Medical Genetics

Today, I met with Karen from the medical genetics team.  I last met her 8 years ago, when I was tested for genetic involvement in my cancer and the results came up with nothing, so I didn't have any expectation that things would be different today, but was informed that testing has got better, and there are genes other than BRCA1 and BRCA2 (usually pronounced 'bracka') that they can look for, so it is worth giving a fresh blood sample and having another look.

I mentioned before that my oncologist can't quite believe that I've had cancer twice at an early age without any genes being involved.   I was told last time that there really aren't enough females in my family to give much evidence, but my grandmother had breast cancer at the same age as me, so me and my mum think it is likely there is something

I realised as I talked to Karen today that the previous testing could have missed something.   She said the chances of BRCA1 being present is >50%, but it hasn't yet been detected. Maybe the improved testing might show it up? 

There are other genes too, but they usually come with a history of other cancers in the family, and apart from our breast cancer, we haven't had any to speak of, however Karen noted that they do get results where people have the gene but no other family history or clues, so it can happen.

So I will give more blood for these tests when I next go in for clinic, so they only have to take bloods one more time, and the results will come through a couple of months after that.

And what does it mean if I do have a gene causing this?  Well, there is a 50:50 chance of passing it down, so my brother may be a carrier, and his children could have it.  My cousins could too, on my mother's side.  I'm the only female cousin on that side, and my male cousins - as yet - only have one child.   If my nieces did have the gene, they wouldn't be monitored until they reach at least 30 years of age. They're 15 and (nearly) 18 now, so science will have changed a lot by then. It has changed a fair bit in the 8 years since my first diagnosis!  So I'm not panicking.

Personally, no-one wants the gene, but in some ways it feels as though it would explain things.  The recent articles about obesity being a key cause of cancer does make me wonder.   I've never gone over 12 stone, but at 5ft 7, that is still a touch too heavy, and I do drink and eat naughty things.  But I've never been too heavy, I don't feel.   Was it caused by being on the contraceptive pill pretty much constantly from the age of 14 to 36? (a young age due to extreme period pains, not anything else, I promise!).  Have I got more hormones and HER2 swimming around than other people? 

If anyone wants to learn more about the preventable causes of cancer, here is an excellent article from research that a good friend (Lucy Ellis-Brookes) has been involved with: https://www.nature.com/articles/s41416-018-0029-6.  This was the basis of all those recent news items.   But don't just read the headlines, look at the original research. Librarian rant over. :-)

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