A few weeks ago, spurred on by all the discussion surrounding testing, the SCOTUS decision, and yes – sigh – Angelina Jolie, I revisited the idea of genetic testing with my oncologist. It seems that in my initial meeting with him early in 2011, i neglected to tell him not only did my mother die of breast cancer, so did one of her five sisters. (I told him about my mother, not my aunt). This sparked some concern on his part and he suggested I see a geneticist.

So, last week, I found myself sitting in a geneticist’s office, within a very swank gynecologist’s office with modern furniture and a coffee bar, and lots of pregnant patients. It was surreal, to me, long past the age where children are a possibility. But also the swankness, funky new furniture in bright colors, a shiny coffee machine next to a multi colored play area for patients’ children.

My father was an Ashkenazi Jew – of eastern European descent. Right away that puts me in the high risk pool for BRCA genes. Although my cancer profile, and the fact that my mother had breast cancer weakens this likelihood (we don’t know if breast cancer runs in my father’s side). No, what interested the geneticist more was the fact that my sister had thyroid cancer, I had breast (in addition to our mother), and the size of my head. Apparently my head circumference is in the 90th percentile compared to Swiss women. Of course I am not Swiss, and I do not know how I compare to North Americans of eastern and southern European descent. Apparently, there is another mutation, PTEN, increasing my likelihood of breast, thyroid, uterine cancers, and carriers often have big head circumferences. So, if I am a carrier, this is the more likely scenario, according to the geneticist.

Notice that I have not yet been tested. Before i choose to be tested, I want to be absolutely sure I will act on the information, and for this, I want to speak to both my gynecologist (who did my surgery) and my oncologist. If i carry the gene, i will have to consider my actions.

Testing in Switzerland is not an issue – my Ashkenazi Jewish heritage puts me in the high risk group, as well as my family history. And unlike the US, there is no quibbling from insurance about payment. And if i carry the gene, I will likely have my uterus removed to reduce the risk of uterine cancer – this can be difficult to detect early.

Even if i carry the PTEN form of the gene, I may not have a prophylactic mastectomy. This is where i have to balance risk. And this is where i need to talk to my other physicians. PTEN does not carry as high a risk as BRCA – i think this is penetrance – you may have the mutation, but it doesn’t always express itself. I see my oncologist and gynecologist every three months. If i add to that an endocrinologist for thyroid issues, will increased surveillance be enough? The geneticist seems to think so. I’d like to see if this is a real possibility, so I am doing more research. I’m inclined to have the test, however.

I’ve already had breast cancer. Is my risk of another breast cancer high enough to warrant prophylactic mastectomy? Whether or not I have a prophylactic mastectomy will not impact my existing risk of metastasis – that cat is out of the bag. I don’t know, but i hope to find out enough soon to make an informed choice. Watch this space.

And I have other questions too. Could i be unlucky enough to have BRCA on one chromosome and PTEN on the other? That could suck.