my parents and it’s unlikely to be a problem for my kids. Phew!

I am overjoyed with this amazing news and it’s a pleasure to share it with my extended family! Previously they could all have had reason to worry that they or their children were in line to inherit the same nasty mutation, just for being related to me. Now we know they all have no greater cancer risk than the general population (in relation to breast, ovarian or prostrate cancer).

Note: My risk of developing ovarian cancer was only the general population risk too, but I was very unlucky! So here’s a reminder for everyone to go for regular screening (breast or prostate) and be aware of the signs of ovarian cancer, because early detection makes a huge difference.

http://www.cancer.org/cancer/ovariancancer/detailedguide/ovarian-cancer-signs-and-symptoms

(When they say “bloating”, it can include putting on inches around the middle.)

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8 thoughts on “Winning the genetic lottery!”

  1. Excellent news. No hurry for the results! Must be great relief and glad to see you are doing very well. x

  2. Great news that your mutated genes are unlikely to have been pass on to the family, also that the current medication is what you need at this time and that it will still work on a low dose. Seems as though you re enjoying life – may that long continue. Love Danni

  3. Great news that your mutated genes are unlikely to have been pass on to the family, also that the current medication is what you need at this time and that it will still work on a low dose. Seems as though you re enjoying life – may that long continue. Love Danni

  4. Excellent news. No hurry for the results! Must be great relief and glad to see you are doing very well. x

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