To all my friends who have started reading my blog because you're secretly looking forward to the gruesome details about things like which hair on the body is the first to fall out or whether I end up being one of the unlucky ones who gets both oral and vaginal thrush as a result of chemo.... this post is not for you. (And yes, I know full well who you are you sickos!)
To anyone reading this because they are interested in the genetics of hereditary breast and ovarian cancer.... sorry about that first bit. It'll be all serious genetic business in this post from now on, I promise.
Earlier this year I had a genetic test looking at my BRCA1 and BRCA2 genes. No mutation, deletion, or duplication in either gene. As mentioned previously the Genetics Clinic hoped this was because there was a BRCA fault in my family and I did not inherit it, rather than the family history being caused by a fault in another gene (or genes) which I might have inherited but which I couldn't currently be tested for. You can read this post for some explanation as to why I never really thought it was a dodgy BRCA1 or BRCA2 messing with my family.
Anyway, I was interested in which other genes might have been killing off the women in my family one by one for generations but I was finding it quite hard to get much useful information about genes related to HBOC other than BRCA1 or BRCA2. My experience has been that once you wade through the masses of information online insisting on repeat that most breast and ovarian cancers are not hereditary, and then through all the information about BRCA1, BRCA2 and Angelina Jolie's risk reducing mastectomy and reconstruction (which some people don't seem to realise is very different to a "boob job" by the way), you're not left with much to read (that makes sense anyway).
However, there was one gene that was cropping up in conversations in some online forums I am part of (for women around the world whose families have been stalked for generations by breast and ovarian cancer - yes, more superwomen!) It was called PALB2. Some women in the USA had had genetics tests that also looked at this gene and lo and behold - they had no BRCA1 or BRCA2 mutation, but they did have a PALB2 mutation, and a miserable family history of breast cancer. The little bit of information that I did find about PALB2 grabbed my attention.
PALB2 stands for Partner and Localiser of BRCA2. In language that might make sense to someone with the same level of scientific knowledge as me (ie, little to none) - this is a gene that works together with the BRCA2 gene - so if there is a problem with your PALB2 then that might stop the BRCA2 gene doing its own job properly (and the job of BRCA2 is "tumour suppressor" - ie somehow (it's complicated... I dunno) stop cancerous tumours from developing).
Anyways, I found it interesting because my family history was sort of like a BRCA2 mutant history, but not quite. So the possibility that a gene that affects my BRCA2 being able to do its job might be messed up in my family was intriguing.
Then I got diagnosed with cancer and stopped any research about HBOC because, well, other more pressing matters on my mind.
UNTIL! Last week PALB2 made the news! Yes, yes, it turns out that mutations in PALB2 raise the risk of breast cancer in women by almost as much as mutations in BRCA1 and BRCA2. Not only that but it seems to cause some increase in risk of ovarian cancer too. So now, rather than being one in a long list of genes that might or might not increase a person's risk of breast cancer by a fraction, PALB2 is now being taken seriously as an important gene that's dangerous if it's defective in any way. It probably won't be long before it's tested as routine along with BRCA1 and BRCA2 on the NHS for those of us at high risk of HBOC.
I was debating whether to include some links to further info here but I expect they will quickly become out of date. If you're interested, just google PALB2.
And I await my latest genetic test results eagerly. PALB2 is one of 97 of my genes being scrutinised by clever lab rats at the moment. I'll let you know when I know!
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