A kind of gut feeling

I'm sneaking in another "about me" kind of post. I wanted to record something about a kind of gut feeling I have had.

A quick reminder about my family history of cancer:
My mother was diagnosed with inflammatory breast cancer when she was 47. Her mother was diagnosed with breast cancer at 59. Her mother died from ovarian cancer at 58. Those are the only three women across those 3 generations in my family, and I am the only person in my generation (I'm currently 33).

I didn't find out that my great grandmother had ovarian cancer until probably a couple of years after my mom was diagnosed. I think that was the point at which she made the link too (thinking about it, maybe her doctors made the link for her). So I went from having a grandmother who had had breast cancer at 59 - not too worrying - to the history described above. At that time my mom was offered genetic testing. She told me that she didn't need it herself, but that it was of more relevance/use to me. I said I would think about it. I promptly forgot about it. This was due to a complete lack of understanding.

The first thing I didn't realise was that cancer caused by a genetic fault doesn't just mean you are more likely to get that cancer. It also means that you are more likely to get it when you are younger, it is likely to be more aggressive, you are likely if you survive the first cancer to get it again (and again), and in some cases treatments are less effective.

The second thing that I didn't realise was that there were things that could be done to prevent it.

I just thought "Well, breast cancer will be what gets me, and what good is screening going to do?"

Then, 6 years after diagnosis, my mom died. It made me stop and reflect. Not so much on death, but on the 6 years that preceeded death. From the moment of diagnosis, cancer was her life. Relentless. Shapeshifting. Cruel. Surgery. Radiation. Chemotherapy. Drains. Ports. Hair loss. Lymphedema.  Exhaustion. Bone metastases. Pain. Lung metastasis. Weekly hospital appointments. Plural effusion. Surgery. Drains. Chemotherapy. Hair loss. Plural effusion. Surgery. Plural effusion. Surgery. Intensive care. Chemotherapy. Deep vein thrombosis. Daily injections. Seizures. Carcinomatous meningitis. Death.

No longer am I afraid of death. I am terrified of cancer. The strength with which my mom handled the above is another story. I don't think I am that strong. So I went to my GP and told her my family history. I was referred to the Family History Service, and then to the Genetics Clinic. It took a year to get the appointment at the Genetics Clinic and I spent that year reading about BRCA1 and BRCA2.

And it didn't quite make sense.

It's a tiny family, but with just 3 women you can see that there is:
  • The fact that all three got breast or ovarian cancer
  • The fact that there is ovarian as well as breast cancer
  • The fact that none of them were particularly old, and my mom, the closest to me was only 47.
This pattern is what made the Genetics Clinic concerned about a BRCA1 or BRCA2 mutation.

But here's what has been bothering me:
My mom's cancer was ER+, PR-, Her2+.
80% of BRCA1 breast cancers are triple negative.
80% of BRCA2 breast cancers are ER+, PR+ and Her2-.
(I got those stats from here but the same kinds of figures are all over the place).
I don't know the details of my grandmother's breast cancer but I know she took Tamoxifen which I think indicates hers was ER+ too.

The more I read the more it seemed that while the pattern of cancer in my family screams "hereditary", the profile of those cancers is shouting "But not BRCA1 or BRCA2!"

So honestly, I wasn't the slightest bit surprised to get a negative test result. And I don't feel any relief from the negative test result because my gut feeling was that the issue lies outside of those 2 genes in the first place anyway. Possibly in a multitude of factors that all add up to increase risk.

I need to go for an appointment at the Genetics Clinic to discuss all this - so far I have just had my letter and not had the opportunity to ask questions. But I have been told by the Genetics Clinic that while my negative result might mean there was a BRCA1 or BRCA2 fault which I didn't inherit, it does not exclude the possibilities that either another gene altogether is involved or that something is affecting the BRCA1 or BRCA2 genes from a distance.

My gut feeling is the same as it was before I had the test - I think there is something else going on in my family history and that is why I am on a mission to learn, and also to do everything in my power to be as healthy as possible (hence my interest in diet and "anti cancer" foods).

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